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  • 1. Adrianto, Indra
    et al.
    Wen, Feng
    Templeton, Amanda
    Wiley, Graham
    King, Jarrod B.
    Lessard, Christopher J.
    Bates, Jared S.
    Hu, Yanqing
    Kelly, Jennifer A.
    Kaufman, Kenneth M.
    Guthridge, Joel M.
    Alarcon-Riquelme, Marta E.
    Anaya, Juan-Manuel
    Bae, Sang-Cheol
    Bang, So-Young
    Boackle, Susan A.
    Brown, Elizabeth E.
    Petri, Michelle A.
    Gallant, Caroline
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics.
    Ramsey-Goldman, Rosalind
    Reveille, John D.
    Vila, Luis M.
    Criswell, Lindsey A.
    Edberg, Jeffrey C.
    Freedman, Barry I.
    Gregersen, Peter K.
    Gilkeson, Gary S.
    Jacob, Chaim O.
    James, Judith A.
    Kamen, Diane L.
    Kimberly, Robert P.
    Martin, Javier
    Merrill, Joan T.
    Niewold, Timothy B.
    Park, So-Yeon
    Pons-Estel, Bernardo A.
    Scofield, R. Hal
    Stevens, Anne M.
    Tsao, Betty P.
    Vyse, Timothy J.
    Langefeld, Carl D.
    Harley, John B.
    Moser, Kathy L.
    Webb, Carol F.
    Humphrey, Mary Beth
    Montgomery, Courtney Gray
    Gaffney, Patrick M.
    Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus2011In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 43, no 3, p. 253-258Article in journal (Refereed)
    Abstract [en]

    Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT>A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE in subjects of European (P = 1.58 x 10(-8), odds ratio = 1.70) and Korean (P = 8.33 x 10(-10), odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-kappa B subunits with reduced avidity. Further, compared with the non-risk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.

  • 2. Ahmed, Shahana
    et al.
    Thomas, Gilles
    Ghoussaini, Maya
    Healey, Catherine S.
    Humphreys, Manjeet K.
    Platte, Radka
    Morrison, Jonathan
    Maranian, Melanie
    Pooley, Karen A.
    Luben, Robert
    Eccles, Diana
    Evans, D. Gareth
    Fletcher, Olivia
    Johnson, Nichola
    dos Santos Silva, Isabel
    Peto, Julian
    Stratton, Michael R.
    Rahman, Nazneen
    Jacobs, Kevin
    Prentice, Ross
    Anderson, Garnet L.
    Rajkovic, Aleksandar
    Curb, J. David
    Ziegler, Regina G.
    Berg, Christine D.
    Buys, Saundra S.
    McCarty, Catherine A.
    Feigelson, Heather Spencer
    Calle, Eugenia E.
    Thun, Michael J.
    Diver, W. Ryan
    Bojesen, Stig
    Nordestgaard, Børge G.
    Flyger, Henrik
    Dörk, Thilo
    Schürmann, Peter
    Hillemanns, Peter
    Karstens, Johann H.
    Bogdanova, Natalia V.
    Antonenkova, Natalia N.
    Zalutsky, Iosif V.
    Bermisheva, Marina
    Fedorova, Sardana
    Khusnutdinova, Elza
    Kang, Daehee
    Yoo, Keun-Young
    Noh, Dong Young
    Ahn, Sei-Hyun
    Devilee, Peter
    van Asperen, Christi J.
    Tollenaar, R. A. E. M.
    Seynaeve, Caroline
    Garcia-Closas, Montserrat
    Lissowska, Jolanta
    Brinton, Louise
    Peplonska, Beata
    Nevanlinna, Heli
    Heikkinen, Tuomas
    Aittomäki, Kristiina
    Blomqvist, Carl
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology, Oncology.
    Hopper, John L.
    Southey, Melissa C.
    Smith, Letitia
    Spurdle, Amanda B.
    Schmidt, Marjanka K.
    Broeks, Annegien
    van Hien, Richard R.
    Cornelissen, Sten
    Milne, Roger L.
    Ribas, Gloria
    González-Neira, Anna
    Benitez, Javier
    Schmutzler, Rita K.
    Burwinkel, Barbara
    Bartram, Claus R.
    Meindl, Alfons
    Brauch, Hiltrud
    Justenhoven, Christina
    Hamann, Ute
    Chang-Claude, Jenny
    Hein, Rebecca
    Wang-Gohrke, Shan
    Lindblom, Annika
    Margolin, Sara
    Mannermaa, Arto
    Kosma, Veli-Matti
    Kataja, Vesa
    Olson, Janet E.
    Wang, Xianshu
    Fredericksen, Zachary
    Giles, Graham G.
    Severi, Gianluca
    Baglietto, Laura
    English, Dallas R.
    Hankinson, Susan E.
    Cox, David G.
    Kraft, Peter
    Vatten, Lars J.
    Hveem, Kristian
    Kumle, Merethe
    Sigurdson, Alice
    Doody, Michele
    Bhatti, Parveen
    Alexander, Bruce H.
    Hooning, Maartje J.
    van den Ouweland, Ans M. W.
    Oldenburg, Rogier A.
    Schutte, Mieke
    Hall, Per
    Czene, Kamila
    Liu, Jianjun
    Li, Yuqing
    Cox, Angela
    Elliott, Graeme
    Brock, Ian
    Reed, Malcolm W. R.
    Shen, Chen-Yang
    Yu, Jyh-Cherng
    Hsu, Giu-Cheng
    Chen, Shou-Tung
    Anton-Culver, Hoda
    Ziogas, Argyrios
    Andrulis, Irene L.
    Knight, Julia A.
    Beesley, Jonathan
    Goode, Ellen L.
    Couch, Fergus
    Chenevix-Trench, Georgia
    Hoover, Robert N.
    Ponder, Bruce A. J.
    Hunter, David J.
    Pharoah, Paul D. P.
    Dunning, Alison M.
    Chanock, Stephen J.
    Easton, Douglas F.
    Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.22009In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 41, no 5, p. 585-590Article in journal (Refereed)
    Abstract [en]

    Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage. To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR = 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR = 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

  • 3. Anderson, Beverley H.
    et al.
    Kasher, Paul R.
    Mayer, Josephine
    Szynkiewicz, Marcin
    Jenkinson, Emma M.
    Bhaskar, Sanjeev S.
    Urquhart, Jill E.
    Daly, Sarah B.
    Dickerson, Jonathan E.
    O'Sullivan, James
    Leibundgut, Elisabeth Oppliger
    Muter, Joanne
    Abdel-Salem, Ghada M. H.
    Babul-Hirji, Riyana
    Baxter, Peter
    Berger, Andrea
    Bonafe, Luisa
    Brunstom-Hernandez, Janice E.
    Buckard, Johannes A.
    Chitayat, David
    Chong, Wui K.
    Cordelli, Duccio M.
    Ferreira, Patrick
    Fluss, Joel
    Forrest, Ewan H.
    Franzoni, Emilio
    Garone, Caterina
    Hammans, Simon R.
    Houge, Gunnar
    Hughes, Imelda
    Jacquemont, Sebastien
    Jeannet, Pierre-Yves
    Jefferson, Rosalind J.
    Kumar, Ram
    Kutschke, Georg
    Lundberg, Staffan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health.
    Lourenco, Charles M.
    Mehta, Ramesh
    Naidu, Sakkubai
    Nischal, Ken K.
    Nunes, Luis
    Ounap, Katrin
    Philippart, Michel
    Prabhakar, Prab
    Risen, Sarah R.
    Schiffmann, Raphael
    Soh, Calvin
    Stephenson, John B. P.
    Stewart, Helen
    Stone, Jon
    Tolmie, John L.
    van der Knaap, Marjo S.
    Vieira, Jose P.
    Vilain, Catheline N.
    Wakeling, Emma L.
    Wermenbol, Vanessa
    Whitney, Andrea
    Lovell, Simon C.
    Meyer, Stefan
    Livingston, John H.
    Baerlocher, Gabriela M.
    Black, Graeme C. M.
    Rice, Gillian I.
    Crow, Yanick J.
    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus2012In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 44, no 3, p. 338-342Article in journal (Refereed)
    Abstract [en]

    Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous gamma H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the alpha-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-alpha primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.

  • 4. Antoniou, Antonis C.
    et al.
    Wang, Xianshu
    Fredericksen, Zachary S.
    McGuffog, Lesley
    Tarrell, Robert
    Sinilnikova, Olga M.
    Healey, Sue
    Morrison, Jonathan
    Kartsonaki, Christiana
    Lesnick, Timothy
    Ghoussaini, Maya
    Barrowdale, Daniel
    Peock, Susan
    Cook, Margaret
    Oliver, Clare
    Frost, Debra
    Eccles, Diana
    Evans, D. Gareth
    Eeles, Ros
    Izatt, Louise
    Chu, Carol
    Douglas, Fiona
    Paterson, Joan
    Stoppa-Lyonnet, Dominique
    Houdayer, Claude
    Mazoyer, Sylvie
    Giraud, Sophie
    Lasset, Christine
    Remenieras, Audrey
    Caron, Olivier
    Hardouin, Agnes
    Berthet, Pascaline
    Hogervorst, Frans B. L.
    Rookus, Matti A.
    Jager, Agnes
    van den Ouweland, Ans
    Hoogerbrugge, Nicoline
    van der Luijt, Rob B.
    Meijers-Heijboer, Hanne
    Garcia, Encarna B. Gomez
    Devilee, Peter
    Vreeswijk, Maaike P. G.
    Lubinski, Jan
    Jakubowska, Anna
    Gronwald, Jacek
    Huzarski, Tomasz
    Byrski, Tomasz
    Gorski, Bohdan
    Cybulski, Cezary
    Spurdle, Amanda B.
    Holland, Helene
    Goldgar, David E.
    John, Esther M.
    Hopper, John L.
    Southey, Melissa
    Buys, Saundra S.
    Daly, Mary B.
    Terry, Mary-Beth
    Schmutzler, Rita K.
    Wappenschmidt, Barbara
    Engel, Christoph
    Meindl, Alfons
    Preisler-Adams, Sabine
    Arnold, Norbert
    Niederacher, Dieter
    Sutter, Christian
    Domchek, Susan M.
    Nathanson, Katherine L.
    Rebbeck, Timothy
    Blum, Joanne L.
    Piedmonte, Marion
    Rodriguez, Gustavo C.
    Wakeley, Katie
    Boggess, John F.
    Basil, Jack
    Blank, Stephanie V.
    Friedman, Eitan
    Kaufman, Bella
    Laitman, Yael
    Milgrom, Roni
    Andrulis, Irene L.
    Glendon, Gord
    Ozcelik, Hilmi
    Kirchhoff, Tomas
    Vijai, Joseph
    Gaudet, Mia M.
    Altshuler, David
    Guiducci, Candace
    Loman, Niklas
    Harbst, Katja
    Rantala, Johanna
    Ehrencrona, Hans
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Gerdes, Anne-Marie
    Thomassen, Mads
    Sunde, Lone
    Peterlongo, Paolo
    Manoukian, Siranoush
    Bonanni, Bernardo
    Viel, Alessandra
    Radice, Paolo
    Caldes, Trinidad
    de la Hoya, Miguel
    Singer, Christian F.
    Fink-Retter, Anneliese
    Greene, Mark H.
    Mai, Phuong L.
    Loud, Jennifer T.
    Guidugli, Lucia
    Lindor, Noralane M.
    Hansen, Thomas V. O.
    Nielsen, Finn C.
    Blanco, Ignacio
    Lazaro, Conxi
    Garber, Judy
    Ramus, Susan J.
    Gayther, Simon A.
    Phelan, Catherine
    Narod, Stephen
    Szabo, Csilla I.
    Benitez, Javier
    Osorio, Ana
    Nevanlinna, Heli
    Heikkinen, Tuomas
    Caligo, Maria A.
    Beattie, Mary S.
    Hamann, Ute
    Godwin, Andrew K.
    Montagna, Marco
    Casella, Cinzia
    Neuhausen, Susan L.
    Karlan, Beth Y.
    Tung, Nadine
    Toland, Amanda E.
    Weitzel, Jeffrey
    Olopade, Olofunmilayo
    Simard, Jacques
    Soucy, Penny
    Rubinstein, Wendy S.
    Arason, Adalgeir
    Rennert, Gad
    Martin, Nicholas G.
    Montgomery, Grant W.
    Chang-Claude, Jenny
    Flesch-Janys, Dieter
    Brauch, Hiltrud
    Severi, Gianluca
    Baglietto, Laura
    Cox, Angela
    Cross, Simon S.
    Miron, Penelope
    Gerty, Sue M.
    Tapper, William
    Yannoukakos, Drakoulis
    Fountzilas, George
    Fasching, Peter A.
    Beckmann, Matthias W.
    Silva, Isabel dos Santos
    Peto, Julian
    Lambrechts, Diether
    Paridaens, Robert
    Ruediger, Thomas
    Foersti, Asta
    Winqvist, Robert
    Pylkaes, Katri
    Diasio, Robert B.
    Lee, Adam M.
    Eckel-Passow, Jeanette
    Vachon, Celine
    Blows, Fiona
    Driver, Kristy
    Dunning, Alison
    Pharoah, Paul P. D.
    Offit, Kenneth
    Pankratz, V. Shane
    Hakonarson, Hakon
    Chenevix-Trench, Georgia
    Easton, Douglas F.
    Couch, Fergus J.
    A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population2010In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 42, no 10, p. 885-892Article in journal (Refereed)
    Abstract [en]

    Germline BRCA1 mutations predispose to breast cancer. To identify genetic modifiers of this risk, we performed a genome-wide association study in 1,193 individuals with BRCA1 mutations who were diagnosed with invasive breast cancer under age 40 and 1,190 BRCA1 carriers without breast cancer diagnosis over age 35. We took forward 96 SNPs for replication in another 5,986 BRCA1 carriers (2,974 individuals with breast cancer and 3,012 unaffected individuals). Five SNPs on 19p13 were associated with breast cancer risk (P-trend = 2.3 x 10(-9) to Ptrend = 3.9 x 10(-7)), two of which showed independent associations (rs8170, hazard ratio (HR) = 1.26, 95% CI 1.17-1.35; rs2363956 HR = 0.84, 95% CI 0.80-0.89). Genotyping these SNPs in 6,800 population-based breast cancer cases and 6,613 controls identified a similar association with estrogen receptor-negative breast cancer (rs2363956 per-allele odds ratio (OR) = 0.83, 95% CI 0.75-0.92, P-trend = 0.0003) and an association with estrogen receptor-positive disease in the opposite direction (OR = 1.07, 95% CI 1.01-1.14, P-trend = 0.016). The five SNPs were also associated with triple-negative breast cancer in a separate study of 2,301 triple-negative cases and 3,949 controls (Ptrend = 1 x 10(-7) to Ptrend = 8 x 10(-5); rs2363956 per-allele OR = 0.80, 95% CI 0.74-0.87, P-trend = 1.1 x 10(-7)).

  • 5. Arking, Dan E
    et al.
    Pulit, Sara L
    Crotti, Lia
    van der Harst, Pim
    Munroe, Patricia B
    Koopmann, Tamara T
    Sotoodehnia, Nona
    Rossin, Elizabeth J
    Morley, Michael
    Wang, Xinchen
    Johnson, Andrew D
    Lundby, Alicia
    Gudbjartsson, Daníel F
    Noseworthy, Peter A
    Eijgelsheim, Mark
    Bradford, Yuki
    Tarasov, Kirill V
    Dörr, Marcus
    Müller-Nurasyid, Martina
    Lahtinen, Annukka M
    Nolte, Ilja M
    Smith, Albert Vernon
    Bis, Joshua C
    Isaacs, Aaron
    Newhouse, Stephen J
    Evans, Daniel S
    Post, Wendy S
    Waggott, Daryl
    Lyytikäinen, Leo-Pekka
    Hicks, Andrew A
    Eisele, Lewin
    Ellinghaus, David
    Hayward, Caroline
    Navarro, Pau
    Ulivi, Sheila
    Tanaka, Toshiko
    Tester, David J
    Chatel, Stéphanie
    Gustafsson, Stefan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Kumari, Meena
    Morris, Richard W
    Naluai, Asa T
    Padmanabhan, Sandosh
    Kluttig, Alexander
    Strohmer, Bernhard
    Panayiotou, Andrie G
    Torres, Maria
    Knoflach, Michael
    Hubacek, Jaroslav A
    Slowikowski, Kamil
    Raychaudhuri, Soumya
    Kumar, Runjun D
    Harris, Tamara B
    Launer, Lenore J
    Shuldiner, Alan R
    Alonso, Alvaro
    Bader, Joel S
    Ehret, Georg
    Huang, Hailiang
    Kao, W H Linda
    Strait, James B
    Macfarlane, Peter W
    Brown, Morris
    Caulfield, Mark J
    Samani, Nilesh J
    Kronenberg, Florian
    Willeit, Johann
    Smith, J Gustav
    Greiser, Karin H
    Meyer Zu Schwabedissen, Henriette
    Werdan, Karl
    Carella, Massimo
    Zelante, Leopoldo
    Heckbert, Susan R
    Psaty, Bruce M
    Rotter, Jerome I
    Kolcic, Ivana
    Polašek, Ozren
    Wright, Alan F
    Griffin, Maura
    Daly, Mark J
    Arnar, David O
    Hólm, Hilma
    Thorsteinsdottir, Unnur
    Denny, Joshua C
    Roden, Dan M
    Zuvich, Rebecca L
    Emilsson, Valur
    Plump, Andrew S
    Larson, Martin G
    O'Donnell, Christopher J
    Yin, Xiaoyan
    Bobbo, Marco
    D'Adamo, Adamo P
    Iorio, Annamaria
    Sinagra, Gianfranco
    Carracedo, Angel
    Cummings, Steven R
    Nalls, Michael A
    Jula, Antti
    Kontula, Kimmo K
    Marjamaa, Annukka
    Oikarinen, Lasse
    Perola, Markus
    Porthan, Kimmo
    Erbel, Raimund
    Hoffmann, Per
    Jöckel, Karl-Heinz
    Kälsch, Hagen
    Nöthen, Markus M
    den Hoed, Marcel
    Loos, Ruth J F
    Thelle, Dag S
    Gieger, Christian
    Meitinger, Thomas
    Perz, Siegfried
    Peters, Annette
    Prucha, Hanna
    Sinner, Moritz F
    Waldenberger, Melanie
    de Boer, Rudolf A
    Franke, Lude
    van der Vleuten, Pieter A
    Beckmann, Britt Maria
    Martens, Eimo
    Bardai, Abdennasser
    Hofman, Nynke
    Wilde, Arthur A M
    Behr, Elijah R
    Dalageorgou, Chrysoula
    Giudicessi, John R
    Medeiros-Domingo, Argelia
    Barc, Julien
    Kyndt, Florence
    Probst, Vincent
    Ghidoni, Alice
    Insolia, Roberto
    Hamilton, Robert M
    Scherer, Stephen W
    Brandimarto, Jeffrey
    Margulies, Kenneth
    Moravec, Christine E
    Greco M, Fabiola Del
    Fuchsberger, Christian
    O'Connell, Jeffrey R
    Lee, Wai K
    Watt, Graham C M
    Campbell, Harry
    Wild, Sarah H
    El Mokhtari, Nour E
    Frey, Norbert
    Asselbergs, Folkert W
    Mateo Leach, Irene
    Navis, Gerjan
    van den Berg, Maarten P
    van Veldhuisen, Dirk J
    Kellis, Manolis
    Krijthe, Bouwe P
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Franco, Oscar H
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Hofman, Albert
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Kors, Jan A
    Uitterlinden, André G
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Witteman, Jacqueline C M
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Kedenko, Lyudmyla
    Lamina, Claudia
    Oostra, Ben A
    Abecasis, Gonçalo R
    Lakatta, Edward G
    Mulas, Antonella
    Orrú, Marco
    Schlessinger, David
    Uda, Manuela
    Markus, Marcello R P
    Völker, Uwe
    Snieder, Harold
    Spector, Timothy D
    Ärnlöv, Johan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Sundström, Johan
    Syvänen, Ann-Christine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Kivimaki, Mika
    Kähönen, Mika
    Mononen, Nina
    Raitakari, Olli T
    Viikari, Jorma S
    Adamkova, Vera
    Kiechl, Stefan
    Brion, Maria
    Nicolaides, Andrew N
    Paulweber, Bernhard
    Haerting, Johannes
    Dominiczak, Anna F
    Nyberg, Fredrik
    Whincup, Peter H
    Hingorani, Aroon D
    Schott, Jean-Jacques
    Bezzina, Connie R
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Ferrucci, Luigi
    Gasparini, Paolo
    Wilson, James F
    Rudan, Igor
    Franke, Andre
    Mühleisen, Thomas W
    Pramstaller, Peter P
    Lehtimäki, Terho J
    Paterson, Andrew D
    Parsa, Afshin
    Liu, Yongmei
    van Duijn, Cornelia M
    Siscovick, David S
    Gudnason, Vilmundur
    Jamshidi, Yalda
    Salomaa, Veikko
    Felix, Stephan B
    Sanna, Serena
    Ritchie, Marylyn D
    Stricker, Bruno H
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Stefansson, Kari
    Boyer, Laurie A
    Cappola, Thomas P
    Olsen, Jesper V
    Lage, Kasper
    Schwartz, Peter J
    Kääb, Stefan
    Chakravarti, Aravinda
    Ackerman, Michael J
    Pfeufer, Arne
    de Bakker, Paul I W
    Newton-Cheh, Christopher
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.2014In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 8, p. 826-836Article in journal (Refereed)
    Abstract [en]

    The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.

  • 6. Aulchenko, Yurii S
    et al.
    Ripatti, Samuli
    Lindqvist, Ida
    Boomsma, Dorret
    Heid, Iris M
    Pramstaller, Peter P
    Penninx, Brenda W J H
    Janssens, A Cecile J W
    Wilson, James F
    Spector, Tim
    Martin, Nicholas G
    Pedersen, Nancy L
    Kyvik, Kirsten Ohm
    Kaprio, Jaakko
    Hofman, Albert
    Freimer, Nelson B
    Jarvelin, Marjo-Riitta
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Campbell, Harry
    Rudan, Igor
    Johansson, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Marroni, Fabio
    Hayward, Caroline
    Vitart, Veronique
    Jonasson, Inger
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Pattaro, Cristian
    Wright, Alan
    Hastie, Nick
    Pichler, Irene
    Hicks, Andrew A
    Falchi, Mario
    Willemsen, Gonneke
    Hottenga, Jouke-Jan
    de Geus, Eco J C
    Montgomery, Grant W
    Whitfield, John
    Magnusson, Patrik
    Saharinen, Juha
    Perola, Markus
    Silander, Kaisa
    Isaacs, Aaron
    Sijbrands, Eric J G
    Uitterlinden, Andre G
    Witteman, Jacqueline C M
    Oostra, Ben A
    Elliott, Paul
    Ruokonen, Aimo
    Sabatti, Chiara
    Gieger, Christian
    Meitinger, Thomas
    Kronenberg, Florian
    Döring, Angela
    Wichmann, H-Erich
    Smit, Johannes H
    McCarthy, Mark I
    van Duijn, Cornelia M
    Peltonen, Leena
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts2009In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 41, no 1, p. 47-55Article in journal (Refereed)
    Abstract [en]

    Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. Our study included a total of 17,797-22,562 persons, aged 18-104 years and from geographic regions spanning from the Nordic countries to Southern Europe. We established 22 loci associated with serum lipid levels at a genome-wide significance level (P < 5 x 10(-8)), including 16 loci that were identified by previous GWA studies. The six newly identified loci in our cohort samples are ABCG5 (TC, P = 1.5 x 10(-11); LDL, P = 2.6 x 10(-10)), TMEM57 (TC, P = 5.4 x 10(-10)), CTCF-PRMT8 region (HDL, P = 8.3 x 10(-16)), DNAH11 (LDL, P = 6.1 x 10(-9)), FADS3-FADS2 (TC, P = 1.5 x 10(-10); LDL, P = 4.4 x 10(-13)) and MADD-FOLH1 region (HDL, P = 6 x 10(-11)). For three loci, effect sizes differed significantly by sex. Genetic risk scores based on lipid loci explain up to 4.8% of variation in lipids and were also associated with increased intima media thickness (P = 0.001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors.

  • 7.
    Barban, Nicola
    et al.
    Univ Oxford, Dept Sociol, Oxford, England.;Univ Oxford, Nuffield Coll, Oxford, England..
    Jansen, Rick
    Vrije Univ Amsterdam Med Ctr, Dept Psychiat, Amsterdam, Netherlands..
    de Vlaming, Ronald
    Erasmus Sch Econ, Dept Appl Econ, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands..
    Vaez, Ahmad
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands.;Isfahan Univ Med Sci, Res Inst Primordial Prevent Noncommunicable Dis, Esfahan, Iran..
    Mandemakers, Jornt J.
    Wageningen Univ Res, Sociol Consumpt & Households, Wageningen, Netherlands..
    Tropf, Felix C.
    Univ Oxford, Dept Sociol, Oxford, England.;Univ Oxford, Nuffield Coll, Oxford, England..
    Shen, Xia
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.;Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland..
    Wilson, James F.
    Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland..
    Chasman, Daniel I.
    Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Nolte, Illa M.
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Tragante, Vinicius
    Univ Med Ctr Utrecht, Div Heart & Lungs, Dept Cardiol, Utrecht, Netherlands..
    van der Laan, Sander W.
    Univ Med Ctr Utrecht, Div Heart & Lungs, Lab Expt Cardiol, Utrecht, Netherlands..
    Perry, John R. B.
    Univ Cambridge, Inst Metab Sci, MRC Epidemiol Unit, Cambridge, England..
    Kong, Augustine
    Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland.;Amgen Inc, deCODE Genet, Reykjavik, Iceland..
    Ahluwalia, Tarunveer S.
    Univ Copenhagen, Fac Hlth & Med Sci, Sect Metab Genet, Novo Nordisk Fdn Ctr Basic Metab Res, Copenhagen, Denmark.;Steno Diabet Ctr, Gentofte, Denmark.;Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, Copenhagen, Denmark..
    Albrecht, Eva
    Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Genet Epidemiol, Neuherberg, Germany..
    Yerges-Armstrong, Laura
    Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA..
    Atzmon, Gil
    Albert Einstein Coll Med, Dept Med, Inst Aging Res, Bronx, NY 10467 USA.;Albert Einstein Coll Med, Diabet Res Ctr, Bronx, NY 10467 USA.;Albert Einstein Coll Med, Inst Aging Res, Dept Genet, Bronx, NY 10467 USA.;Univ Haifa, Dept Nat Sci, Haifa, Israel..
    Auro, Kirsi
    Natl Inst Hlth & Welf, Dept Hlth, Helsinki, Finland.;Univ Helsinki, Inst Mol Med FIMM, Helsinki, Finland..
    Ayers, Kristin
    Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England..
    Bakshi, Andrew
    Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia..
    Ben-Avraham, Danny
    Albert Einstein Coll Med, Inst Aging Res, Dept Genet, Bronx, NY 10467 USA..
    Berger, Klaus
    Univ Munster, Inst Epidemiol & Social Med, Munster, Germany..
    Bergman, Aviv
    Albert Einstein Coll Med, Dept Syst & Computat Biol, Bronx, NY 10467 USA.;Albert Einstein Coll Med, Dept Pathol, Bronx, NY 10467 USA.;Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10467 USA..
    Bertram, Lars
    Univ Lubeck, Lubeck Interdisciplinary Platform Genome Analyt, Inst Neurogenet, Lubeck, Germany.;Univ Lubeck, Inst Integrat & Expt Genom, Lubeck, Germany.;Imperial Coll, Fac Med, Sch Publ Hlth, London, England..
    Bielak, Lawrence F.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Bjornsdottir, Gyda
    Amgen Inc, deCODE Genet, Reykjavik, Iceland..
    Bonder, Marc Jan
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Genom Coordinat Ctr, Groningen, Netherlands..
    Broer, Linda
    Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    Bui, Minh
    Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Barbieri, Caterina
    San Raffaele Res Inst, Div Genet & Cell Biol, Milan, Italy..
    Cavadino, Alana
    UCL Inst Child Hlth, Populat Policy & Practice, London, England.;Queen Mary Univ London, Wolfson Inst Preventat Med, Ctr Environm & Prevent Med, London, England..
    Chavarro, Jorge E.
    Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA USA.;Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA.;Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA..
    Turman, Constance
    Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA..
    Concas, Maria Pina
    CNR, UOS Sassari, Inst Genet & Biomed Res, Sassari, Italy..
    Cordell, Heather J.
    Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England..
    Davies, Gail
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland..
    Eibich, Peter
    Univ Oxford, Hlth Econ Res Ctr, Oxford, England..
    Eriksson, Nicholas
    23andMe Inc, Mountain View, CA USA..
    Esko, Tonu
    Broad Inst MIT & Harvard, Cambridge, MA USA..
    Eriksson, Joel
    Univ Gothenburg, Sahlgrenska Acad, Inst Med, Ctr Bone & Arthrit Res, Gothenburg, Sweden..
    Falahi, Fahimeh
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Felix, Janine F.
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Generat R Study Grp, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Pediat, Rotterdam, Netherlands..
    Fontana, Mark Alan
    Univ Southern Calif, Ctr Econ & Social Res, Los Angeles, CA USA..
    Franke, Lude
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Genom Coordinat Ctr, Groningen, Netherlands..
    Gandin, Ilaria
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy..
    Gaskins, Audrey J.
    Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA USA..
    Gieger, Christian
    Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Res Unit Mol Epidemiol, Neuherberg, Germany.;Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Epidemiol 2, Neuherberg, Germany..
    Gunderson, Erica P.
    Kaiser Permanente Northern Calif, Div Res, Cardiovasc & Metab Condit Sect, Oakland, CA USA..
    Guo, Xiuqing
    Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Hayward, Caroline
    Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland..
    He, Chunyan
    Indiana Univ, Richard M Fairbanks Sch Publ Hlth, Dept Epidemiol, Indianapolis, IN 46204 USA..
    Hofer, Edith
    Med Univ Graz, Clin Div Neurogeriatr, Dept Neurol, Graz, Austria.;Med Univ Graz, Inst Med Informat Stat & Documentat, Graz, Austria..
    Huang, Hongyan
    Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA..
    Joshi, Peter K.
    Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland..
    Kanoni, Stavroula
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England..
    Karlsson, Robert
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Kiechl, Stefan
    Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria..
    Kifley, Annette
    Univ Sydney, Dept Ophthalmol, Ctr Vis Res, Westmead, NSW, Australia.;Univ Sydney, Westmead Inst Med Res, Westmead, NSW, Australia..
    Kluttig, Alexander
    Martin Luther Univ Halle Wittenberg, Inst Med Epidemiol Biostat & Informat, Halle, Saale, Germany..
    Kraft, Peter
    Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.;Harvard TH Chan Sch Publ Hlth, Dept Biostat, Boston, MA USA..
    Lagou, Vasiliki
    Katholieke Univ Leuven, Dept Neurosci, Leuven, Belgium.;Katholieke Univ Leuven, Dept Microbiol & Immunol, Leuven, Belgium.;VIB, Translat Immunol Lab, Leuven, Belgium..
    Lecoeur, Cecile
    Univ Lille, CNRS, Inst Pasteur Lille, Lille, France..
    Lahti, Jari
    Univ Helsinki, Inst Behav Sci, Helsinki, Finland.;Univ Helsinki, Helsinki Coll Adv Studies, Helsinki, Finland.;Folkhalsan Res Ctr, Helsinki, Finland..
    Li-Gao, Ruifang
    Leiden Univ, Med Ctr, Dept Clin Epidemiol, Leiden, Netherlands..
    Lind, Penelope A.
    QIMR Berghofer Med Res Inst, Psychiat Genet, Herston Brisbane, Qld, Australia..
    Liu, Tian
    Max Planck Inst Human Dev, Ctr Lifespan Psychol, Berlin, Germany.;Max Planck Inst Mol Genet, Dept Vertebrate Genom, Berlin, Germany..
    Makalic, Enes
    Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Mamasoula, Crysovalanto
    Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England..
    Matteson, Lindsay
    Univ Minnesota, Dept Psychol, Minnesota Ctr Twin & Family Res, Minneapolis, MN USA..
    Mbarek, Hamdi
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands.;EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    McArdle, Patrick F.
    Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA..
    McMahon, George
    Univ Bristol, Sch Social & Community Med, Bristol, Avon, England..
    Meddens, S. Fleur W.
    Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands.;Vrije Univ Amsterdam, Complex Trait Genet, Amsterdam, Netherlands..
    Mihailov, Evelin
    Univ Tartu, Estonian Genome Ctr, Tartu, Estonia..
    Miller, Mike
    Univ Minnesota, Dept Psychol, Minneapolis, MN USA..
    Missmer, Stacey A.
    Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.;Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA USA.;Harvard Med Sch, Boston, MA USA..
    Monnereau, Claire
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Generat R Study Grp, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Pediat, Rotterdam, Netherlands..
    van der Most, Peter J.
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Myhre, Ronny
    Inst Publ Hlth, Area Hlth Data & Digitalizat, Dept Genet & Bioinformat, Oslo, Norway..
    Nalls, Mike A.
    NIA, Lab Neurogenet, US Natl Inst Hlth, Bethesda, MD 20892 USA..
    Nutile, Teresa
    CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy..
    Kalafati, Ioanna Panagiota
    Harokopio Univ, Sch Hlth Sci & Educ, Dept Nutr & Dietet, Athens, Greece..
    Porcu, Eleonora
    Cittadella Univ Monserrato, Ist Ric Genet & Biomed, CMR, Cagliari, Italy.;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy..
    Prokopenko, Inga
    Imperial Coll London, Sch Publ Hlth, Dept Genom Common Dis, London, England.;Univ Oxford, Nuffield Dept Med, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Radcliffe Dept Med, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England..
    Rajan, Kumar B.
    Rush Univ, Med Ctr, Chicago, IL 60612 USA..
    Rich-Edwards, Janet
    Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA.;Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.;Brigham & Womens Hosp, Connors Ctr Womens Hlth & Gender Biol, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Rietveld, Cornelius A.
    Erasmus Sch Econ, Dept Appl Econ, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands..
    Robino, Antonietta
    IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy..
    Rose, Lynda M.
    Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Rueedi, Rico
    Univ Lausanne, Dept Computat Biol, Lausanne, Switzerland.;Swiss Inst Bioinformat, Lausanne, Switzerland..
    Ryan, Kathleen-A
    Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA..
    Saba, Yasaman
    Med Univ Graz, Ctr Mol Med, Inst Mol Biol & Biochem, Graz, Austria..
    Schmidt, Daniel
    Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Smith, Jennifer A.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Stolk, Lisette
    Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    Streeten, Elizabeth
    Univ Maryland, Sch Med, Div Endocrinol Diabet & Nutr, Baltimore, MD 21201 USA..
    Toenjes, Anke
    Univ Leipzig, Dept Med, Leipzig, Germany..
    Thorleifsson, Gudmar
    Amgen Inc, deCODE Genet, Reykjavik, Iceland..
    Ulivi, Sheila
    IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy..
    Wedenoja, Juho
    Univ Helsinki, Dept Publ Hlth, Helsinki, Finland..
    Wellmann, Juergen
    Univ Munster, Inst Epidemiol & Social Med, Munster, Germany..
    Willeit, Peter
    Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria.;Kings British Heart Fdn Ctr, Kings Coll London, London, England.;Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England..
    Yao, Jie
    Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Yengo, Loic
    Univ Lille, CNRS, Inst Pasteur Lille, Lille, France.;Univ Queensland, Ctr Neurogenet & Stat Genom, Brisbane, Qld, Australia..
    Zhao, Jing Hua
    Univ Cambridge, Inst Metab Sci, MRC Epidemiol Unit, Cambridge, England..
    Zhao, Wei
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Zhernakova, Dania V.
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Genom Coordinat Ctr, Groningen, Netherlands..
    Amin, Najaf
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Andrews, Howard
    New York State Psychiat Inst & Hosp, Data Coordinating Ctr, New York, NY 10032 USA..
    Balkau, Beverley
    Univ Lille, CNRS, Inst Pasteur Lille, Lille, France..
    Barzilai, Nir
    Albert Einstein Coll Med, Dept Med, Inst Aging Res, Bronx, NY 10467 USA.;Albert Einstein Coll Med, Diabet Res Ctr, Bronx, NY 10467 USA..
    Bergmann, Sven
    Univ Lausanne, Dept Computat Biol, Lausanne, Switzerland.;Swiss Inst Bioinformat, Lausanne, Switzerland..
    Biino, Ginevra
    Natl Res Council Italy, Inst Mol Genet, Pavia, Italy..
    Bisgaard, Hans
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, Copenhagen, Denmark..
    Bonnelykke, Klaus
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, Copenhagen, Denmark..
    Boomsma, Dorret I.
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands.;EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Buring, Julie E.
    Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Campbell, Harry
    Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland..
    Cappellani, Stefania
    IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy..
    Ciullo, Marina
    CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy.;IRCCS Neuromed, Pozzilli, Isernia, Italy..
    Cox, Simon R.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland..
    Cucca, Francesco
    Cittadella Univ Monserrato, Ist Ric Genet & Biomed, CMR, Cagliari, Italy.;Univ Sassari, Dipartimento Sci Biomed, Sassari, Italy..
    Toniolo, Daniela
    San Raffaele Res Inst, Div Genet & Cell Biol, Milan, Italy..
    Davey-Smith, George
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Deary, Ian J.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland..
    Dedoussis, George
    Harokopio Univ, Sch Hlth Sci & Educ, Dept Nutr & Dietet, Athens, Greece..
    Deloukas, Panos
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.;King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah, Saudi Arabia..
    van Duijn, Cornelia M.
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    de Geus, Eco J. C.
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands.;EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Eriksson, Johan G.
    Folkhalsan Res Ctr, Helsinki, Finland.;Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland.;Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland.;Helsinki Univ Cent Hosp, Unit Gen Practice, Helsinki, Finland.;Vasa Cent Hosp, Vaasa, Finland..
    Evans, Denis A.
    Rush Univ, Med Ctr, Chicago, IL 60612 USA..
    Faul, Jessica D.
    Univ Michigan, Inst Social Res, Survey Res Ctr, Ann Arbor, MI USA..
    Sala, Cinzia Felicita
    San Raffaele Res Inst, Div Genet & Cell Biol, Milan, Italy..
    Froguel, Philippe
    Univ Lille, CNRS, Inst Pasteur Lille, Lille, France..
    Gasparini, Paolo
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.;Sidra, Div Expt Genet, Doha, Qatar..
    Girotto, Giorgia
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.;Sidra, Div Expt Genet, Doha, Qatar..
    Grabe, Hans-Joergen
    Univ Med Greifswald, Dept Psychiat, Greifswald, Germany..
    Greiser, Karin Halina
    German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany..
    Groenen, Patrick J. F.
    Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands.;Erasmus Univ, Erasmus Sch Econ, Econometric Inst, Rotterdam, Netherlands..
    de Haan, Hugoline G.
    Leiden Univ, Med Ctr, Dept Clin Epidemiol, Leiden, Netherlands..
    Haerting, Johannes
    Martin Luther Univ Halle Wittenberg, Inst Med Epidemiol Biostat & Informat, Halle, Saale, Germany..
    Harris, Tamara B.
    NIA, Lab Epidemiol & Populat Sci, Bethesda, MD 20892 USA..
    Heath, Andrew C.
    QIMR Berghofer Med Res Inst, Genet Epidemiol, Brisbane, Qld, Australia..
    Heikkila, Kauko
    Univ Helsinki, Inst Mol Med FIMM, Helsinki, Finland..
    Hofman, Albert
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands.;Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA..
    Homuth, Georg
    Univ Med Greifswald, Interfac Inst Genet & Funct Genom, Greifswald, Germany..
    Holliday, Elizabeth G.
    Univ Newcastle, Sch Med & Publ Hlth, Newcastle, NSW, Australia.;Hunter Med Res Inst, Newcastle, NSW, Australia..
    Hopper, John
    Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    Hypponen, Elina
    UCL Inst Child Hlth, Populat Policy & Practice, London, England.;Univ South Australia, Sansom Inst Hlth Res, Ctr Populat Hlth Res, Adelaide, SA, Australia.;Univ South Australia, Sch Hlth Sci, Adelaide, SA, Australia.;South Australian Hlth & Med Res Inst, Adelaide, SA, Australia..
    Jacobsson, Bo
    Inst Publ Hlth, Area Hlth Data & Digitalizat, Dept Genet & Bioinformat, Oslo, Norway.;Gothenburg Univ, Sahlgrenska Acad, Inst Clin Sci, Dept Obstet & Gynecol, Gothenburg, Sweden..
    Jaddoe', Vincent W. V.
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Generat R Study Grp, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Pediat, Rotterdam, Netherlands..
    Johannesson, Magnus
    Stockholm Sch Econ, Dept Econ, Stockholm, Sweden..
    Kahonen, Mika
    Univ Tampere, Dept Clin Physiol, Tampere, Finland.;Tampere Univ Hosp, Tampere, Finland.;Natl Inst Hlth & Welf, Diabet Prevent Unit, Helsinki, Finland..
    Kajantie, Eero
    Helsinki Univ Cent Hosp, Childrens Hosp, Helsinki, Finland.;Univ Helsinki, Helsinki, Finland.;Oulu Univ Hosp, MRC Oulu, Dept Obstet & Gynecol, Oulu, Finland.;Univ Oulu, Oulu, Finland..
    Kardia, Sharon L. R.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Keavney, Bernard
    Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England.;Univ Manchester, Inst Cardiovasc Sci, Manchester, Lancs, England..
    Kolcic, Ivana
    Univ Split, Fac Med, Dept Publ Hlth, Split, Croatia..
    Koponen, Paivikki
    Natl Inst Hlth & Welf, Hlth Monitoring Unit, Helsinki, Finland..
    Kovacs, Peter
    Univ Leipzig, IFB Adipos Dis, Leipzig, Germany..
    Kronenberg, Florian
    Med Univ Innsbruck, Div Genet Epidemiol, Innsbruck, Austria..
    Kutalik, Zoltan
    Swiss Inst Bioinformat, Lausanne, Switzerland.;Lausanne Univ Hosp CHUV, Inst Social & Prevent Med, Lausanne, Switzerland..
    La Bianca, Martina
    IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy..
    Lachance, Genevieve
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England..
    Iacono, William G.
    Univ Minnesota, Dept Psychol, Minneapolis, MN USA..
    Lai, Sandra
    Cittadella Univ Monserrato, Ist Ric Genet & Biomed, CMR, Cagliari, Italy..
    Lehtimaki, Terho
    Univ Tampere, Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Sch Med, Tampere, Finland..
    Liewald, David C.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland..
    Lindgren, Cecilia M.
    Univ Oxford, Nuffield Dept Med, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Radcliffe Dept Med, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England.;NIHR Oxford Biomed Res Ctr, Oxford, England.;Univ Oxford, Big Data Inst, Li Ka Shing Ctr Hlth Informat & Discovery, Oxford, England..
    Liu, Yongmei
    Wake Forest Sch Med, Div Publ Hlth Sci, Winston Salem, NC USA..
    Luben, Robert
    Univ Cambridge, Strangeways Res Lab, Cambridge, England..
    Lucht, Michael
    Natl Inst Hlth & Welf, Dept Chron Dis Prevent, Helsinki, Finland..
    Luoto, Riitta
    UKK Inst Hlth Promot, Tampere, Finland..
    Magnus, Per
    Inst Publ Hlth, Area Hlth Data & Digitalizat, Dept Genet & Bioinformat, Oslo, Norway..
    Magnusson, Patrik K. E.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Martin, Nicholas G.
    QIMR Berghofer Med Res Inst, Psychiat Genet, Herston Brisbane, Qld, Australia..
    McGue, Matt
    Univ Minnesota, Dept Psychol, Minneapolis, MN USA.;Univ Southern Denmark, Inst Publ Hlth, Danish Aging Res Ctr, Odense, Denmark.;Univ Southern Denmark, Inst Publ Hlth, Danish Twin Registry, Odense, Denmark..
    McQuillan, Ruth
    Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland..
    Medland, Sarah E.
    QIMR Berghofer Med Res Inst, Psychiat Genet, Herston Brisbane, Qld, Australia..
    Meisinger, Christa
    Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Epidemiol 2, Neuherberg, Germany.;Cent Hosp Augsburg, MONICA KORA Myocardial Infarct Registry, Augsburg, Germany..
    Mellstrom, Dan
    Univ Gothenburg, Sahlgrenska Acad, Inst Med, Ctr Bone & Arthrit Res, Gothenburg, Sweden..
    Metspalu, Andres
    Univ Tartu, Estonian Genome Ctr, Tartu, Estonia.;Univ Tartu, Inst Mol & Cell Biol, Tartu, Estonia..
    Traglia, Michela
    San Raffaele Res Inst, Div Genet & Cell Biol, Milan, Italy..
    Milani, Lili
    Univ Tartu, Estonian Genome Ctr, Tartu, Estonia..
    Mitchell, Paul
    Univ Sydney, Dept Ophthalmol, Ctr Vis Res, Westmead, NSW, Australia.;Univ Sydney, Westmead Inst Med Res, Westmead, NSW, Australia..
    Montgomery, Grant W.
    QIMR Berghofer Med Res Inst, Genet Epidemiol, Brisbane, Qld, Australia.;Univ Queensland, Mol Biosci, Brisbane, Qld, Australia..
    Mook-Kanamori, Dennis
    Leiden Univ, Med Ctr, Dept Clin Epidemiol, Leiden, Netherlands.;Leiden Univ, Med Ctr, Dept Publ Hlth & Primary Care, Leiden, Netherlands.;King Faisal Specialist Hosp & Res Ctr, Epidemiol Sect, Dept BESC, Riyadh, Saudi Arabia..
    de Mutsert, Renee
    Leiden Univ, Med Ctr, Dept Clin Epidemiol, Leiden, Netherlands..
    Nohr, Ellen A.
    Univ Southern Denmark, Dept Clin Res, Res Unit Gynecol & Obstet, Odense, Denmark..
    Ohlsson, Claes
    Univ Gothenburg, Sahlgrenska Acad, Inst Med, Ctr Bone & Arthrit Res, Gothenburg, Sweden..
    Olsen, Porn
    Aarhus Univ, Dept Clin Epidemiol, Aarhus, Denmark..
    Ong, Ken K.
    Univ Cambridge, Inst Metab Sci, MRC Epidemiol Unit, Cambridge, England..
    Paternoster, Lavinia
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Pattie, Alison
    Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland..
    Penninx, Brenda W. J. H.
    Vrije Univ Amsterdam Med Ctr, Dept Psychiat, Amsterdam, Netherlands.;EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Perola, Markus
    Natl Inst Hlth & Welf, Dept Hlth, Helsinki, Finland.;Univ Helsinki, Inst Mol Med FIMM, Helsinki, Finland.;Univ Tartu, Estonian Genome Ctr, Tartu, Estonia..
    Peyser, Patricia A.
    Univ Michigan, Dept Epidemiol, Ann Arbor, MI 48109 USA..
    Pirastu, Mario
    CNR, UOS Sassari, Inst Genet & Biomed Res, Sassari, Italy..
    Polasek, Ozren
    Univ Split, Fac Med, Dept Publ Hlth, Split, Croatia..
    Power, Chris
    UCL Inst Child Hlth, Populat Policy & Practice, London, England..
    Kaprio, Jaakko
    Natl Inst Hlth & Welf, Dept Hlth, Helsinki, Finland.;Univ Helsinki, Inst Mol Med FIMM, Helsinki, Finland.;Univ Helsinki, Dept Publ Hlth, Helsinki, Finland..
    Raffel, Leslie J.
    Cedars Sinai Med Ctr, Med Genet Inst, Los Angeles, CA 90048 USA..
    Raikkonen, Katri
    Univ Helsinki, Inst Behav Sci, Helsinki, Finland..
    Raitakari, Olli
    Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, Turku, Finland.;Turku Univ Hosp, Dept Clin Physiol & Nucl Med, Turku, Finland..
    Ridker, Paul M.
    Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Ring, Susan M.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Roll, Kathryn
    Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Rudan, Igor
    Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Ctr Global Hlth Res, Edinburgh, Midlothian, Scotland..
    Ruggiero, Daniela
    CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy..
    Rujescu, Dan
    Martin Luther Univ Halle Wittenberg, Dept Psychiat, Halle, Saale, Germany..
    Salomaa, Veikko
    Natl Inst Hlth & Welf, Dept Hlth, Helsinki, Finland..
    Schlessinger, David
    NIA, Lab Genet, Baltimore, MD 21224 USA..
    Schmidt, Helena
    Med Univ Graz, Ctr Mol Med, Inst Mol Biol & Biochem, Graz, Austria..
    Schmidt, Reinhold
    Med Univ Graz, Clin Div Neurogeriatr, Dept Neurol, Graz, Austria..
    Schupf, Nicole
    Columbia Univ, Med Ctr, Dept Epidemiol, New York, NY USA.;Columbia Univ, Dept Psychiat, Med Ctr, New York, NY USA..
    Smit, Johannes
    Vrije Univ Amsterdam Med Ctr, Dept Psychiat, Amsterdam, Netherlands.;EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Sorice, Rossella
    CNR, Inst Genet & Biophys A Buzzati Traverso, Naples, Italy.;IRCCS Neuromed, Pozzilli, Isernia, Italy..
    Spector, Tim D.
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England..
    Starr, John M.
    Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland.;Univ Edinburgh, Alzheimer Scotland Dementia Res Ctr, Edinburgh, Midlothian, Scotland..
    Stockl, Doris
    Columbia Univ, Med Ctr, Dept Epidemiol, New York, NY USA.;Columbia Univ, Dept Psychiat, Med Ctr, New York, NY USA..
    Strauch, Konstantin
    Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Genet Epidemiol, Neuherberg, Germany.;Ludwig Maximilians Univ Munchen, Chair Genet Epidemiol, Inst Med Informat Biometry & Epidemiol, Munich, Germany..
    Stumvoll, Michael
    Univ Leipzig, Dept Med, Leipzig, Germany.;Univ Leipzig, IFB Adipos Dis, Leipzig, Germany..
    Swertz, Morris A.
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Genom Coordinat Ctr, Groningen, Netherlands..
    Thorsteinsdottir, Unnur
    Amgen Inc, deCODE Genet, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Thurik, A. Roy
    Erasmus Sch Econ, Dept Appl Econ, Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands.;Montpellier Business Sch, Montpellier, France..
    Timpson, Nicholas J.
    Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Tung, Joyce Y.
    23andMe Inc, Mountain View, CA USA..
    Uitterlinden, Andre G.
    Erasmus Sch Econ, Dept Appl Econ, Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands.;Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    Vaccargiu, Simona
    CNR, UOS Sassari, Inst Genet & Biomed Res, Sassari, Italy..
    Viikari, Jorma
    Univ Turku, Dept Med, Turku, Finland.;Turku Univ Hosp, Div Med, Turku, Finland..
    Vitart, Veronique
    Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland..
    Voelzke, Henry
    Univ Med Greifswald, Inst Community Med, Greifswald, Germany..
    Vollenweider, Peter
    Lausanne Univ Hosp CHUV, Dept Internal Med, Lausanne, Switzerland..
    Vuckovic, Dragana
    Univ Trieste, Dept Med Surg & Hlth Sci, Trieste, Italy.;Sidra, Div Expt Genet, Doha, Qatar..
    Waage, Johannes
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, COPSAC, Copenhagen, Denmark..
    Wagner, Gert G.
    Max Planck Inst Human Dev, German Socioecon Panel Study SOEP, Berlin, Germany.;Berlin Univ Technol TUB, Berlin, Germany..
    Wang, Jie Jin
    Univ Sydney, Dept Ophthalmol, Ctr Vis Res, Westmead, NSW, Australia.;Univ Sydney, Westmead Inst Med Res, Westmead, NSW, Australia..
    Wareham, Nicholas J.
    Univ Cambridge, Inst Metab Sci, MRC Epidemiol Unit, Cambridge, England..
    Weir, David R.
    Univ Michigan, Inst Social Res, Survey Res Ctr, Ann Arbor, MI USA..
    Willemsen, Gonneke
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands.;EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Willeit, Johann
    Med Univ Innsbruck, Dept Neurol, Innsbruck, Austria..
    Wright, Alan F.
    Univ Edinburgh, MRC Human Genet Unit, MRC Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland..
    Zondervan, Krina T.
    Univ Oxford, Wellcome Trust Ctr Human Genet, Genet & Genom Epidemiol Unit, Oxford, England.;Univ Oxford, Nuffield Dept Obstet & Gynaecol, Endometriosis CaRe Ctr, Oxford, England..
    Stefansson, Kari
    Amgen Inc, deCODE Genet, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Krueger, Robert F.
    Univ Minnesota, Dept Psychol, Minneapolis, MN USA..
    Lee, James J.
    Univ Minnesota, Dept Psychol, Minneapolis, MN USA..
    Benjamin, Daniel J.
    Univ Southern Calif, Ctr Econ & Social Res, Los Angeles, CA USA.;Natl Bur Econ Res, Cambridge, MA 02138 USA..
    Cesarini, David
    NYU, Dept Econ, New York, NY 10003 USA.;Res Inst Ind Econ, Stockholm, Sweden..
    Koellinger, Philipp D.
    Erasmus Sch Econ, Dept Appl Econ, Rotterdam, Netherlands.;Erasmus Univ, Inst Behav & Biol, Rotterdam, Netherlands.;Vrije Univ Amsterdam, Complex Trait Genet, Amsterdam, Netherlands..
    den Hoed, M
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Snieder, Harold
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Mills, Melinda C.
    Univ Oxford, Dept Sociol, Oxford, England.;Univ Oxford, Nuffield Coll, Oxford, England..
    Genome-wide analysis identifies 12 loci influencing human reproductive behavior2016In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 12, p. 1462-1472Article in journal (Refereed)
    Abstract [en]

    The genetic architecture of human reproductive behavior age at first birth (AFB) and number of children ever born (NEB) has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the underlying mechanisms of AFB and NEB are poorly understood. We report a large genome-wide association study of both sexes including 251,151 individuals for AFB and 343,072 individuals for NEB. We identified 12 independent loci that are significantly associated with AFB and/or NEB in a SNP-based genome-wide association study and 4 additional loci associated in a gene-based effort. These loci harbor genes that are likely to have a role, either directly or by affecting non-local gene expression, in human reproduction and infertility, thereby increasing understanding of these complex traits.

  • 8. Bard-Chapeau, Emilie A
    et al.
    Nguyen, Anh-Tuan
    Rust, Alistair G
    Sayadi, Ahmed
    Institute of Molecular and Cell Biology, Singapore, Singapore.
    Lee, Philip
    Chua, Belinda Q
    New, Lee-Sun
    de Jong, Johann
    Ward, Jerrold M
    Chin, Christopher K Y
    Chew, Valerie
    Toh, Han Chong
    Abastado, Jean-Pierre
    Benoukraf, Touati
    Soong, Richie
    Bard, Frederic A
    Dupuy, Adam J
    Johnson, Randy L
    Radda, George K
    Chan, Eric Chun Yong
    Wessels, Lodewyk F A
    Adams, David J
    Jenkins, Nancy A
    Copeland, Neal G
    Transposon mutagenesis identifies genes driving hepatocellular carcinoma in a chronic hepatitis B mouse model.2014In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 1Article in journal (Refereed)
    Abstract [en]

    The most common risk factor for developing hepatocellular carcinoma (HCC) is chronic infection with hepatitis B virus (HBV). To better understand the evolutionary forces driving HCC, we performed a near-saturating transposon mutagenesis screen in a mouse HBV model of HCC. This screen identified 21 candidate early stage drivers and a very large number (2,860) of candidate later stage drivers that were enriched for genes that are mutated, deregulated or functioning in signaling pathways important for human HCC, with a striking 1,199 genes being linked to cellular metabolic processes. Our study provides a comprehensive overview of the genetic landscape of HCC.

  • 9. Bentham, James
    et al.
    Morris, David L
    Cunninghame Graham, Deborah S
    Pinder, Christopher L
    Tombleson, Philip
    Behrens, Timothy W
    Martín, Javier
    Fairfax, Benjamin P
    Knight, Julian C
    Chen, Lingyan
    Replogle, Joseph
    Syvänen, Ann-Christine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Rönnblom, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Rheumatology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Graham, Robert R
    Wither, Joan E
    Rioux, John D
    Alarcón-Riquelme, Marta E
    Vyse, Timothy J
    Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus2015In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 47, no 12, p. 1457-1464Article in journal (Refereed)
    Abstract [en]

    Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry, constituting a new GWAS, a meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including ten new associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-representation (n = 16) of transcription factors among SLE susceptibility genes. This finding supports the view that aberrantly regulated gene expression networks in multiple cell types in both the innate and adaptive immune response contribute to the risk of developing SLE.

  • 10. Berndt, Sonja I.
    et al.
    Gustafsson, Stefan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Maegi, Reedik
    Ganna, Andrea
    Wheeler, Eleanor
    Feitosa, Mary F.
    Justice, Anne E.
    Monda, Keri L.
    Croteau-Chonka, Damien C.
    Day, Felix R.
    Esko, Tonu
    Fall, Tove
    Ferreira, Teresa
    Gentilini, Davide
    Jackson, Anne U.
    Luan, Jian'an
    Randall, Joshua C.
    Vedantam, Sailaja
    Willer, Cristen J.
    Winkler, Thomas W.
    Wood, Andrew R.
    Workalemahu, Tsegaselassie
    Hu, Yi-Juan
    Lee, Sang Hong
    Liang, Liming
    Lin, Dan-Yu
    Min, Josine L.
    Neale, Benjamin M.
    Thorleifsson, Gudmar
    Yang, Jian
    Albrecht, Eva
    Amin, Najaf
    Bragg-Gresham, Jennifer L.
    Cadby, Gemma
    den Heijer, Martin
    Eklund, Niina
    Fischer, Krista
    Goel, Anuj
    Hottenga, Jouke-Jan
    Huffman, Jennifer E.
    Jarick, Ivonne
    Johansson, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Johnson, Toby
    Kanoni, Stavroula
    Kleber, Marcus E.
    Koenig, Inke R.
    Kristiansson, Kati
    Kutalik, Zoltn
    Lamina, Claudia
    Lecoeur, Cecile
    Li, Guo
    Mangino, Massimo
    McArdle, Wendy L.
    Medina-Gomez, Carolina
    Mueller-Nurasyid, Martina
    Ngwa, Julius S.
    Nolte, Ilja M.
    Paternoster, Lavinia
    Pechlivanis, Sonali
    Perola, Markus
    Peters, Marjolein J.
    Preuss, Michael
    Rose, Lynda M.
    Shi, Jianxin
    Shungin, Dmitry
    Smith, Albert Vernon
    Strawbridge, Rona J.
    Surakka, Ida
    Teumer, Alexander
    Trip, Mieke D.
    Tyrer, Jonathan
    Van Vliet-Ostaptchouk, Jana V.
    Vandenput, Liesbeth
    Waite, Lindsay L.
    Zhao, Jing Hua
    Absher, Devin
    Asselbergs, Folkert W.
    Atalay, Mustafa
    Attwood, Antony P.
    Balmforth, Anthony J.
    Basart, Hanneke
    Beilby, John
    Bonnycastle, Lori L.
    Brambilla, Paolo
    Bruinenberg, Marcel
    Campbell, Harry
    Chasman, Daniel I.
    Chines, Peter S.
    Collins, Francis S.
    Connell, John M.
    Cookson, William O.
    de Faire, Ulf
    de Vegt, Femmie
    Dei, Mariano
    Dimitriou, Maria
    Edkins, Sarah
    Estrada, Karol
    Evans, David M.
    Farrall, Martin
    Ferrario, Marco M.
    Ferrieres, Jean
    Franke, Lude
    Frau, Francesca
    Gejman, Pablo V.
    Grallert, Harald
    Groenberg, Henrik
    Gudnason, Vilmundur
    Hall, Alistair S.
    Hall, Per
    Hartikainen, Anna-Liisa
    Hayward, Caroline
    Heard-Costa, Nancy L.
    Heath, Andrew C.
    Hebebrand, Johannes
    Homuth, Georg
    Hu, Frank B.
    Hunt, Sarah E.
    Hyppoenen, Elina
    Iribarren, Carlos
    Jacobs, Kevin B.
    Jansson, John-Olov
    Jula, Antti
    Kahonen, Mika
    Kathiresan, Sekar
    Kee, Frank
    Khaw, Kay-Tee
    Kivimaki, Mika
    Koenig, Wolfgang
    Kraja, Aldi T.
    Kumari, Meena
    Kuulasmaa, Kari
    Kuusisto, Johanna
    Laitinen, Jaana H.
    Lakka, Timo A.
    Langenberg, Claudia
    Launer, Lenore J.
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Lindstrom, Jaana
    Liu, Jianjun
    Liuzzi, Antonio
    Lokki, Marja-Liisa
    Lorentzon, Mattias
    Madden, Pamela A.
    Magnusson, Patrik K.
    Manunta, Paolo
    Marek, Diana
    Maerz, Winfried
    Leach, Irene Mateo
    McKnight, Barbara
    Medland, Sarah E.
    Mihailov, Evelin
    Milani, Lili
    Montgomery, Grant W.
    Mooser, Vincent
    Muehleisen, Thomas W.
    Munroe, Patricia B.
    Musk, Arthur W.
    Narisu, Narisu
    Navis, Gerjan
    Nicholson, George
    Nohr, Ellen A.
    Ong, Ken K.
    Oostra, Ben A.
    Palmer, Colin N. A.
    Palotie, Aarno
    Peden, John F.
    Pedersen, Nancy
    Peters, Annette
    Polasek, Ozren
    Pouta, Anneli
    Pramstaller, Peter P.
    Prokopenko, Inga
    Puetter, Carolin
    Radhakrishnan, Aparna
    Raitakari, Olli
    Rendon, Augusto
    Rivadeneira, Fernando
    Rudan, Igor
    Saaristo, Timo E.
    Sambrook, Jennifer G.
    Sanders, Alan R.
    Sanna, Serena
    Saramies, Jouko
    Schipf, Sabine
    Schreiber, Stefan
    Schunkert, Heribert
    Shin, So-Youn
    Signorini, Stefano
    Sinisalo, Juha
    Skrobek, Boris
    Soranzo, Nicole
    Stancakova, Alena
    Stark, Klaus
    Stephens, Jonathan C.
    Stirrups, Kathleen
    Stolk, Ronald P.
    Stumvoll, Michael
    Swift, Amy J.
    Theodoraki, Eirini V.
    Thorand, Barbara
    Tregouet, David-Alexandre
    Tremoli, Elena
    Van der Klauw, Melanie M.
    van Meurs, Joyce B. J.
    Vermeulen, Sita H.
    Viikari, Jorma
    Virtamo, Jarmo
    Vitart, Veronique
    Waeber, Gerard
    Wang, Zhaoming
    Widen, Elisabeth
    Wild, Sarah H.
    Willemsen, Gonneke
    Winkelmann, Bernhard R.
    Witteman, Jacqueline C. M.
    Wolffenbuttel, Bruce H. R.
    Wong, Andrew
    Wright, Alan F.
    Zillikens, M. Carola
    Amouyel, Philippe
    Boehm, Bernhard O.
    Boerwinkle, Eric
    Boomsma, Dorret I.
    Caulfield, Mark J.
    Chanock, Stephen J.
    Cupples, L. Adrienne
    Cusi, Daniele
    Dedoussis, George V.
    Erdmann, Jeanette
    Eriksson, Johan G.
    Franks, Paul W.
    Froguel, Philippe
    Gieger, Christian
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics.
    Hamsten, Anders
    Harris, Tamara B.
    Hengstenberg, Christian
    Hicks, Andrew A.
    Hingorani, Aroon
    Hinney, Anke
    Hofman, Albert
    Hovingh, Kees G.
    Hveem, Kristian
    Illig, Thomas
    Jarvelin, Marjo-Riitta
    Joeckel, Karl-Heinz
    Keinanen-Kiukaanniemi, Sirkka M.
    Kiemeney, Lambertus A.
    Kuh, Diana
    Laakso, Markku
    Lehtimaki, Terho
    Levinson, Douglas F.
    Martin, Nicholas G.
    Metspalu, Andres
    Morris, Andrew D.
    Nieminen, Markku S.
    Njolstad, Inger
    Ohlsson, Claes
    Oldehinkel, Albertine J.
    Ouwehand, Willem H.
    Palmer, Lyle J.
    Penninx, Brenda
    Power, Chris
    Province, Michael A.
    Psaty, Bruce M.
    Qi, Lu
    Rauramaa, Rainer
    Ridker, Paul M.
    Ripatti, Samuli
    Salomaa, Veikko
    Samani, Nilesh J.
    Snieder, Harold
    Sorensen, Thorkild I. A.
    Spector, Timothy D.
    Stefansson, Kari
    Tonjes, Anke
    Tuomilehto, Jaakko
    Uitterlinden, Andre G.
    Uusitupa, Matti
    van der Harst, Pim
    Vollenweider, Peter
    Wallaschofski, Henri
    Wareham, Nicholas J.
    Watkins, Hugh
    Wichmann, H-Erich
    Wilson, James F.
    Abecasis, Goncalo R.
    Assimes, Themistocles L.
    Barroso, Ines
    Boehnke, Michael
    Borecki, Ingrid B.
    Deloukas, Panos
    Fox, Caroline S.
    Frayling, Timothy
    Groop, Leif C.
    Haritunian, Talin
    Heid, Iris M.
    Hunter, David
    Kaplan, Robert C.
    Karpe, Fredrik
    Moffatt, Miriam F.
    Mohlke, Karen L.
    O'Connell, Jeffrey R.
    Pawitan, Yudi
    Schadt, Eric E.
    Schlessinger, David
    Steinthorsdottir, Valgerdur
    Strachan, David P.
    Thorsteinsdottir, Unnur
    van Duijn, Cornelia M.
    Visscher, Peter M.
    Di Blasio, Anna Maria
    Hirschhorn, Joel N.
    Lindgren, Cecilia M.
    Morris, Andrew P.
    Meyre, David
    Scherag, Andr
    McCarthy, Mark I.
    Speliotes, Elizabeth K.
    North, Kari E.
    Loos, Ruth J. F.
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 5, p. 501-U69Article in journal (Refereed)
    Abstract [en]

    Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.

  • 11. Berndt, Sonja I.
    et al.
    Gustafsson, Stefan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Maegi, Reedik
    Ganna, Andrea
    Wheeler, Eleanor
    Feitosa, Mary F.
    Justice, Anne E.
    Monda, Keri L.
    Croteau-Chonka, Damien C.
    Day, Felix R.
    Esko, Tonu
    Fall, Tove
    Ferreira, Teresa
    Gentilini, Davide
    Jackson, Anne U.
    Luan, Jian'an
    Randall, Joshua C.
    Vedantam, Sailaja
    Willer, Cristen J.
    Winkler, Thomas W.
    Wood, Andrew R.
    Workalemahu, Tsegaselassie
    Hu, Yi-Juan
    Lee, Sang Hong
    Liang, Liming
    Lin, Dan-Yu
    Min, Josine L.
    Neale, Benjamin M.
    Thorleifsson, Gudmar
    Yang, Jian
    Albrecht, Eva
    Amin, Najaf
    Bragg-Gresham, Jennifer L.
    Cadby, Gemma
    den Heijer, Martin
    Eklund, Niina
    Fischer, Krista
    Goel, Anuj
    Hottenga, Jouke-Jan
    Huffman, Jennifer E.
    Jarick, Ivonne
    Johansson, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Johnson, Toby
    Kanoni, Stavroula
    Kleber, Marcus E.
    Koenig, Inke R.
    Kristiansson, Kati
    Kutalik, Zoltn
    Lamina, Claudia
    Lecoeur, Cecile
    Li, Guo
    Mangino, Massimo
    McArdle, Wendy L.
    Medina-Gomez, Carolina
    Mueller-Nurasyid, Martina
    Ngwa, Julius S.
    Nolte, Ilja M.
    Paternoster, Lavinia
    Pechlivanis, Sonali
    Perola, Markus
    Peters, Marjolein J.
    Preuss, Michael
    Rose, Lynda M.
    Shi, Jianxin
    Shungin, Dmitry
    Smith, Albert Vernon
    Strawbridge, Rona J.
    Surakka, Ida
    Teumer, Alexander
    Trip, Mieke D.
    Tyrer, Jonathan
    Van Vliet-Ostaptchouk, Jana V.
    Vandenput, Liesbeth
    Waite, Lindsay L.
    Zhao, Jing Hua
    Absher, Devin
    Asselbergs, Folkert W.
    Atalay, Mustafa
    Attwood, Antony P.
    Balmforth, Anthony J.
    Basart, Hanneke
    Beilby, John
    Bonnycastle, Lori L.
    Brambilla, Paolo
    Bruinenberg, Marcel
    Campbell, Harry
    Chasman, Daniel I.
    Chines, Peter S.
    Collins, Francis S.
    Connell, John M.
    Cookson, William O.
    de Faire, Ulf
    de Vegt, Femmie
    Dei, Mariano
    Dimitriou, Maria
    Edkins, Sarah
    Estrada, Karol
    Evans, David M.
    Farrall, Martin
    Ferrario, Marco M.
    Ferrieres, Jean
    Franke, Lude
    Frau, Francesca
    Gejman, Pablo V.
    Grallert, Harald
    Groenberg, Henrik
    Gudnason, Vilmundur
    Hall, Alistair S.
    Hall, Per
    Hartikainen, Anna-Liisa
    Hayward, Caroline
    Heard-Costa, Nancy L.
    Heath, Andrew C.
    Hebebrand, Johannes
    Homuth, Georg
    Hu, Frank B.
    Hunt, Sarah E.
    Hyppoenen, Elina
    Iribarren, Carlos
    Jacobs, Kevin B.
    Jansson, John-Olov
    Jula, Antti
    Kahonen, Mika
    Kathiresan, Sekar
    Kee, Frank
    Khaw, Kay-Tee
    Kivimaki, Mika
    Koenig, Wolfgang
    Kraja, Aldi T.
    Kumari, Meena
    Kuulasmaa, Kari
    Kuusisto, Johanna
    Laitinen, Jaana H.
    Lakka, Timo A.
    Langenberg, Claudia
    Launer, Lenore J.
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Lindstrom, Jaana
    Liu, Jianjun
    Liuzzi, Antonio
    Lokki, Marja-Liisa
    Lorentzon, Mattias
    Madden, Pamela A.
    Magnusson, Patrik K.
    Manunta, Paolo
    Marek, Diana
    Maerz, Winfried
    Leach, Irene Mateo
    McKnight, Barbara
    Medland, Sarah E.
    Mihailov, Evelin
    Milani, Lili
    Montgomery, Grant W.
    Mooser, Vincent
    Muehleisen, Thomas W.
    Munroe, Patricia B.
    Musk, Arthur W.
    Narisu, Narisu
    Navis, Gerjan
    Nicholson, George
    Nohr, Ellen A.
    Ong, Ken K.
    Oostra, Ben A.
    Palmer, Colin N. A.
    Palotie, Aarno
    Peden, John F.
    Pedersen, Nancy
    Peters, Annette
    Polasek, Ozren
    Pouta, Anneli
    Pramstaller, Peter P.
    Prokopenko, Inga
    Puetter, Carolin
    Radhakrishnan, Aparna
    Raitakari, Olli
    Rendon, Augusto
    Rivadeneira, Fernando
    Rudan, Igor
    Saaristo, Timo E.
    Sambrook, Jennifer G.
    Sanders, Alan R.
    Sanna, Serena
    Saramies, Jouko
    Schipf, Sabine
    Schreiber, Stefan
    Schunkert, Heribert
    Shin, So-Youn
    Signorini, Stefano
    Sinisalo, Juha
    Skrobek, Boris
    Soranzo, Nicole
    Stancakova, Alena
    Stark, Klaus
    Stephens, Jonathan C.
    Stirrups, Kathleen
    Stolk, Ronald P.
    Stumvoll, Michael
    Swift, Amy J.
    Theodoraki, Eirini V.
    Thorand, Barbara
    Tregouet, David-Alexandre
    Tremoli, Elena
    Van der Klauw, Melanie M.
    van Meurs, Joyce B. J.
    Vermeulen, Sita H.
    Viikari, Jorma
    Virtamo, Jarmo
    Vitart, Veronique
    Waeber, Gerard
    Wang, Zhaoming
    Widen, Elisabeth
    Wild, Sarah H.
    Willemsen, Gonneke
    Winkelmann, Bernhard R.
    Witteman, Jacqueline C. M.
    Wolffenbuttel, Bruce H. R.
    Wong, Andrew
    Wright, Alan F.
    Zillikens, M. Carola
    Amouyel, Philippe
    Boehm, Bernhard O.
    Boerwinkle, Eric
    Boomsma, Dorret I.
    Caulfield, Mark J.
    Chanock, Stephen J.
    Cupples, L. Adrienne
    Cusi, Daniele
    Dedoussis, George V.
    Erdmann, Jeanette
    Eriksson, Johan G.
    Franks, Paul W.
    Froguel, Philippe
    Gieger, Christian
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics.
    Hamsten, Anders
    Harris, Tamara B.
    Hengstenberg, Christian
    Hicks, Andrew A.
    Hingorani, Aroon
    Hinney, Anke
    Hofman, Albert
    Hovingh, Kees G.
    Hveem, Kristian
    Illig, Thomas
    Jarvelin, Marjo-Riitta
    Joeckel, Karl-Heinz
    Keinanen-Kiukaanniemi, Sirkka M.
    Kiemeney, Lambertus A.
    Kuh, Diana
    Laakso, Markku
    Lehtimaki, Terho
    Levinson, Douglas F.
    Martin, Nicholas G.
    Metspalu, Andres
    Morris, Andrew D.
    Nieminen, Markku S.
    Njolstad, Inger
    Ohlsson, Claes
    Oldehinkel, Albertine J.
    Ouwehand, Willem H.
    Palmer, Lyle J.
    Penninx, Brenda
    Power, Chris
    Province, Michael A.
    Psaty, Bruce M.
    Qi, Lu
    Rauramaa, Rainer
    Ridker, Paul M.
    Ripatti, Samuli
    Salomaa, Veikko
    Samani, Nilesh J.
    Snieder, Harold
    Sorensen, Thorkild I. A.
    Spector, Timothy D.
    Stefansson, Kari
    Tonjes, Anke
    Tuomilehto, Jaakko
    Uitterlinden, Andre G.
    Uusitupa, Matti
    van der Harst, Pim
    Vollenweider, Peter
    Wallaschofski, Henri
    Wareham, Nicholas J.
    Watkins, Hugh
    Wichmann, H-Erich
    Wilson, James F.
    Abecasis, Goncalo R.
    Assimes, Themistocles L.
    Barroso, Ines
    Boehnke, Michael
    Borecki, Ingrid B.
    Deloukas, Panos
    Fox, Caroline S.
    Frayling, Timothy
    Groop, Leif C.
    Haritunian, Talin
    Heid, Iris M.
    Hunter, David
    Kaplan, Robert C.
    Karpe, Fredrik
    Moffatt, Miriam F.
    Mohlke, Karen L.
    O'Connell, Jeffrey R.
    Pawitan, Yudi
    Schadt, Eric E.
    Schlessinger, David
    Steinthorsdottir, Valgerdur
    Strachan, David P.
    Thorsteinsdottir, Unnur
    van Duijn, Cornelia M.
    Visscher, Peter M.
    Di Blasio, Anna Maria
    Hirschhorn, Joel N.
    Lindgren, Cecilia M.
    Morris, Andrew P.
    Meyre, David
    Scherag, Andr
    McCarthy, Mark I.
    Speliotes, Elizabeth K.
    North, Kari E.
    Loos, Ruth J. F.
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 5, p. 501-U69Article in journal (Refereed)
    Abstract [en]

    Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.

  • 12. Berndt, Sonja I.
    et al.
    Skibola, Christine F.
    Joseph, Vijai
    Camp, Nicola J.
    Nieters, Alexandra
    Wang, Zhaoming
    Cozen, Wendy
    Monnereau, Alain
    Wang, Sophia S.
    Kelly, Rachel S.
    Lan, Qing
    Teras, Lauren R.
    Chatterjee, Nilanjan
    Chung, Charles C.
    Yeager, Meredith
    Brooks-Wilson, Angela R.
    Hartge, Patricia
    Purdue, Mark P.
    Birmann, Brenda M.
    Armstrong, Bruce K.
    Cocco, Pierluigi
    Zhang, Yawei
    Severi, Gianluca
    Zeleniuch-Jacquotte, Anne
    Lawrence, Charles
    Burdette, Laurie
    Yuenger, Jeffrey
    Hutchinson, Amy
    Jacobs, Kevin B.
    Call, Timothy G.
    Shanafelt, Tait D.
    Novak, Anne J.
    Kay, Neil E.
    Liebow, Mark
    Wang, Alice H.
    Smedby, Karin E.
    Adami, Hans-Olov
    Melbye, Mads
    Glimelius, Bengt
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Oncology.
    Chang, Ellen T.
    Glenn, Martha
    Curtin, Karen
    Cannon-Albright, Lisa A.
    Jones, Brandt
    Diver, W. Ryan
    Link, Brian K.
    Weiner, George J.
    Conde, Lucia
    Bracci, Paige M.
    Riby, Jacques
    Holly, Elizabeth A.
    Smith, Martyn T.
    Jackson, Rebecca D.
    Tinker, Lesley F.
    Benavente, Yolanda
    Becker, Nikolaus
    Boffetta, Paolo
    Brennan, Paul
    Foretova, Lenka
    Maynadie, Marc
    McKay, James
    Staines, Anthony
    Rabe, Kari G.
    Achenbach, Sara J.
    Vachon, Celine M.
    Goldin, Lynn R.
    Strom, Sara S.
    Lanasa, Mark C.
    Spector, Logan G.
    Leis, Jose F.
    Cunningham, Julie M.
    Weinberg, J. Brice
    Morrison, Vicki A.
    Caporaso, Neil E.
    Norman, Aaron D.
    Linet, Martha S.
    De Roos, Anneclaire J.
    Morton, Lindsay M.
    Severson, Richard K.
    Riboli, Elio
    Vineis, Paolo
    Kaaks, Rudolph
    Trichopoulos, Dimitrios
    Masala, Giovanna
    Weiderpass, Elisabete
    Chirlaque, Mara-Dolores
    Vermeulen, Roel C. H.
    Travis, Ruth C.
    Giles, Graham G.
    Albanes, Demetrius
    Virtamo, Jarmo
    Weinstein, Stephanie
    Clavel, Jacqueline
    Zheng, Tongzhang
    Holford, Theodore R.
    Offit, Kenneth
    Zelenetz, Andrew
    Klein, Robert J.
    Spinelli, John J.
    Bertrand, Kimberly A.
    Laden, Francine
    Giovannucci, Edward
    Kraft, Peter
    Kricker, Anne
    Turner, Jenny
    Vajdic, Claire M.
    Ennas, Maria Grazia
    Ferri, Giovanni M.
    Miligi, Lucia
    Liang, Liming
    Sampson, Joshua
    Crouch, Simon
    Park, Ju-Hyun
    North, Kari E.
    Cox, Angela
    Snowden, John A.
    Wright, Josh
    Carracedo, Angel
    Lopez-Otin, Carlos
    Bea, Silvia
    Salaverria, Itziar
    Martin-Garcia, David
    Campo, Elias
    Fraumeni, Joseph F., Jr.
    de Sanjose, Silvia
    Hjalgrim, Henrik
    Cerhan, James R.
    Chanock, Stephen J.
    Rothman, Nathaniel
    Slager, Susan L.
    Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 8, p. 868-U202Article in journal (Refereed)
    Abstract [en]

    Genome-wide association studies (GWAS) have previously identified 13 loci associated with risk of chronic lymphocytic leukemia or small lymphocytic lymphoma (CLL). To identify additional CLL susceptibility loci, we conducted the largest meta-analysis for CLL thus far, including four GWAS with a total of 3,100 individuals with CLL (cases) and 7,667 controls. In the meta-analysis, we identified ten independent associated SNPs in nine new loci at 10q23.31 (ACTA2 or FAS (ACTA2/FAS), P = 1.22 x 10(-14)), 18q21.33 (BCL2, P = 7.76 x 10(-11)), 11p15.5 (C11orf21, P = 2.15 x 10(-10)), 4q25 (LEF1, P = 4.24 x 10(-10)), 2q33.1 (CASP10 or CASP8 (CASP10/CASP8), P = 2.50 x 10(-9)), 9p21.3 (CDKN2B-AS1, P = 1.27 x 10(-8)), 18q21.32 (PMAIP1, P = 2.51 x 10(-8)), 15q15.1 (BMF, P = 2.71 x 10(-10)) and 2p22.2 (QPCT, P = 1.68 x 10(-8)), as well as an independent signal at an established locus (2q13, ACOXL, P = 2.08 x 10(-18)). We also found evidence for two additional promising loci below genome-wide significance at 8q22.3 (ODF1, P = 5.40 x 10(-8)) and 5p15.33 (TERT, P = 1.92 x 10(-7)). Although further studies are required, the proximity of several of these loci to genes involved in apoptosis suggests a plausible underlying biological mechanism.

  • 13.
    Betsholtz, Christer
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Vascular Biology.
    Lipid transport and human brain development2015In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 47, no 7, p. 699-701Article in journal (Other academic)
    Abstract [en]

    How the human brain rapidly builds up its lipid content during brain growth and maintains its lipids in adulthood has remained elusive. Two new studies show that inactivating mutations in MFSD2A, known to be expressed specifically at the blood-brain barrier, lead to microcephaly, thereby offering a simple and surprising solution to an old enigma.

  • 14.
    Braasch, Ingo
    et al.
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA.;Michigan State Univ, Dept Integrat Biol, E Lansing, MI 48824 USA..
    Gehrke, Andrew R.
    Univ Chicago, Dept Organismal Biol & Anat, 1025 E 57Th St, Chicago, IL 60637 USA..
    Smith, Jeramiah J.
    Univ Kentucky, Dept Biol, Lexington, KY USA..
    Kawasaki, Kazuhiko
    Penn State Univ, Dept Anthropol, University Pk, PA 16802 USA..
    Manousaki, Tereza
    Hellen Ctr Marine Res, Inst Marine Biol Biotechnol & Aquaculture, Iraklion, Greece..
    Pasquier, Jeremy
    INRA, LPGP, UR1037, Campus Beaulieu, F-35042 Rennes, France..
    Amores, Angel
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    Desvignes, Thomas
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    Batzel, Peter
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    Catchen, Julian
    Univ Illinois, Dept Anim Biol, Urbana, IL 61801 USA..
    Berlin, Aaron M.
    MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA..
    Campbell, Michael S.
    Univ Utah, Eccles Inst Human Genet, Salt Lake City, UT USA.;Cold Spring Harbor Lab, POB 100, Cold Spring Harbor, NY 11724 USA..
    Barrell, Daniel
    Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England.;European Bioinformat Inst, European Mol Biol Lab, Wellcome Trust Genome Campus, Hinxton, England..
    Martin, Kyle J.
    Univ Oxford, Dept Zool, Oxford, England.;Univ Sheffield, Dept Anim & Plant Sci, Sheffield S10 2TN, S Yorkshire, England..
    Mulley, John F.
    Bangor Univ, Sch Biol Sci, Bangor, Gwynedd, Wales..
    Ravi, Vydianathan
    ASTAR, Inst Mol & Cell Biol, Comparat Genom Lab, Singapore, Singapore..
    Lee, Alison P.
    ASTAR, Inst Mol & Cell Biol, Comparat Genom Lab, Singapore, Singapore..
    Nakamura, Tetsuya
    Univ Chicago, Dept Organismal Biol & Anat, 1025 E 57Th St, Chicago, IL 60637 USA..
    Chalopin, Domitille
    Ecole Normale Super Lyon, Inst Genom Fonct Lyon, F-69364 Lyon, France.;Univ Georgia, Dept Genet, Athens, GA 30602 USA..
    Fan, Shaohua
    Univ Konstanz, Dept Biol, Constance, Germany.;Univ Penn, Dept Genet, Philadelphia, PA 19104 USA..
    Wcisel, Dustin
    N Carolina State Univ, Dept Mol Biomed Sci, Raleigh, NC 27695 USA.;N Carolina State Univ, Ctr Comparat Med & Translat Res, Raleigh, NC 27695 USA..
    Canestro, Cristian
    Univ Barcelona, Dept Genet, Barcelona, Spain.;Univ Barcelona, Inst Recerca Biodiversitat, Barcelona, Spain..
    Sydes, Jason
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    Beaudry, Felix E. G.
    Univ Victoria, Dept Biol, POB 1700, Victoria, BC V8W 2Y2, Canada..
    Sun, Yi
    Soochow Univ, Ctr Circadian Clocks, Suzhou, Peoples R China.;Soochow Univ, Coll Med, Sch Biol & Basic Med Sci, Suzhou, Peoples R China..
    Hertel, Jana
    Univ Leipzig, Dept Comp Sci, Bioinformat Grp, D-04109 Leipzig, Germany.;UFZ Helmholtz Ctr Environm Res, Young Investigators Grp Bioinformat & Transcript, Leipzig, Germany..
    Beam, Michael J.
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    Fasold, Mario
    Univ Leipzig, Dept Comp Sci, Bioinformat Grp, D-04109 Leipzig, Germany.;ecSeq Bioinformat, Leipzig, Germany..
    Ishiyama, Mikio
    Nippon Dent Univ Coll Niigata, Dept Dent Hyg, Niigata, Japan..
    Johnson, Jeremy
    MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA..
    Kehr, Steffi
    Univ Leipzig, Dept Comp Sci, Bioinformat Grp, D-04109 Leipzig, Germany..
    Lara, Marcia
    MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA..
    Letaw, John H.
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    Litman, Gary W.
    Univ S Florida, Morsani Coll Med, Dept Pediat, St Petersburg, FL 33701 USA..
    Litman, Ronda T.
    Univ S Florida, Morsani Coll Med, Dept Pediat, St Petersburg, FL 33701 USA..
    Mikami, Masato
    Nippon Dent Univ, Sch Life Dent Niigata, Dept Microbiol, Niigata, Japan..
    Ota, Tatsuya
    SOKENDAI Grad Univ Adv Studies, Dept Evolutionary Studies Biosyst, Hayama, Japan..
    Saha, Nil Ratan
    Benaroya Res Inst, Mol Genet Program, Seattle, WA USA..
    Williams, Louise
    MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA..
    Stadler, Peter F.
    Univ Leipzig, Dept Comp Sci, Bioinformat Grp, D-04109 Leipzig, Germany..
    Wang, Han
    Soochow Univ, Ctr Circadian Clocks, Suzhou, Peoples R China.;Soochow Univ, Coll Med, Sch Biol & Basic Med Sci, Suzhou, Peoples R China..
    Taylor, John S.
    Univ Victoria, Dept Biol, POB 1700, Victoria, BC V8W 2Y2, Canada..
    Fontenot, Quenton
    Nicholls State Univ, Dept Biol Sci, Thibodaux, LA 70310 USA..
    Ferrara, Allyse
    Nicholls State Univ, Dept Biol Sci, Thibodaux, LA 70310 USA..
    Searle, Stephen M. J.
    Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England..
    Aken, Bronwen
    Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England.;European Bioinformat Inst, European Mol Biol Lab, Wellcome Trust Genome Campus, Hinxton, England..
    Yandell, Mark
    Univ Utah, Eccles Inst Human Genet, Salt Lake City, UT USA..
    Schneider, Igor
    Fed Univ Para, Inst Ciencias Biol, BR-66059 Belem, Para, Brazil..
    Yoder, Jeffrey A.
    N Carolina State Univ, Dept Mol Biomed Sci, Raleigh, NC 27695 USA.;N Carolina State Univ, Ctr Comparat Med & Translat Res, Raleigh, NC 27695 USA..
    Volff, Jean-Nicolas
    Ecole Normale Super Lyon, Inst Genom Fonct Lyon, F-69364 Lyon, France..
    Meyer, Axel
    Univ Konstanz, Dept Biol, Constance, Germany.;Univ Konstanz, Int Max Planck Res Sch Organismal Biol, Constance, Germany..
    Amemiya, Chris T.
    Benaroya Res Inst, Mol Genet Program, Seattle, WA USA..
    Venkatesh, Byrappa
    ASTAR, Inst Mol & Cell Biol, Comparat Genom Lab, Singapore, Singapore..
    Holland, Peter W. H.
    Univ Oxford, Dept Zool, Oxford, England..
    Guiguen, Yann
    INRA, LPGP, UR1037, Campus Beaulieu, F-35042 Rennes, France..
    Bobe, Julien
    INRA, LPGP, UR1037, Campus Beaulieu, F-35042 Rennes, France..
    Shubin, Neil H.
    Univ Chicago, Dept Organismal Biol & Anat, 1025 E 57Th St, Chicago, IL 60637 USA..
    Di Palma, Federica
    MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA.;Genome Anal Ctr, Vertebrate & Hlth Genom, Norwich, Norfolk, England..
    Alfoeldi, Jessica
    MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA..
    Lindblad-Toh, Kerstin
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab. MIT, Broad Inst, 77 Massachusetts Ave, Cambridge, MA 02139 USA.;Harvard, Cambridge, MA USA.;Uppsala Univ, Dept Med Biochem & Microbiol, Sci Life Lab, Uppsala, Sweden..
    Postlethwait, John H.
    Univ Oregon, Inst Neurosci, Eugene, OR 97403 USA..
    The spotted gar genome illuminates vertebrate evolution and facilitates human-teleost comparisons2016In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 4, p. 427-437Article in journal (Refereed)
    Abstract [en]

    To connect human biology to fish biomedical models, we sequenced the genome of spotted gar (Lepisosteus oculatus), whose lineage diverged from teleosts before teleost genome duplication (TGD). The slowly evolving gar genome has conserved in content and size many entire chromosomes from bony vertebrate ancestors. Gar bridges teleosts to tetrapods by illuminating the evolution of immunity, mineralization and development (mediated, for example, by Hox, ParaHox and microRNA genes). Numerous conserved noncoding elements (CNEs; often cis regulatory) undetectable in direct human-teleost comparisons become apparent using gar: functional studies uncovered conserved roles for such cryptic CNEs, facilitating annotation of sequences identified in human genome-wide association studies. Transcriptomic analyses showed that the sums of expression domains and expression levels for duplicated teleost genes often approximate the patterns and levels of expression for gar genes, consistent with subfunctionalization. The gar genome provides a resource for understanding evolution after genome duplication, the origin of vertebrate genomes and the function of human regulatory sequences.

  • 15. C. ARDIoGRAMplusC4D, Consortium
    et al.
    Wallentin, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiology. Uppsala Clinical Research Center.
    Large-scale association analysis identifies new risk loci for coronary artery disease2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 1, p. 25-33Article in journal (Refereed)
    Abstract [en]

    Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r(2) < 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes (loci at 10% FDR) generated 5 interaction networks comprising 85% of these putative genes involved in CAD. The four most significant pathways mapping to these networks are linked to lipid metabolism and inflammation, underscoring the causal role of these activities in the genetic etiology of CAD. Our study provides insights into the genetic basis of CAD and identifies key biological pathways.

  • 16. Cerhan, James R.
    et al.
    Berndt, Sonja I.
    Vijai, Joseph
    Ghesquieres, Herve
    McKay, James
    Wang, Sophia S.
    Wang, Zhaoming
    Yeager, Meredith
    Conde, Lucia
    de Bakker, Paul I. W.
    Nieters, Alexandra
    Cox, David
    Burdett, Laurie
    Monnereau, Alain
    Flowers, Christopher R.
    De Roos, Anneclaire J.
    Brooks-Wilson, Angela R.
    Lan, Qing
    Severi, Gianluca
    Melbye, Mads
    Gu, Jian
    Jackson, Rebecca D.
    Kane, Eleanor
    Teras, Lauren R.
    Purdue, Mark P.
    Vajdic, Claire M.
    Spinelli, John J.
    Giles, Graham G.
    Albanes, Demetrius
    Kelly, Rachel S.
    Zucca, Mariagrazia
    Bertrand, Kimberly A.
    Zeleniuch-Jacquotte, Anne
    Lawrence, Charles
    Hutchinson, Amy
    Zhi, Degui
    Habermann, Thomas M.
    Link, Brian K.
    Novak, Anne J.
    Dogan, Ahmet
    Asmann, Yan W.
    Liebow, Mark
    Thompson, Carrie A.
    Ansell, Stephen M.
    Witzig, Thomas E.
    Weiner, George J.
    Veron, Amelie S.
    Zelenika, Diana
    Tilly, Herve
    Haioun, Corinne
    Molina, Thierry Jo
    Hjalgrim, Henrik
    Glimelius, Bengt
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Radiology, Oncology and Radiation Science, Oncology.
    Adami, Hans-Olov
    Bracci, Paige M.
    Riby, Jacques
    Smith, Martyn T.
    Holly, Elizabeth A.
    Cozen, Wendy
    Hartge, Patricia
    Morton, Lindsay M.
    Severson, Richard K.
    Tinker, Lesley F.
    North, Kari E.
    Becker, Nikolaus
    Benavente, Yolanda
    Boffetta, Paolo
    Brennan, Paul
    Foretova, Lenka
    Maynadie, Marc
    Staines, Anthony
    Lightfoot, Tracy
    Crouch, Simon
    Smith, Alex
    Roman, Eve
    Diver, W. Ryan
    Offit, Kenneth
    Zelenetz, Andrew
    Klein, Robert J.
    Villano, Danylo J.
    Zheng, Tongzhang
    Zhang, Yawei
    Holford, Theodore R.
    Kricker, Anne
    Turner, Jenny
    Southey, Melissa C.
    Clavel, Jacqueline
    Virtamo, Jarmo
    Weinstein, Stephanie
    Riboli, Elio
    Vineis, Paolo
    Kaaks, Rudolph
    Trichopoulos, Dimitrios
    Vermeulen, Roel C. H.
    Boeing, Heiner
    Tjonneland, Anne
    Angelucci, Emanuele
    Di Lollo, Simonetta
    Rais, Marco
    Birmann, Brenda M.
    Laden, Francine
    Giovannucci, Edward
    Kraft, Peter
    Huang, Jinyan
    Ma, Baoshan
    Ye, Yuanqing
    Chiu, Brian C. H.
    Sampson, Joshua
    Liang, Liming
    Park, Ju-Hyun
    Chung, Charles C.
    Weisenburger, Dennis D.
    Chatterjee, Nilanjan
    Fraumeni, Joseph F., Jr.
    Slager, Susan L.
    Wu, Xifeng
    de Sanjose, Silvia
    Smedby, Karin E.
    Salles, Gilles
    Skibola, Christine F.
    Rothman, Nathaniel
    Chanock, Stephen J.
    Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma2014In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 11, p. 1233-1238Article in journal (Refereed)
    Abstract [en]

    Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 x 10(-21)), rs2523607 at 6p21.33 (HLA-B; P = 2.40 x 10(-10)), rs79480871 at 2p23.3 (NCOA1; P = 4.23 x 10(-8)) and two independent SNPs, rs13255292 and rs4733601, at 8q24.21 (PVT1; P = 9.98 x 10(-13) and 3.63 x 10(-11), respectively). These data provide substantial new evidence for genetic susceptibility to this B cell malignancy and point to pathways involved in immune recognition and immune function in the pathogenesis of DLBCL.

  • 17. Chetaille, Philippe
    et al.
    Preuss, Christoph
    Burkhard, Silja
    Cote, Jean-Marc
    Houde, Christine
    Castilloux, Julie
    Piche, Jessica
    Gosset, Natacha
    Leclerc, Severine
    Wuennemann, Florian
    Thibeault, Maryse
    Gagnon, Carmen
    Galli, Antonella
    Tuck, Elizabeth
    Hickson, Gilles R.
    El Amine, Nour
    Boufaied, Ines
    Lemyre, Emmanuelle
    Barbara, Pascal de Santa
    Faure, Sandrine
    Jonzon, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Pediatrics.
    Cameron, Michel
    Dietz, Harry C.
    Gallo-McFarlane, Elena
    Benson, D. Woodrow
    Moreau, Claudia
    Labuda, Damian
    Zhan, Shing H.
    Shen, Yaoqing
    Jomphe, Michele
    Jones, Steven J. M.
    Bakkers, Jeroen
    Andelfinger, Gregor
    Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm2014In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 46, no 11, p. 1245-1249Article in journal (Refereed)
    Abstract [en]

    The pacemaking activity of specialized tissues in the heart and gut results in lifelong rhythmic contractions. Here we describe a new syndrome characterized by Chronic Atrial and Intestinal Dysrhythmia, termed CAID syndrome, in 16 French Canadians and 1 Swede. We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin complex, causes CAID syndrome. Cultured dermal fibroblasts from affected individuals showed accelerated cell cycle progression, a higher rate of senescence and enhanced activation of TGF-beta signaling. Karyotypes showed the typical railroad appearance of a centromeric cohesion defect. Tissues derived from affected individuals displayed pathological changes in both the enteric nervous system and smooth muscle. Morpholino-induced knockdown of sgol1 in zebrafish recapitulated the abnormalities seen in humans with CAID syndrome. Our findings identify CAID syndrome as a novel generalized dysrhythmia, suggesting a new role for SGOL1 and the cohesin complex in mediating the integrity of human cardiac and gut rhythm.

  • 18. Cho, Yoon Shin
    et al.
    Chen, Chien-Hsiun
    Hu, Cheng
    Long, Jirong
    Ong, Rick Twee Hee
    Sim, Xueling
    Takeuchi, Fumihiko
    Wu, Ying
    Go, Min Jin
    Yamauchi, Toshimasa
    Chang, Yi-Cheng
    Kwak, Soo Heon
    Ma, Ronald C W
    Yamamoto, Ken
    Adair, Linda S
    Aung, Tin
    Cai, Qiuyin
    Chang, Li-Ching
    Chen, Yuan-Tsong
    Gao, Yutang
    Hu, Frank B
    Kim, Hyung-Lae
    Kim, Sangsoo
    Kim, Young Jin
    Lee, Jeannette Jen-Mai
    Lee, Nanette R
    Li, Yun
    Liu, Jian Jun
    Lu, Wei
    Nakamura, Jiro
    Nakashima, Eitaro
    Ng, Daniel Peng-Keat
    Tay, Wan Ting
    Tsai, Fuu-Jen
    Wong, Tien Yin
    Yokota, Mitsuhiro
    Zheng, Wei
    Zhang, Rong
    Wang, Congrong
    So, Wing Yee
    Ohnaka, Keizo
    Ikegami, Hiroshi
    Hara, Kazuo
    Cho, Young Min
    Cho, Nam H
    Chang, Tien-Jyun
    Bao, Yuqian
    Hedman, Åsa K
    Morris, Andrew P
    McCarthy, Mark I
    Takayanagi, Ryoichi
    Park, Kyong Soo
    Jia, Weiping
    Chuang, Lee-Ming
    Chan, Juliana C N
    Maeda, Shiro
    Kadowaki, Takashi
    Lee, Jong-Young
    Wu, Jer-Yuarn
    Teo, Yik Ying
    Tai, E Shyong
    Shu, Xiao Ou
    Mohlke, Karen L
    Kato, Norihiro
    Han, Bok-Ghee
    Seielstad, Mark
    Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.2012In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 44, no 1Article in journal (Refereed)
    Abstract [en]

    We conducted a three-stage genetic study to identify susceptibility loci for type 2 diabetes (T2D) in east Asian populations. We followed our stage 1 meta-analysis of eight T2D genome-wide association studies (6,952 cases with T2D and 11,865 controls) with a stage 2 in silico replication analysis (5,843 cases and 4,574 controls) and a stage 3 de novo replication analysis (12,284 cases and 13,172 controls). The combined analysis identified eight new T2D loci reaching genome-wide significance, which mapped in or near GLIS3, PEPD, FITM2-R3HDML-HNF4A, KCNK16, MAEA, GCC1-PAX4, PSMD6 and ZFAND3. GLIS3, which is involved in pancreatic beta cell development and insulin gene expression, is known for its association with fasting glucose levels. The evidence of an association with T2D for PEPD and HNF4A has been shown in previous studies. KCNK16 may regulate glucose-dependent insulin secretion in the pancreas. These findings, derived from an east Asian population, provide new perspectives on the etiology of T2D.

  • 19.
    Christophersen, Ingrid E.
    et al.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Vestre Viken Hosp Trust, Baerum Hosp, Dept Med Res, Rud, Norway..
    Rienstra, Michiel
    Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Roselli, Carolina
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Genet Epidemiol, Neuherberg, Germany.;Ludwig Maximilians Univ Munchen, Genet Epidemiol, Inst Med Informat Biometry & Epidemiol, Munich, Germany..
    Yin, Xiaoyan
    NHLBI, Framingham, MA USA.;Boston Univ Framingham Heart Study, Framingham, MA USA.;Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA..
    Geelhoed, Bastiaan
    Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Barnard, John
    Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Mol Cardiol, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44106 USA..
    Lin, Honghuang
    NHLBI, Framingham, MA USA.;Boston Univ Framingham Heart Study, Framingham, MA USA.;Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA..
    Arking, Dan E.
    Johns Hopkins Univ Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA..
    Smith, Albert V.
    Iceland Heart Assoc, Kopavogur, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Albert, Christine M.
    Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA.;Brigham & Womens Hosp, Div Cardiovasc Med, 75 Francis St, Boston, MA 02115 USA..
    Chaffin, Mark
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA..
    Tucker, Nathan R.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA..
    Li, Molong
    Klarin, Derek
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA..
    Bihlmeyer, Nathan A.
    Johns Hopkins Univ Sch Med, McKusick Nathans Inst Genet Med, Predoctoral Training Program Human Genet, Baltimore, MD USA..
    Low, Siew-Kee
    RIKEN, Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa, Japan..
    Weeke, Peter E.
    Vanderbilt Univ, Med Ctr, Dept Med, 221 Kirkland Hall, Nashville, TN 37235 USA.;Copenhagen Univ Hosp, Rigshosp, Dept Cardiol, Heart Ctr, Copenhagen, Denmark..
    Mueller-Nurasyid, Martina
    Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Genet Epidemiol, Neuherberg, Germany.;Univ Hosp Munich, Ludwig Maximilians Univ, Dept Med 1, Munich, Germany.;DZHK German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany..
    Smith, J. Gustav
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Lund Univ, Clin Sci, Molecular Epidemiol & Cardiol, Lund, Sweden..
    Brody, Jennifer A.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA..
    Niemeijer, Maartje N.
    Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Doerr, Marcus
    Univ Med Greifswald, Dept Internal Med B, Greifswald, Germany.;DZHK German Ctr Cardiovasc Res, Greifswald, Germany..
    Trompet, Stella
    Leiden Univ, Med Ctr, Dept Cardiol, Leiden, Netherlands..
    Huffman, Jennifer
    Univ Edinburgh, Inst Genet & Mol Med, MRC, Human Genet Unit, Edinburgh, Midlothian, Scotland..
    Gustafsson, Stefan
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology.
    Schurmann, Claudia
    Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA..
    Kleber, Marcus E.
    Heidelberg Univ, Med Fac Mannheim, Dept Med 5, Heidelberg, Germany..
    Lyytikainen, Leo-Pekka
    Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Sch Med, Tampere, Finland..
    Seppala, Ilkka
    Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Sch Med, Tampere, Finland..
    Malik, Rainer
    Klinikum Univ Munchen, Inst Stroke & Dementia Res, Ludwig Maximilians Univ, Munich, Germany..
    Horimoto, Andrea R. V. R.
    Univ Sao Paulo, Heart Inst, Lab Genet & Mol Cardiol, Sao Paulo, Brazil..
    Perez, Marco
    Stanford Univ, Dept Cardiovasc Med, Stanford, CA 94305 USA..
    Sinisalo, Juha
    Univ Helsinki, Cent Hosp, Heart & Lung Ctr HUS, Helsinki, Finland..
    Aeschbacher, Stefanie
    Univ Basel Hosp, Dept Med, Basel, Switzerland.;Cardiovasc Res Inst Basel, Basel, Switzerland..
    Theriault, Sebastien
    Populat Hlth Res Inst, Hamilton, ON, Canada.;McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada..
    Yao, Jie
    Harbor UCLA Med Ctr, LABioMed, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Radmanesh, Farid
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA..
    Weiss, Stefan
    DZHK German Ctr Cardiovasc Res, Greifswald, Germany.;Univ Med, Interfac Inst Genet & Funct Gen, Greifswald, Germany.;Ernst Moritz Arndt Univ Greifswald, Greifswald, Germany..
    Teumer, Alexander
    DZHK German Ctr Cardiovasc Res, Greifswald, Germany.;Univ Med Greifswald, Inst Community Med, Greifswald, Germany..
    Choi, Seung Hoan
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA..
    Weng, Lu-Chen
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA..
    Clauss, Sebastian
    Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Univ Hosp Munich, Ludwig Maximilians Univ, Dept Med 1, Munich, Germany.;DZHK German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany..
    Deo, Rajat
    Univ Penn, Perelman Sch Med, Dept Med, Div Cardiovasc Med, Philadelphia, PA 19104 USA..
    Rader, Daniel J.
    Univ Penn, Perelman Sch Med, Dept Med, Div Cardiovasc Med, Philadelphia, PA 19104 USA..
    Shah, Svati H.
    Duke Univ, Sch Med, Dept Med, Div Cardiol, Durham, NC 27706 USA..
    Sun, Albert
    Duke Univ, Sch Med, Dept Med, Div Cardiol, Durham, NC 27706 USA..
    Hopewell, Jemma C.
    Univ Oxford, CTSU Nuffield Dept Populat Hlth, Oxford, England..
    Debette, Stephanie
    Bordeaux Populat Hlth Ctr, INSERM U1219, Bordeaux, France.;Univ Bordeaux, Bordeaux, France.;Bordeaux Univ Hosp, Dept Neurol, Bordeaux, France.;Boston Univ, Sch Med, Dept Neurol, Boston, MA 02215 USA..
    Chauhan, Ganesh
    Bordeaux Populat Hlth Ctr, INSERM U1219, Bordeaux, France.;Univ Bordeaux, Bordeaux, France..
    Yang, Qiong
    Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA..
    Worrall, Bradford B.
    Univ Virginia Hlth Syst, Dept Neurol, Charlottesville, VA USA.;Univ Virginia Hlth Syst, Dept Publ Hlth Sci, Charlottesville, VA USA..
    Pare, Guillaume
    Populat Hlth Res Inst, Hamilton, ON, Canada.;McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada..
    Kamatani, Yoichiro
    RIKEN, Ctr Integrat Med Sci, Lab Stat Anal, Yokohama, Kanagawa, Japan..
    Hagemeijer, Yanick P.
    Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Verweij, Niek
    Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Siland, Joylene E.
    Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Kubo, Michiaki
    RIKEN, Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan..
    Smith, Jonathan D.
    Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Mol Cardiol, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44106 USA..
    Van Wagoner, David R.
    Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Mol Cardiol, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44106 USA..
    Bis, Joshua C.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA..
    Perz, Siegfried
    Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Epidemiol 2, Neuherberg, Germany..
    Psaty, Bruce M.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA.;Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.;Univ Washington, Cardiovasc Hlth Res Unit, Washington, DC USA.;Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA USA.;Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA..
    Ridker, Paul M.
    Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA.;Brigham & Womens Hosp, Div Cardiovasc Med, 75 Francis St, Boston, MA 02115 USA..
    Magnani, Jared W.
    NHLBI, Framingham, MA USA.;Boston Univ Framingham Heart Study, Framingham, MA USA.;Boston Univ, Sch Med, Dept Med, Boston, MA 02215 USA..
    Harris, Tamara B.
    Natl Inst Aging, Lab Epidemiol Demog & Biometry, Bethesda, MD USA..
    Launer, Lenore J.
    Natl Inst Aging, Lab Epidemiol Demog & Biometry, Bethesda, MD USA..
    Shoemaker, M. Benjamin
    Vanderbilt Univ, Med Ctr, Dept Med, 221 Kirkland Hall, Nashville, TN 37235 USA..
    Padmanabhan, Sandosh
    Univ Glasgow, BHF Glasgow Cardiovasc Res Ctr, Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland..
    Haessler, Jeffrey
    Univ Washington, Fred Hutchinson Canc Res Ctr, Seattle, WA 98195 USA..
    Bartz, Traci M.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA.;Univ Washington, Dept Biostat, Cardiovasc Hlth Res Unit, Seattle, WA 98195 USA..
    Waldenberger, Melanie
    DZHK German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany.;Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Epidemiol 2, Neuherberg, Germany.;Helmholtz Zentrum Munchen German Res Ctr Environm, Res Unit Mol Epidemiol, Neuherberg, Germany..
    Lichtner, Peter
    Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Human Genet, Neuherberg, Germany..
    Arendt, Marina
    Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany..
    Krieger, Jose E.
    Univ Sao Paulo, Heart Inst, Lab Genet & Mol Cardiol, Sao Paulo, Brazil..
    Kahonen, Mika
    Univ Tampere, Sch Med, Tampere, Finland.;Tampere Univ Hosp, Dept Clin Physiol, Tampere, Finland..
    Risch, Lorenz
    Univ Bern, Univ Inst Clin Chem, Bern, Switzerland.;Labormed Zentrum Dr Risch, Schaan, Liechtenstein..
    Mansur, Alfredo J.
    Univ Sao Paulo, Heart Inst, Sao Paulo, Brazil..
    Peters, Annette
    DZHK German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany.;Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Epidemiol 2, Neuherberg, Germany.;German Ctr Diabet Res, Neuherberg, Germany..
    Smith, Blair H.
    Univ Dundee, Div Populat Hlth Sci, Dundee, Scotland..
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Scott, Stuart A.
    Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA..
    Lu, Yingchang
    Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA..
    Bottinger, Erwin B.
    Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Dept Pharmacol & Syst Therapeut, New York, NY 10029 USA..
    Hernesniemi, Jussi
    Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Sch Med, Tampere, Finland.;Tampere Univ Hosp, Heart Hosp, Dept Cardiol, Tampere, Finland..
    Lindgren, Cecilia M.
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England..
    Wong, Jorge A.
    McMaster Univ, Div Cardiol Hamilton Hlth Sci, Hamilton, ON, Canada..
    Huang, Jie
    Boston VA Res Inst Inc, Boston, MA USA..
    Eskola, Markku
    Univ Tampere, Sch Med, Tampere, Finland.;Tampere Univ Hosp, Heart Hosp, Dept Cardiol, Tampere, Finland..
    Morris, Andrew P.
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Liverpool, Dept Biostat, Liverpool, Merseyside, England..
    Ford, Ian
    Univ Glasgow, Robertson Ctr Biostat, Glasgow, Lanark, Scotland..
    Reiner, Alex P.
    Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.;Univ Glasgow, BHF Glasgow Cardiovasc Res Ctr, Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland..
    Delgado, Graciela
    Heidelberg Univ, Med Fac Mannheim, Dept Med 5, Heidelberg, Germany..
    Chen, Lin Y.
    Univ Minnesota, Dept Med, Med Sch, Cardiovasc Div, Box 736 UMHC, Minneapolis, MN 55455 USA..
    Chen, Yii-Der Ida
    Harbor UCLA Med Ctr, LABioMed, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Sandhu, Roopinder K.
    Univ Alberta, Div Cardiol, Edmonton, AB, Canada..
    Li, Man
    Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Johns Hopkins Univ, Dept Epidemiol, Baltimore, MD USA.;Univ Utah, Sch Med, Div Nephrol & Hypertens, Internal Med, Salt Lake City, UT USA..
    Boerwinkle, Eric
    Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA..
    Eisele, Lewin
    Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany..
    Lannfelt, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Geriatrics.
    Rost, Natalia
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Acute Stroke Serv, Boston, MA 02114 USA..
    Anderson, Christopher D.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA..
    Taylor, Kent D.
    Harbor UCLA Med Ctr, LABioMed, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Campbell, Archie
    Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Generat Scotland, Edinburgh, Midlothian, Scotland..
    Magnusson, Patrik K.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Porteous, David
    Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Generat Scotland, Edinburgh, Midlothian, Scotland..
    Hocking, Lynne J.
    Univ Aberdeen, Div Appl Med, Musculoskeletal Res Programme, Aberdeen, Scotland..
    Vlachopoulou, Efthymia
    Univ Helsinki, Medicum, Transplantat Lab, Helsinki, Finland..
    Pedersen, Nancy L.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Nikus, Kjell
    Univ Tampere, Sch Med, Tampere, Finland.;Tampere Univ Hosp, Heart Hosp, Dept Cardiol, Tampere, Finland..
    Orho-Melander, Marju
    Lund Univ, Dept Clin Sci, Malmo, Sweden..
    Hamsten, Anders
    Karolinska Inst, Dept Med Solna, Atherosclerosis Res Unit, Cardiovasc Genet & Genom Grp, Stockholm, Sweden..
    Heeringa, Jan
    Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Denny, Joshua C.
    Vanderbilt Univ, Med Ctr, Dept Med, 221 Kirkland Hall, Nashville, TN 37235 USA..
    Kriebel, Jennifer
    Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Epidemiol 2, Neuherberg, Germany.;Helmholtz Zentrum Munchen German Res Ctr Environm, Res Unit Mol Epidemiol, Neuherberg, Germany.;German Ctr Diabet Res, Neuherberg, Germany..
    Darbar, Dawood
    Univ Illinois, Dept Med & Pharmacol, Chicago, IL USA..
    Newton-Cheh, Christopher
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA..
    Shaffer, Christian
    Vanderbilt Univ, Med Ctr, Dept Med, 221 Kirkland Hall, Nashville, TN 37235 USA..
    Macfarlane, Peter W.
    Univ Glasgow, Coll Med Vet & Sci, Inst Hlth & Wellbeing, Glasgow, Lanark, Scotland..
    Heilmann-Heimbach, Stefanie
    Univ Bonn, Inst Human Genet, Bonn, Germany.;Univ Bonn, Life & Brain Res Ctr, Dept Gen, Bonn, Germany..
    Almgren, Peter
    Lund Univ, Dept Clin Sci, Malmo, Sweden..
    Huang, Paul L.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA..
    Sotoodehnia, Nona
    Univ Washington, Cardiovasc Hlth Res Unit, Washington, DC USA..
    Soliman, Elsayed Z.
    Wake Forest Sch Med, Epidemiol Cardiol Res Ctr EPICARE, Winston Salem, NC USA..
    Uitterlinden, Andre G.
    Erasmus MC, Dept Epidemiol & Internal Med, Rotterdam, Netherlands..
    Hofman, Albert
    Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Franco, Oscar H.
    Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Voelker, Uwe
    DZHK German Ctr Cardiovasc Res, Greifswald, Germany.;Univ Med, Interfac Inst Genet & Funct Gen, Greifswald, Germany.;Ernst Moritz Arndt Univ Greifswald, Greifswald, Germany..
    Joeckel, Karl-Heinz
    Univ Hosp Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany..
    Sinner, Moritz F.
    Univ Hosp Munich, Ludwig Maximilians Univ, Dept Med 1, Munich, Germany.;DZHK German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany..
    Lin, Henry J.
    Harbor UCLA Med Ctr, LABioMed, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Guo, Xiuqing
    Harbor UCLA Med Ctr, LABioMed, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Dichgans, Martin
    Klinikum Univ Munchen, Inst Stroke & Dementia Res, Ludwig Maximilians Univ, Munich, Germany.;Munich Cluster Syst Neurol SyNergy, Munich, Germany.;German Ctr Neurodegenerat Dis DZNE, Munich, Germany..
    Ingelsson, Erik
    Uppsala University, Science for Life Laboratory, SciLifeLab. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology.
    Kooperberg, Charles
    Univ Washington, Fred Hutchinson Canc Res Ctr, Seattle, WA 98195 USA..
    Melander, Olle
    Lund Univ, Clin Sci, Dept Internal Med, Malmo, Sweden..
    Loos, Ruth J. F.
    Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA..
    Laurikka, Jari
    Univ Tampere, Sch Med, Tampere, Finland.;Tampere Univ Hosp, Heart Hosp, Dept Cardio Thorac Surg, Tampere, Finland..
    Conen, David
    Univ Basel Hosp, Dept Med, Basel, Switzerland.;Cardiovasc Res Inst Basel, Basel, Switzerland..
    Rosand, Jonathan
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA..
    van der Harst, Pim
    Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Lokki, Marja-Liisa
    Univ Helsinki, Medicum, Transplantat Lab, Helsinki, Finland..
    Kathiresan, Sekar
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA..
    Pereira, Alexandre
    Univ Sao Paulo, Heart Inst, Lab Genet & Mol Cardiol, Sao Paulo, Brazil.;Harvard Med Sch, Dept Genet, Boston, MA USA..
    Jukema, J. Wouter
    Leiden Univ, Med Ctr, Dept Cardiol, Leiden, Netherlands.;Durrer Ctr Cardiogenet Res, Amsterdam, Netherlands.;Interuniv Cardiol Inst Netherlands, Utrecht, Netherlands..
    Hayward, Caroline
    Univ Edinburgh, Inst Genet & Mol Med, MRC, Human Genet Unit, Edinburgh, Midlothian, Scotland..
    Rotter, Jerome I.
    Harbor UCLA Med Ctr, LABioMed, Dept Pediat, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, LABioMed, Dept Med, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA..
    Maerz, Winfried
    Med Univ Graz, Inst Clin Med, Graz, Austria.;Med Univ Graz, Chem Lab Diagnost, Graz, Austria.;Synlab Holding Deutschland GmbH, Synlab Acad, Mannheim, Germany.;Synlab Holding Deutschland GmbH, Synlab Acad, Augsburg, Germany..
    Lehtimaki, Terho
    Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Sch Med, Tampere, Finland..
    Stricker, Bruno H.
    Erasmus MC, Dept Epidemiol & Internal Med, Rotterdam, Netherlands.;Inspectorate Hlth Care, Utrecht, Netherlands..
    Chung, Mina K.
    Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Cellular & Mol Med, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Mol Cardiol, Cleveland, OH 44106 USA.;Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44106 USA..
    Felix, Stephan B.
    Univ Med Greifswald, Dept Internal Med B, Greifswald, Germany.;DZHK German Ctr Cardiovasc Res, Greifswald, Germany..
    Gudnason, Vilmundur
    Iceland Heart Assoc, Kopavogur, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Alonso, Alvaro
    Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30322 USA..
    Roden, Dan M.
    Vanderbilt Univ, Med Ctr, Dept Med, 221 Kirkland Hall, Nashville, TN 37235 USA..
    Kaeaeb, Stefan
    Univ Hosp Munich, Ludwig Maximilians Univ, Dept Med 1, Munich, Germany.;DZHK German Ctr Cardiovasc Res, Munich Heart Alliance, Munich, Germany..
    Chasman, Daniel I.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA.;Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA..
    Heckbert, Susan R.
    Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.;Univ Washington, Cardiovasc Hlth Res Unit, Washington, DC USA.;Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA USA..
    Benjamin, Emelia J.
    NHLBI, Framingham, MA USA.;Boston Univ Framingham Heart Study, Framingham, MA USA.;Boston Univ, Sch Med, Dept Med, Boston, MA 02215 USA.;Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02215 USA..
    Tanaka, Toshihiro
    RIKEN, Ctr Integrat Med Sci, Lab Cardiovasc Dis, Yokohama, Kanagawa, Japan.;Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Human Genet & Dis Divers, Tokyo, Japan..
    Lunetta, Kathryn L.
    NHLBI, Framingham, MA USA.;Boston Univ Framingham Heart Study, Framingham, MA USA..
    Lubitz, Steven A.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Massachusetts Gen Hosp, Cardiac Arrhythmia Serv, Boston, MA 02114 USA..
    Ellinor, Patrick T.
    Broad Inst & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Massachusetts Gen Hosp, Cardiac Arrhythmia Serv, Boston, MA 02114 USA..
    Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation2017In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 49, no 6, p. 946-+Article in journal (Refereed)
    Abstract [en]

    Atrial fibrillation affects more than 33 million people worldwide and increases the risk of stroke, heart failure, and death(1,2). Fourteen genetic loci have been associated with atrial fibrillation in European and Asian ancestry groups(3-7). To further define the genetic basis of atrial fibrillation, we performed large-scale, trans-ancestry meta-analyses of common and rare variant association studies. The genome-wide association studies (GWAS) included 17,931 individuals with atrial fibrillation and 115,142 referents; the exome-wide association studies (ExWAS) and rare variant association studies (RVAS) involved 22,346 cases and 132,086 referents. We identified 12 new genetic loci that exceeded genome-wide significance, implicating genes involved in cardiac electrical and structural remodeling. Our results nearly double the number of known genetic loci for atrial fibrillation, provide insights into the molecular basis of atrial fibrillation, and may facilitate the identification of new potential targets for drug discovery(8).

  • 20. Chu, Audrey Y
    et al.
    Deng, Xuan
    Fisher, Virginia A
    Drong, Alexander
    Zhang, Yang
    Feitosa, Mary F
    Liu, Ching-Ti
    Weeks, Olivia
    Choh, Audrey C
    Duan, Qing
    Dyer, Thomas D
    Eicher, John D
    Guo, Xiuqing
    Heard-Costa, Nancy L
    Kacprowski, Tim
    Kent, Jack W
    Lange, Leslie A
    Liu, Xinggang
    Lohman, Kurt
    Lu, Lingyi
    Mahajan, Anubha
    O'Connell, Jeffrey R
    Parihar, Ankita
    Peralta, Juan M
    Smith, Albert V
    Zhang, Yi
    Homuth, Georg
    Kissebah, Ahmed H
    Kullberg, Joel
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Radiology.
    Laqua, René
    Launer, Lenore J
    Nauck, Matthias
    Olivier, Michael
    Peyser, Patricia A
    Terry, James G
    Wojczynski, Mary K
    Yao, Jie
    Bielak, Lawrence F
    Blangero, John
    Borecki, Ingrid B
    Bowden, Donald W
    Carr, John Jeffrey
    Czerwinski, Stefan A
    Ding, Jingzhong
    Friedrich, Nele
    Gudnason, Vilmunder
    Harris, Tamara B
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Johnson, Andrew D
    Kardia, Sharon L R
    Langefeld, Carl D
    Lind, Lars
    Liu, Yongmei
    Mitchell, Braxton D
    Morris, Andrew P
    Mosley, Thomas H
    Rotter, Jerome I
    Shuldiner, Alan R
    Towne, Bradford
    Völzke, Henry
    Wallaschofski, Henri
    Wilson, James G
    Allison, Matthew
    Lindgren, Cecilia M
    Goessling, Wolfram
    Cupples, L Adrienne
    Steinhauser, Matthew L
    Fox, Caroline S
    Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation2017In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 49, no 1, p. 125-130Article in journal (Refereed)
    Abstract [en]

    Variation in body fat distribution contributes to the metabolic sequelae of obesity. The genetic determinants of body fat distribution are poorly understood. The goal of this study was to gain new insights into the underlying genetics of body fat distribution by conducting sample-size-weighted fixed-effects genome-wide association meta-analyses in up to 9,594 women and 8,738 men of European, African, Hispanic and Chinese ancestry, with and without sex stratification, for six traits associated with ectopic fat (hereinafter referred to as ectopic-fat traits). In total, we identified seven new loci associated with ectopic-fat traits (ATXN1, UBE2E2, EBF1, RREB1, GSDMB, GRAMD3 and ENSA; P < 5 × 10(-8); false discovery rate < 1%). Functional analysis of these genes showed that loss of function of either Atxn1 or Ube2e2 in primary mouse adipose progenitor cells impaired adipocyte differentiation, suggesting physiological roles for ATXN1 and UBE2E2 in adipogenesis. Future studies are necessary to further explore the mechanisms by which these genes affect adipocyte biology and how their perturbations contribute to systemic metabolic disease.

  • 21. Church, Deanna M.
    et al.
    Lappalainen, Ilkka
    Sneddon, Tam P.
    Hinton, Jonathan
    Maguire, Michael
    Lopez, John
    Garner, John
    Paschall, Justin
    DiCuccio, Michael
    Yaschenko, Eugene
    Scherer, Stephen W.
    Feuk, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Flicek, Paul
    Public data archives for genomic structural variation2010In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 42, no 10, p. 813-814Article in journal (Refereed)
  • 22. Conde, Lucia
    et al.
    Halperin, Eran
    Akers, Nicholas K.
    Brown, Kevin M.
    Smedby, Karin E.
    Rothman, Nathaniel
    Nieters, Alexandra
    Slager, Susan L.
    Brooks-Wilson, Angela
    Agana, Luz
    Riby, Jacques
    Liu, Jianjun
    Adami, Hans-Olov
    Darabi, Hatef
    Hjalgrim, Henrik
    Low, Hui-Qi
    Humphreys, Keith
    Melbye, Mads
    Chang, Ellen T.
    Glimelius, Bengt
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology.
    Cozen, Wendy
    Davis, Scott
    Hartge, Patricia
    Morton, Lindsay M.
    Schenk, Maryjean
    Wang, Sophia S.
    Armstrong, Bruce
    Kricker, Anne
    Milliken, Sam
    Purdue, Mark P.
    Vajdic, Claire M.
    Boyle, Peter
    Lan, Qing
    Zahm, Shelia H.
    Zhang, Yawei
    Zheng, Tongzhang
    Becker, Nikolaus
    Benavente, Yolanda
    Boffetta, Paolo
    Brennan, Paul
    Butterbach, Katja
    Cocco, Pierluigi
    Foretova, Lenka
    Maynadie, Marc
    de Sanjose, Silvia
    Staines, Anthony
    Spinelli, John J.
    Achenbach, Sara J.
    Call, Timothy G.
    Camp, Nicola J.
    Glenn, Martha
    Caporaso, Neil E.
    Cerhan, James R.
    Cunningham, Julie M.
    Goldin, Lynn R.
    Hanson, Curtis A.
    Kay, Neil E.
    Lanasa, Mark C.
    Leis, Jose F.
    Marti, Gerald E.
    Rabe, Kari G.
    Rassenti, Laura Z.
    Spector, Logan G.
    Strom, Sara S.
    Vachon, Celine M.
    Weinberg, J. Brice
    Holly, Elizabeth A.
    Chanock, Stephen
    Smith, Martyn T.
    Bracci, Paige M.
    Skibola, Christine F.
    Genome-wide association study of follicular lymphoma identifies a risk locus at 6p21.322010In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 42, no 8, p. 661-664Article in journal (Refereed)
    Abstract [en]

    To identify susceptibility loci for non-Hodgkin lymphoma subtypes, we conducted a three-stage genome-wide association study. We identified two variants associated with follicular lymphoma at 6p21.32 (rs10484561, combined P = 1.12 x 10(-29) and rs7755224, combined P = 2.00 x 10(-19); r(2) = 1.0), supporting the idea that major histocompatibility complex genetic variation influences follicular lymphoma susceptibility. We also found confirmatory evidence of a previously reported association between chronic lymphocytic leukemia/small lymphocytic lymphoma and rs735665 (combined P = 4.24 x 10(-9)).

  • 23. Cox, Angela
    et al.
    Dunning, Alison M.
    Garcia-Closas, Montserrat
    Balasubramanian, Sabapathy
    Reed, Malcolm W. R.
    Pooley, Karen A.
    Scollen, Serena
    Baynes, Caroline
    Ponder, Bruce A. J.
    Chanock, Stephen
    Lissowska, Jolanta
    Brinton, Louise
    Peplonska, Beata
    Southey, Melissa C.
    Hopper, John L.
    McCredie, Margaret R. E.
    Giles, Graham G.
    Fletcher, Olivia
    Johnson, Nichola
    dos Santos Silva, Isabel
    Gibson, Lorna
    Bojesen, Stig E.
    Nordestgaard, Børge G.
    Axelsson, Christen K.
    Torres, Diana
    Hamann, Ute
    Justenhoven, Christina
    Brauch, Hiltrud
    Chang-Claude, Jenny
    Kropp, Silke
    Risch, Angela
    Wang-Gohrke, Shan
    Schürmann, Peter
    Bogdanova, Natalia
    Dörk, Thilo
    Fagerholm, Rainer
    Aaltonen, Kirsimari
    Blomqvist, Carl
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology, Oncology.
    Nevanlinna, Heli
    Seal, Sheila
    Renwick, Anthony
    Stratton, Michael R.
    Rahman, Nazneen
    Sangrajrang, Suleeporn
    Hughes, David
    Odefrey, Fabrice
    Brennan, Paul
    Spurdle, Amanda B.
    Chenevix-Trench, Georgia
    Beesley, Jonathan
    Mannermaa, Arto
    Hartikainen, Jaana
    Kataja, Vesa
    Kosma, Veli-Matti
    Couch, Fergus J.
    Olson, Janet E.
    Goode, Ellen L.
    Broeks, Annegien
    Schmidt, Marjanka K.
    Hogervorst, Frans B. L.
    Van't Veer, Laura J.
    Kang, Daehee
    Yoo, Keun-Young
    Noh, Dong-Young
    Ahn, Sei-Hyun
    Wedrén, Sara
    Hall, Per
    Low, Yen-Ling
    Liu, Jianjun
    Milne, Roger L
    Ribas, Gloria
    Gonzalez-Neira, Anna
    Benitez, Javier
    Sigurdson, Alice J.
    Stredrick, Denise L.
    Alexander, Bruce H.
    Struewing, Jeffery P.
    Pharoah, Paul D. P.
    Easton, Douglas F.
    A common coding variant in CASP8 is associated with breast cancer risk2007In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 39, no 3, p. 352-358Article in journal (Refereed)
    Abstract [en]

    The Breast Cancer Association Consortium (BCAC) has been established to conduct combined case-control analyses with augmented statistical power to try to confirm putative genetic associations with breast cancer. We genotyped nine SNPs for which there was some prior evidence of an association with breast cancer: CASP8 D302H (rs1045485), IGFBP3 -202 C --> A (rs2854744), SOD2 V16A (rs1799725), TGFB1 L10P (rs1982073), ATM S49C (rs1800054), ADH1B 3' UTR A --> G (rs1042026), CDKN1A S31R (rs1801270), ICAM5 V301I (rs1056538) and NUMA1 A794G (rs3750913). We included data from 9-15 studies, comprising 11,391-18,290 cases and 14,753-22,670 controls. We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i.: 0.62-0.87) for heterozygotes and rare homozygotes, respectively, compared with common homozygotes; P(trend) = 1.1 x 10(-7)) and weaker evidence for TGFB1 L10P (OR = 1.07 (95% c.i.: 1.02-1.13) and 1.16 (95% c.i.: 1.08-1.25), respectively; P(trend) = 2.8 x 10(-5)). These results demonstrate that common breast cancer susceptibility alleles with small effects on risk can be identified, given sufficiently powerful studies.

  • 24. Crowther-Swanepoel, Dalemari
    et al.
    Broderick, Peter
    Di Bernardo, Maria Chiara
    Dobbins, Sara E.
    Torres, Maria
    Mansouri, Mahmoud
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Ruiz-Ponte, Clara
    Enjuanes, Anna
    Rosenquist, Richard
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Carracedo, Angel
    Jurlander, Jesper
    Campo, Elias
    Juliusson, Gunnar
    Montserrat, Emilio
    Smedby, Karin E.
    Dyer, Martin J. S.
    Matutes, Estella
    Dearden, Claire
    Sunter, Nicola J.
    Hall, Andrew G.
    Mainou-Fowler, Tryfonia
    Jackson, Graham H.
    Summerfield, Geoffrey
    Harris, Robert J.
    Pettitt, Andrew R.
    Allsup, David J.
    Bailey, James R.
    Pratt, Guy
    Pepper, Chris
    Fegan, Chris
    Parker, Anton
    Oscier, David
    Allan, James M.
    Catovsky, Daniel
    Houlston, Richard S.
    Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk2010In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 42, no 2, p. 132-136Article in journal (Refereed)
    Abstract [en]

    To identify new risk variants for chronic lymphocytic leukemia (CLL), we conducted a genome-wide association study of 299,983 tagging SNPs, with validation in four additional series totaling 2,503 cases and 5,789 controls. We identified four new risk loci for CLL at 2q37.3 (rs757978, FARP2; odds ratio (OR) = 1.39; P = 2.11 x 10(-9)), 8q24.21 (rs2456449; OR = 1.26; P = 7.84 x 10(-10)), 15q21.3 (rs7169431; OR = 1.36; P = 4.74 x 10(-7)) and 16q24.1 (rs305061; OR = 1.22; P = 3.60 x 10(-7)). We also found evidence for risk loci at 15q25.2 (rs783540, CPEB1; OR = 1.18; P = 3.67 x 10(-6)) and 18q21.1 (rs1036935; OR = 1.22; P = 2.28 x 10(-6)). These data provide further evidence for genetic susceptibility to this B-cell hematological malignancy.

  • 25.
    Dahl, Andrew
    et al.
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England..
    Iotchkova, Valentina
    Wellcome Trust Sanger Inst, Human Genet, Wellcome Trust Genome Campus, Hinxton, England.;European Bioinformat Inst EMBL EBI, Wellcome Trust Genome Campus, Hinxton, England..
    Baud, Amelie
    European Bioinformat Inst EMBL EBI, Wellcome Trust Genome Campus, Hinxton, England..
    Johansson, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Soranzo, Nicole
    Wellcome Trust Sanger Inst, Human Genet, Wellcome Trust Genome Campus, Hinxton, England..
    Mott, Richard
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England..
    Kranis, Andreas
    Aviagen Ltd, Newbridge, England.;Univ Edinburgh, Roslin Inst, Edinburgh EH8 9YL, Midlothian, Scotland..
    Marchini, Jonathan
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Dept Stat, Oxford OX1 3TG, England..
    A multiple-phenotype imputation method for genetic studies2016In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 4, p. 466-472Article in journal (Refereed)
    Abstract [en]

    Genetic association studies have yielded a wealth of biological discoveries. However, these studies have mostly analyzed one trait and one SNP at a time, thus failing to capture the underlying complexity of the data sets. Joint genotype-phenotype analyses of complex, high-dimensional data sets represent an important way to move beyond simple genome-wide association studies (GWAS) with great potential. The move to high-dimensional phenotypes will raise many new statistical problems. Here we address the central issue of missing phenotypes in studies with any level of relatedness between samples. We propose a multiple-phenotype mixed model and use a computationally efficient variational Bayesian algorithm to fit the model. On a variety of simulated and real data sets from a range of organisms and trait types, we show that our method outperforms existing state-of-the-art methods from the statistics and machine learning literature and can boost signals of association.

  • 26. Deloukas, Panos
    et al.
    Kanoni, Stavroula
    Willenborg, Christina
    Farrall, Martin
    Assimes, Themistocles L
    Thompson, John R
    Ingelsson, Erik
    Saleheen, Danish
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Erdmann, Jeanette
    Goldstein, Benjamin A
    Stirrups, Kathleen
    König, Inke R
    Cazier, Jean-Baptiste
    Johansson, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Hall, Alistair S
    Lee, Jong-Young
    Willer, Cristen J
    Chambers, John C
    Esko, Tõnu
    Folkersen, Lasse
    Goel, Anuj
    Grundberg, Elin
    Havulinna, Aki S
    Ho, Weang K
    Hopewell, Jemma C
    Eriksson, Niclas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Kleber, Marcus E
    Kristiansson, Kati
    Lundmark, Per
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Lyytikäinen, Leo-Pekka
    Rafelt, Suzanne
    Shungin, Dmitry
    Strawbridge, Rona J
    Thorleifsson, Gudmar
    Tikkanen, Emmi
    van Zuydam, Natalie
    Voight, Benjamin F
    Waite, Lindsay L
    Zhang, Weihua
    Ziegler, Andreas
    Absher, Devin
    Altshuler, David
    Balmforth, Anthony J
    Barroso, Inês
    Braund, Peter S
    Burgdorf, Christof
    Claudi-Boehm, Simone
    Cox, David
    Dimitriou, Maria
    Do, Ron
    Doney, Alex S F
    Mokhtari, Noureddine El
    Eriksson, Per
    Fischer, Krista
    Fontanillas, Pierre
    Franco-Cereceda, Anders
    Gigante, Bruna
    Groop, Leif
    Gustafsson, Stefan
    Hager, Jörg
    Hallmans, Göran
    Han, Bok-Ghee
    Hunt, Sarah E
    Kang, Hyun M
    Illig, Thomas
    Kessler, Thorsten
    Knowles, Joshua W
    Kolovou, Genovefa
    Kuusisto, Johanna
    Langenberg, Claudia
    Langford, Cordelia
    Leander, Karin
    Lokki, Marja-Liisa
    Lundmark, Anders
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    McCarthy, Mark I
    Meisinger, Christa
    Melander, Olle
    Mihailov, Evelin
    Maouche, Seraya
    Morris, Andrew D
    Müller-Nurasyid, Martina
    Nikus, Kjell
    Peden, John F
    Rayner, N William
    Rasheed, Asif
    Rosinger, Silke
    Rubin, Diana
    Rumpf, Moritz P
    Schäfer, Arne
    Sivananthan, Mohan
    Song, Ci
    Stewart, Alexandre F R
    Tan, Sian-Tsung
    Thorgeirsson, Gudmundur
    Schoot, C Ellen van der
    Wagner, Peter J
    Wells, George A
    Wild, Philipp S
    Yang, Tsun-Po
    Amouyel, Philippe
    Arveiler, Dominique
    Basart, Hanneke
    Boehnke, Michael
    Boerwinkle, Eric
    Brambilla, Paolo
    Cambien, Francois
    Cupples, Adrienne L
    de Faire, Ulf
    Dehghan, Abbas
    Diemert, Patrick
    Epstein, Stephen E
    Evans, Alun
    Ferrario, Marco M
    Ferrières, Jean
    Gauguier, Dominique
    Go, Alan S
    Goodall, Alison H
    Gudnason, Villi
    Hazen, Stanley L
    Holm, Hilma
    Iribarren, Carlos
    Jang, Yangsoo
    Kähönen, Mika
    Kee, Frank
    Kim, Hyo-Soo
    Klopp, Norman
    Koenig, Wolfgang
    Kratzer, Wolfgang
    Kuulasmaa, Kari
    Laakso, Markku
    Laaksonen, Reijo
    Lee, Ji-Young
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Ouwehand, Willem H
    Parish, Sarah
    Park, Jeong E
    Pedersen, Nancy L
    Peters, Annette
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Quertermous, Thomas
    Rader, Daniel J
    Salomaa, Veikko
    Schadt, Eric
    Shah, Svati H
    Sinisalo, Juha
    Stark, Klaus
    Stefansson, Kari
    Trégouët, David-Alexandre
    Virtamo, Jarmo
    Wallentin, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Wareham, Nicholas
    Zimmermann, Martina E
    Nieminen, Markku S
    Hengstenberg, Christian
    Sandhu, Manjinder S
    Pastinen, Tomi
    Syvänen, Ann-Christine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Hovingh, G Kees
    Dedoussis, George
    Franks, Paul W
    Lehtimäki, Terho
    Metspalu, Andres
    Zalloua, Pierre A
    Siegbahn, Agneta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Coagulation and inflammation science.
    Schreiber, Stefan
    Ripatti, Samuli
    Blankenberg, Stefan S
    Perola, Markus
    Clarke, Robert
    Boehm, Bernhard O
    O'Donnell, Christopher
    Reilly, Muredach P
    März, Winfried
    Collins, Rory
    Kathiresan, Sekar
    Hamsten, Anders
    Kooner, Jaspal S
    Thorsteinsdottir, Unnur
    Danesh, John
    Palmer, Colin N A
    Roberts, Robert
    Watkins, Hugh
    Schunkert, Heribert
    Samani, Nilesh J
    Large-scale association analysis identifies new risk loci for coronary artery disease2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 1, p. 25-33Article in journal (Refereed)
    Abstract [en]

    Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r2 < 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes (loci at 10% FDR) generated 5 interaction networks comprising 85% of these putative genes involved in CAD. The four most significant pathways mapping to these networks are linked to lipid metabolism and inflammation, underscoring the causal role of these activities in the genetic etiology of CAD. Our study provides insights into the genetic basis of CAD and identifies key biological pathways.

  • 27.
    Demenais, Florence
    et al.
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Margaritte-Jeannin, Patricia
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Barnes, Kathleen C.
    Univ Colorado, Colorado Ctr Personalized Med, Div Biomed Informat & Personalized Med, Denver, CO 80202 USA..
    Cookson, William O. C.
    Natl Heart & Lung Inst, Sect Genom Med, London, England..
    Altmueller, Janine
    Univ Cologne, Cologne Ctr Genom, Cologne, Germany.;Univ Cologne, CMMC, Cologne, Germany..
    Ang, Wei
    Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA, Australia..
    Barr, R. Graham
    Columbia Univ, Dept Med, New York, NY USA.;Columbia Univ, Div Epidemiol, New York, NY USA..
    Beaty, Terri H.
    Johns Hopkins Univ, Div Genet Epidemiol, Dept Epidemiol, Bloomberg Sch Publ Hlth, Baltimore, MD USA..
    Becker, Allan B.
    Univ Manitoba, Dept Pediat & Child Hlth, Winnipeg, MB, Canada..
    Beilby, John
    Queen Elizabeth II Med Ctr, Dept Diagnost Genom Lab, PathWest Lab Med, Nedlands, WA, Australia..
    Bisgaard, Hans
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, Copenhagen, Denmark..
    Bjornsdottir, Unnur Steina
    Natl Univ Hosp Iceland, Landspitali, Dept Med, Reykjavik, Iceland..
    Bleecker, Eugene
    Wake Forest Univ, Sch Med, Ctr Gen, Winston Salem, NC 27109 USA..
    Bonnelykke, Klaus
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, Copenhagen, Denmark..
    Boomsma, Dorret I.
    Vrjie Univ, Amsterdam Publ Hlth Res Inst, Dept Biol Psychol, Amsterdam, Netherlands..
    Bouzigon, Emmanuelle
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Brightling, Christopher E.
    Univ Leicester, Glenfield Hosp, Inst Lung Hlth, Leicester, Leics, England..
    Brossard, Myriam
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Brusselle, Guy G.
    Ghent Univ Hosp, Dept Resp Med, Ghent, Belgium.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Resp Med, Rotterdam, Netherlands..
    Burchard, Esteban
    Univ Calif San Francisco, Dept Bioengn & Therapeut Sci & Med, San Francisco, CA 94143 USA..
    Burkart, Kristin M.
    Columbia Univ, Coll Phys & Surg, Div Pulm Allergy & Crit Care, New York, NY USA..
    Bush, Andrew
    Imperial Coll London, Natl Heart & Lung Inst, London, England.;Royal Brompton Harefield Natl Hlth Serv NHS Fdn T, London, England..
    Chan-Yeung, Moira
    Univ British Columbia, Dept Med, Vancouver, BC, Canada..
    Chung, Kian Fan
    Imperial Coll London, Natl Heart & Lung Inst, London, England.;Royal Brompton & Harefield Natl Hlth Serv NHS Tru, Biomed Res Unit, London, England..
    Alves, Alexessander Couto
    Imperial Coll London, Dept Epidemiol & Biostat, London, England..
    Curtin, John A.
    Univ Manchester, Div Infect Immun & Resp Med, Sch Biol Sci, Fac Biol Med & Hlth,Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England..
    Custovic, Adnan
    Imperial Coll London, Dept Pediat, London, England..
    Daley, Denise
    Univ British Columbia, Dept Med, Vancouver, BC, Canada.;Univ British Columbia, Ctr Heart & Lung Innovat, Vancouver, BC, Canada..
    de Jongste, Johan C.
    Univ Med Ctr Rotterdam, Erasmus MC, Div Resp Med, Dept Pediat, Rotterdam, Netherlands..
    Del-Rio-Navarro, Blanca E.
    Hosp Infantil Mexico Dr Federico Gomez, Mexico City, DF, Mexico..
    Donohue, Kathleen M.
    Columbia Univ, Dept Med, New York, NY USA.;Columbia Univ, Div Epidemiol, New York, NY USA..
    Duijts, Liesbeth
    Univ Med Ctr Rotterdam, Erasmus MC, Div Resp Med, Dept Pediat, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Pediat, Div Neonatol, Rotterdam, Netherlands..
    Eng, Celeste
    Univ Calif San Francisco, Dept Med, San Francisco, CA USA..
    Eriksson, Johan G.
    Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland.;Helsinki Univ Hosp, Helsinki, Finland..
    Farrall, Martin
    Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England.;Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England..
    Fedorova, Yuliya
    Russian Acad Sci, Inst Biochem & Genet, Ufa Sci Ctr, Ufa, Russia..
    Feenstra, Bjarke
    Statens Serum Inst, Dept Epidemiol Res, Copenhagen, Denmark..
    Ferreira, Manuel A.
    QIMR Berghofer Med Res Inst, Genet & Computat Biol, Brisbane, Qld, Australia..
    Freidin, Maxim B.
    Tomsk NRMC, Res Inst Med Genet, Populat Genet Lab, Tomsk, Russia..
    Gajdos, Zofia
    Childrens Hosp, Div Genet & Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA.;Broad Inst, Cambridge, MA USA..
    Gauderman, Jim
    Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA..
    Gehring, Ulrike
    Univ Utrecht, Inst Risk Assessment Sci, Div Environm Epidemiol, Utrecht, Netherlands..
    Geller, Frank
    Statens Serum Inst, Dept Epidemiol Res, Copenhagen, Denmark..
    Genuneit, Jon
    Ulm Univ, Inst Epidemiol & Med Biometry, Ulm, Germany..
    Gharib, Sina A.
    Univ Washington, Dept Med, Seattle, WA USA..
    Gilliland, Frank
    Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA..
    Granell, Raquel
    Univ Bristol, Bristol Med Sch, Populat Hlth Sci, Bristol, Avon, England.;Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Graves, Penelope E.
    Univ Arizona, Asthma & Airway Dis Res Ctr, Tucson, AZ USA.;Univ Arizona, Inst BIO5, Tucson, AZ USA..
    Gudbjartsson, Daniel F.
    Amgen Inc, deCODE Genet, Reykjavik, Iceland.;Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland..
    Haahtela, Tari
    Univ Helsinki, Skin & Allergy Hosp, Helsinki, Finland..
    Heckbert, Susan R.
    Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA..
    Heederik, Dick
    Univ Utrecht, Inst Risk Assessment Sci, Div Environm Epidemiol, Utrecht, Netherlands..
    Heinrich, Joachim
    Univ Hosp Munich, Inst & Outpatient Clin Occupat Social & En, Munich, Germany.;Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Epidemiol 1, Neuherberg, Germany..
    Heliovaara, Markku
    Natl Inst Hlth & Welf THL, Helsinki, Finland..
    Henderson, John
    Univ Bristol, Bristol Med Sch, Populat Hlth Sci, Bristol, Avon, England.;Univ Bristol, MRC Integrat Epidemiol Unit, Bristol, Avon, England..
    Himes, Blanca E.
    Univ Penn, Dept Biostat Epidemiol & Informat, Philadelphia, PA 19104 USA..
    Hirose, Hiroshi
    Keio Univ, Dept Internal Med, Hlth Ctr, Tokyo, Japan..
    Hirschhorn, Joel N.
    Broad Inst, Cambridge, MA USA.;Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA.;Harvard Med Sch, Dept Pediat, Boston, MA USA.;Harvard Med Sch, Dept Genet, Boston, MA USA..
    Hofman, Albert
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA..
    Holt, Patrick
    Univ Western Australia, Cell Biol Telethon Kids Inst, Subiaco, WA, Australia..
    Hottenga, Jouke
    Vrjie Univ, Amsterdam Publ Hlth Res Inst, Dept Biol Psychol, Amsterdam, Netherlands..
    Hudson, Thomas J.
    Ontario Inst Canc Res, Toronto, ON, Canada.;AbbVie Inc, Redwood City, CA USA..
    Hui, Jennie
    Queen Elizabeth II Med Ctr, Dept Diagnost Genom Lab, PathWest Lab Med, Nedlands, WA, Australia.;Busselton Populat Med Res Inst, Perth, WA, Australia.;Univ Western Australia, Sch Populat & Global Hlth, Nedlands, WA, Australia..
    Imboden, Medea
    Swiss Trop & Publ Hlth Inst, Dept Epidemiol & Publ Hlth, Basel, Switzerland.;Univ Basel, Basel, Switzerland..
    Ivanov, Vladimir
    Kursk State Med Univ, Dept Biol Med Genet & Ecol, Kursk, Russia..
    Jaddoe, Vincent W. V.
    Univ Med Ctr Rotterdam, Erasmus MC, Generat R Study Grp, Dept Pediat, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    James, Alan
    Sir Charles Gairdner Hosp, Dept Pulm Physiol & Sleep Med, Busselton Populat Med Res Inst, Nedlands, WA, Australia.;Univ Western Australia, Sch Med & Pharmacol, Crawley, WA, Australia..
    Janson, Christer
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Lung- allergy- and sleep research.
    Jarvelin, Marjo-Riitta
    Imperial Coll London, Dept Epidemiol & Biostat, MRC PHE Ctr Environm & Hlth, Sch Publ Hlth, London, England.;Univ Oulu, Fac Med, Ctr Life Course Hlth Res, Oulu, Finland.;Univ Oulu, Bioctr Oulu, Oulu, Finland.;Oulu Univ Hosp, Unit Primary Care, Oulu, Finland..
    Jarvis, Deborah
    Imperial Coll London, Natl Heart & Lung Inst, London, England.;Imperial Coll London, MRC PHE Ctr Environm & Hlth, London, England..
    Jones, Graham
    Western Sydney Univ, Sch Sci & Hlth, Sydney, NSW, Australia..
    Jonsdottir, Ingileif
    Amgen Inc, deCODE Genet, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Jousilahti, Pekka
    Natl Inst Hlth & Welf THL, Helsinki, Finland..
    Kabesch, Michael
    Univ Childrens Hosp Regensburg KUNO, Dept Pediat Pneumol & Allergy, Regensburg, Germany..
    Kahonen, Mika
    Univ Tampere, Dept Clin Physiol, Tampere, Finland.;Tampere Univ Hosp, Tampere, Finland..
    Kantor, David B.
    Boston Childrens Hosp, Div Crit Care Med, Dept Anesthesiol Perioperat & Pain Med, Boston, MA USA.;Harvard Med Sch, Dept Anaesthesia, Boston, MA USA..
    Karunas, Alexandra S.
    Russian Acad Sci, Inst Biochem & Genet, Ufa Sci Ctr, Ufa, Russia.;Bashkir State Univ, Dept Genet & Fundamental Med, Ufa, Russia..
    Khusnutdinova, Elza
    Russian Acad Sci, Inst Biochem & Genet, Ufa Sci Ctr, Ufa, Russia.;Bashkir State Univ, Dept Genet & Fundamental Med, Ufa, Russia..
    Koppelman, Gerard H.
    Univ Groningen, Beatrix Childrens Hosp, Univ Med Ctr Groningen, Dept Pediat Pulmonol & Pediat Allergol, Groningen, Netherlands.;Groningen Res Inst Asthma & COPD GRIAC, Groningen, Netherlands..
    Kozyrskyj, Anita L.
    Univ Alberta, Dept Pediat, Edmonton, AB, Canada..
    Kreiner, Eskil
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, Copenhagen, Denmark..
    Kubo, Michiaki
    RIKEN Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan..
    Kumar, Rajesh
    Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA.;Northwestern Univ, Dept Pediat, Div Allergy & Clin Immunol, Feinberg Sch Med, Chicago, IL 60611 USA..
    Kumar, Ashish
    Swiss Trop & Publ Hlth Inst, Dept Epidemiol & Publ Hlth, Basel, Switzerland.;Univ Basel, Basel, Switzerland.;Karolinska Inst, Inst Environm Med, Stockholm, Sweden..
    Kuokkanen, Mikko
    Natl Inst Hlth & Welf THL, Helsinki, Finland.;Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland..
    Lahousse, Lies
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Univ Ghent, Fac Pharmaceut Sci, Pharmaceut Care Unit, Ghent, Belgium..
    Laitinen, Tarja
    Univ Turku, Dept Pulm Med, Turku, Finland.;Turku Univ Hosp, Turku, Finland..
    Laprise, Catherine
    Univ Quebec Chicoutimi, Dept Sci Fondament, Chicoutimi, PQ, Canada.;Ctr Sante & Serv Sociaux Saguenay Lac St Jean, Saguenay, PQ, Canada..
    Lathrop, Mark
    McGill Univ, Montreal, PQ, Canada.;Genome Quebec Innovat Ctr, Montreal, PQ, Canada..
    Lau, Susanne
    Charite, Pediat Pneumol & Immunol, Berlin, Germany..
    Lee, Young-Ae
    Max Delbruck Centrum MDC Mol Med, Berlin, Germany.;Charite, Pediat Allergol Expt & Clin Res Ctr, Berlin, Germany..
    Lehtimaki, Terho
    Univ Tampere, Fac Med & Life Sci, Dept Clin Chem, Fimlab Labs, Tampere, Finland..
    Letort, Sebastien
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Levin, Albert M.
    Henry Ford Hlth Syst, Dept Publ Hlth Sci, Detroit, MI USA..
    Li, Guo
    Univ Washington, Dept Med, Seattle, WA USA..
    Liang, Liming
    Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA.;Harvard TH Chan Sch Publ Hlth, Dept Biostat, Boston, MA USA..
    Loehr, Laura R.
    Univ North Carolina Chapel Hill, Div Gen Med, Chapel Hill, NC USA..
    London, Stephanie J.
    NIEHS, NIH, Dept Hlth & Human Serv, POB 12233, Res Triangle Pk, NC 27709 USA..
    Loth, Daan W.
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Manichaikul, Ani
    Univ Virginia, Ctr Publ Hlth Gen, Charlottesville, VA USA..
    Marenholz, Ingo
    Max Delbruck Centrum MDC Mol Med, Berlin, Germany.;Charite, Pediat Allergol Expt & Clin Res Ctr, Berlin, Germany..
    Martinez, Fernando J.
    Univ Arizona, Asthma & Airway Dis Res Ctr, Tucson, AZ USA.;Univ Arizona, Inst BIO5, Tucson, AZ USA..
    Matheson, Melanie C.
    Univ Melbourne, Melbourne Sch Populat & Global Hlth, Melbourne, Vic, Australia..
    Mathias, Rasika A.
    Johns Hopkins Univ, Dept Med, Div Allergy & Clin Immunol, Baltimore, MD USA..
    Matsumoto, Kenji
    Natl Res Inst Child Hlth & Dev, Dept Allergy & Clin Immunol, Tokyo, Japan..
    Mbarek, Hamdi
    Vrjie Univ, Amsterdam Publ Hlth Res Inst, Dept Biol Psychol, Amsterdam, Netherlands..
    McArdle, Wendy L.
    Univ Bristol, Sch Social & Community Med, Bristol Bioresource Labs, Bristol, Avon, England..
    Melbye, Mads
    Statens Serum Inst, Dept Epidemiol Res, Copenhagen, Denmark.;Univ Copenhagen, Dept Clin Med, Copenhagen, Denmark.;Stanford Univ, Dept Med, Sch Med, Stanford, CA 94305 USA..
    Melen, Erik
    Karolinska Inst, Inst Environm Med, Stockholm, Sweden.;Stockholm Cty Council, Ctr Occupat & Environm Med, Stockholm, Sweden.;Sachs Childrens Hosp, Stockholm, Sweden..
    Meyers, Deborah
    Wake Forest Univ, Sch Med, Ctr Gen, Winston Salem, NC 27109 USA..
    Michel, Sven
    Univ Childrens Hosp Regensburg KUNO, Dept Pediat Pneumol & Allergy, Regensburg, Germany..
    Mohamdi, Hamida
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Musk, Arthur W.
    Sir Charles Gairdner Hosp, Dept Resp Med, Nedlands, WA, Australia.;Univ Western Australia, Sch Populat Hlth, Perth, WA, Australia.;Univ Western Australia, Sch Med & Pharmacol, Perth, WA, Australia..
    Myers, Rachel A.
    Duke Univ, Sch Med, Ctr Appl Genom & Precis Med, Durham, NC USA..
    Nieuwenhuis, Maartje A. E.
    Groningen Res Inst Asthma & COPD GRIAC, Groningen, Netherlands.;Univ Groningen, Dept Pulmonol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Noguchi, Emiko
    Univ Tsukuba, Fac Med, Dept Med Genet, Tsukuba, Ibaraki, Japan..
    O'Connor, George T.
    Boston Univ, Sch Med, Dept Med, Pulmonary Ctr, Boston, MA 02118 USA.;Natl Heart Lung & Blood Inst Framingham Heart Stu, Framingham, MA USA..
    Ogorodova, Ludmila M.
    Siberian State Med Univ, Dept Fac Pediat, Tomsk, Russia..
    Palmer, Cameron D.
    Broad Inst, Cambridge, MA USA.;Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA..
    Palotie, Aarno
    Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.;Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Dept Med, Boston, MA 02114 USA.;Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Dept Neurol, Boston, MA 02114 USA.;Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Dept Psychiat, Boston, MA 02114 USA.;Broad Inst, Stanley Ctr Psychiat Res & Program Med & Populat, Cambridge, MA USA..
    Park, Julie E.
    Univ British Columbia, Dept Med, Vancouver, BC, Canada..
    Pennell, Craig E.
    Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA, Australia..
    Pershagen, Goran
    Karolinska Inst, Inst Environm Med, Stockholm, Sweden.;Stockholm Cty Council, Ctr Occupat & Environm Med, Stockholm, Sweden..
    Polonikov, Alexey
    Kursk State Med Univ, Dept Biol Med Genet & Ecol, Kursk, Russia..
    Postma, Dirkje S.
    Groningen Res Inst Asthma & COPD GRIAC, Groningen, Netherlands.;Univ Groningen, Dept Pulmonol, Univ Med Ctr Groningen, Groningen, Netherlands..
    Probst-Hensch, Nicole
    Swiss Trop & Publ Hlth Inst, Dept Epidemiol & Publ Hlth, Basel, Switzerland.;Univ Basel, Basel, Switzerland..
    Puzyrev, Valery P.
    Tomsk NRMC, Res Inst Med Genet, Populat Genet Lab, Tomsk, Russia..
    Raby, Benjamin A.
    Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Raitakari, Olli T.
    Univ Turku, Dept Clin Physiol & Nucl Med, Turku, Finland.;Turku Univ Hosp, Turku, Finland..
    Ramasamy, Adaikalavan
    Imperial Coll London, Dept Epidemiol & Biostat, London, England.;Kings Coll London, Dept Med & Mol Genet, London, England..
    Rich, Stephen S.
    Univ Virginia, Ctr Publ Hlth Gen, Charlottesville, VA USA..
    Robertson, Colin F.
    Murdoch Childrens Res Inst, Respiratory Med, Melbourne, Vic, Australia..
    Romieu, Isabelle
    Mory Univ, Hubert Dept Global Hlth, Atlanta, GA USA.;Natl Inst Publ Hlth, Ctr Populat Hlth Res, Cuernavaca, Morelos, Mexico..
    Salam, Muhammad T.
    Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA USA.;Kern Med, Dept Psychiat, Bakersfield, CA USA..
    Salomaa, Veikko
    Natl Inst Hlth & Welf THL, Helsinki, Finland..
    Schlunssen, Vivi
    Aarhus Univ, Sect Environm Occupat & Hlth, Dept Publ Hlth, Aarhus, Denmark..
    Scott, Robert
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Selivanova, Polina A.
    Siberian State Med Univ, Dept Fac Therapy, Tomsk, Russia..
    Sigsgaard, Torben
    Aarhus Univ, Sect Environm Occupat & Hlth, Dept Publ Hlth, Aarhus, Denmark..
    Simpson, Angela
    Univ Manchester, Div Infect Immun & Resp Med, Sch Biol Sci, Fac Biol Med & Hlth,Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England.;Natl Hlth Serv NHS Fdn Trust, Univ Hosp South Manchester, Manchester, Lancs, England..
    Siroux, Valerie
    INSERM, Inst Adv Biosci, Team Environm Epidemiol Appl Reprod & Resp Hlth, U1209, Grenoble, France.;Univ Grenoble Alpes, CNRS, UMR5309, Inst Adv Biosci,Team Environm Epidemiol Appl Repr, Grenoble, France..
    Smith, Lewis J.
    Northwestern Univ, Div Pulm & Crit Care Med, Feinberg Sch Med, Chicago, IL 60611 USA..
    Solodilova, Maria
    Kursk State Med Univ, Dept Biol Med Genet & Ecol, Kursk, Russia..
    Standl, Marie
    Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Epidemiol 1, Neuherberg, Germany..
    Stefansson, Kari
    Amgen Inc, deCODE Genet, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Strachan, David P.
    St Georges Univ London, Populat Hlth Res Inst, London, England..
    Stricker, Bruno H.
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands.;Netherlands Healthcare Inspectorate, The Hague, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    Takahashi, Atsushi
    RIKEN Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan..
    Thompson, Philip J.
    Univ Western Australia, Inst Resp Hlth, Nedlands, WA, Australia.;Univ Western Australia, Harry Perkins Inst Med Res, Nedlands, WA, Australia.;Lung Hlth Clin, Nedlands, WA, Australia..
    Thorleifsson, Gudmar
    Amgen Inc, deCODE Genet, Reykjavik, Iceland..
    Thorsteinsdottir, Unnur
    Amgen Inc, deCODE Genet, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Tiesler, Carla M. T.
    Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Epidemiol 1, Neuherberg, Germany.;Ludwig Maximilians Univ Munchen, Dr von Hauner Childrens Hosp, Div Metab Dis & Nutrit Med, Munich, Germany..
    Torgerson, Dara G.
    Univ Calif San Francisco, Dept Med, San Francisco, CA USA..
    Tsunoda, Tatsuhiko
    RIKEN Ctr Integrat Med Sci, Yokohama, Kanagawa, Japan.;Tokyo Med & Dent Univ, Dept Med Sci Math, Med Res Inst, Tokyo, Japan..
    Uitterlinden, Andre G.
    Univ Med Ctr Rotterdam, Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    van der Valk, Ralf J. P.
    Univ Med Ctr Rotterdam, Erasmus MC, Generat R Study Grp, Dept Pediat,Div Resp Med, Rotterdam, Netherlands.;Univ Med Ctr Rotterdam, Erasmus MC, Dept Epidemiol, Rotterdam, Netherlands..
    Vaysse, Amaury
    INSERM, UMR 946, Genet Variat & Human Dis Unit, Paris, France.;Univ Paris Diderot, Univ Sorbonne Paris Cite, Inst Univ Hematol, Paris, France..
    Vedantam, Sailaja
    Childrens Hosp, Div Genet & Endocrinol, 300 Longwood Ave, Boston, MA 02115 USA.;Broad Inst, Cambridge, MA USA..
    von Berg, Andrea
    Marien Hosp Wesel, Dept Pediat, Wesel, Germany..
    von Mutius, Erika
    Ludwig Maximilians Univ Munchen, Dr Von Hauner Childrens Hosp, Munich, Germany.;German Ctr Lung Res, Munich, Germany..
    Vonk, Judith M.
    Groningen Res Inst Asthma & COPD GRIAC, Groningen, Netherlands.;Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Waage, Johannes
    Univ Copenhagen, Herlev & Gentofte Hosp, Copenhagen Prospect Studies Asthma Childhood, Copenhagen, Denmark..
    Wareham, Nick J.
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Weiss, Scott T.
    Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    White, Wendy B.
    Tougaloo Coll, UTEC, Jackson Heart Study, Jackson, MI USA..
    Wickman, Magnus
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, Centrum för klinisk forskning i Sörmland (CKFD). Karolinska Inst, Inst Environm Med, Stockholm, Sweden..
    Widen, Elisabeth
    Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland..
    Willemsen, Gonneke
    Vrjie Univ, Amsterdam Publ Hlth Res Inst, Dept Biol Psychol, Amsterdam, Netherlands..
    Williams, L. Keoki
    Henry Ford Hlth Syst, Ctr Hlth Policy & Hlth Serv Res, Detroit, MI USA.;Henry Ford Hlth Syst, Dept Internal Med, Detroit, MI USA..
    Wouters, Inge M.
    Univ Utrecht, Inst Risk Assessment Sci, Div Environm Epidemiol, Utrecht, Netherlands..
    Yang, James J.
    Univ Michigan, Sch Nursing, Ann Arbor, MI 48109 USA..
    Zhao, Jing Hua
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Moffatt, Miriam F.
    Natl Heart & Lung Inst, Sect Genom Med, London, England..
    Ober, Carole
    Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA..
    Nicolae, Dan L.
    Univ Chicago, Dept Stat, Med Genet Sect, Chicago, IL 60637 USA.;Univ Chicago, Dept Human Genet, Med Genet Sect, Chicago, IL 60637 USA.;Univ Chicago, Dept Med, Med Genet Sect, Chicago, IL 60637 USA..
    Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks2018In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 50, no 1, p. 42-+Article in journal (Refereed)
    Abstract [en]

    We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 asthma cases, 118,538 controls) of individuals from ethnically diverse populations. We identified five new asthma loci, found two new associations at two known asthma loci, established asthma associations at two loci previously implicated in the comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. The enrichment in enhancer marks at asthma risk loci, especially in immune cells, suggested a major role of these loci in the regulation of immunologically related mechanisms.

  • 28.
    den Hoed, Marcel
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Eijgelsheim, Mark
    Esko, Tonu
    Brundel, Bianca J. J. M.
    Peal, David S.
    Evans, David M.
    Nolte, Ilja M.
    Segre, Ayellet V.
    Holm, Hilma
    Handsaker, Robert E.
    Westra, Harm-Jan
    Johnson, Toby
    Isaacs, Aaron
    Yang, Jian
    Lundby, Alicia
    Zhao, Jing Hua
    Kim, Young Jin
    Go, Min Jin
    Almgren, Peter
    Bochud, Murielle
    Boucher, Gabrielle
    Cornelis, Marilyn C.
    Gudbjartsson, Daniel
    Hadley, David
    van der Harst, Pim
    Hayward, Caroline
    den Heijer, Martin
    Igl, Wilmar
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Jackson, Anne U.
    Kutalik, Zoltan
    Luan, Jian'an
    Kemp, John P.
    Kristiansson, Kati
    Ladenvall, Claes
    Lorentzon, Mattias
    Montasser, May E.
    Njajou, Omer T.
    O'Reilly, Paul F.
    Padmanabhan, Sandosh
    Pourcain, Beate St.
    Rankinen, Tuomo
    Salo, Perttu
    Tanaka, Toshiko
    Timpson, Nicholas J.
    Vitart, Veronique
    Waite, Lindsay
    Wheeler, William
    Zhang, Weihua
    Draisma, Harmen H. M.
    Feitosa, Mary F.
    Kerr, Kathleen F.
    Lind, Penelope A.
    Mihailov, Evelin
    Onland-Moret, N. Charlotte
    Song, Ci
    Weedon, Michael N.
    Xie, Weijia
    Yengo, Loic
    Absher, Devin
    Albert, Christine M.
    Alonso, Alvaro
    Arking, Dan E.
    de Bakker, Paul I. W.
    Balkau, Beverley
    Barlassina, Cristina
    Benaglio, Paola
    Bis, Joshua C.
    Bouatia-Naji, Nabila
    Brage, Soren
    Chanock, Stephen J.
    Chines, Peter S.
    Chung, Mina
    Darbar, Dawood
    Dina, Christian
    Doerr, Marcus
    Elliott, Paul
    Felix, Stephan B.
    Fischer, Krista
    Fuchsberger, Christian
    de Geus, Eco J. C.
    Goyette, Philippe
    Gudnason, Vilmundur
    Harris, Tamara B.
    Hartikainen, Anna-Liisa
    Havulinna, Aki S.
    Heckbert, Susan R.
    Hicks, Andrew A.
    Hofman, Albert
    Holewijn, Suzanne
    Hoogstra-Berends, Femke
    Hottenga, Jouke-Jan
    Jensen, Majken K.
    Johansson, Asa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Junttila, Juhani
    Kaeaeb, Stefan
    Kanon, Bart
    Ketkar, Shamika
    Khaw, Kay-Tee
    Knowles, Joshua W.
    Kooner, Angrad S.
    Kors, Jan A.
    Kumari, Meena
    Milani, Lili
    Laiho, Paeivi
    Lakatta, Edward G.
    Langenberg, Claudia
    Leusink, Maarten
    Liu, Yongmei
    Luben, Robert N.
    Lunetta, Kathryn L.
    Lynch, Stacey N.
    Markus, Marcello R. P.
    Marques-Vidal, Pedro
    Leach, Irene Mateo
    McArdle, Wendy L.
    McCarroll, Steven A.
    Medland, Sarah E.
    Miller, Kathryn A.
    Montgomery, Grant W.
    Morrison, Alanna C.
    Mueller-Nurasyid, Martina
    Navarro, Pau
    Nelis, Mari
    O'Connell, Jeffrey R.
    O'Donnell, Christopher J.
    Ong, Ken K.
    Newman, Anne B.
    Peters, Annette
    Polasek, Ozren
    Pouta, Anneli
    Pramstaller, Peter P.
    Psaty, Bruce M.
    Rao, Dabeeru C.
    Ring, Susan M.
    Rossin, Elizabeth J.
    Rudan, Diana
    Sanna, Serena
    Scott, Robert A.
    Sehmi, Jaban S.
    Sharp, Stephen
    Shin, Jordan T.
    Singleton, Andrew B.
    Smith, Albert V.
    Soranzo, Nicole
    Spector, Tim D.
    Stewart, Chip
    Stringham, Heather M.
    Tarasov, Kirill V.
    Uitterlinden, Andre G.
    Vandenput, Liesbeth
    Hwang, Shih-Jen
    Whitfield, John B.
    Wijmenga, Cisca
    Wild, Sarah H.
    Willemsen, Gonneke
    Wilson, James F.
    Witteman, Jacqueline C. M.
    Wong, Andrew
    Wong, Quenna
    Jamshidi, Yalda
    Zitting, Paavo
    Boer, Jolanda M. A.
    Boomsma, Dorret I.
    Borecki, Ingrid B.
    van Duijn, Cornelia M.
    Ekelund, Ulf
    Forouhi, Nita G.
    Froguel, Philippe
    Hingorani, Aroon
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Kivimaki, Mika
    Kronmal, Richard A.
    Kuh, Diana
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Martin, Nicholas G.
    Oostra, Ben A.
    Pedersen, Nancy L.
    Quertermous, Thomas
    Rotter, Jerome I.
    van der Schouw, Yvonne T.
    Verschuren, W. M. Monique
    Walker, Mark
    Albanes, Demetrius
    Arnar, David O.
    Assimes, Themistocles L.
    Bandinelli, Stefania
    Boehnke, Michael
    de Boer, Rudolf A.
    Bouchard, Claude
    Caulfield, W. L. Mark
    Chambers, John C.
    Curhan, Gary
    Cusi, Daniele
    Eriksson, Johan
    Ferrucci, Luigi
    van Gilst, Wiek H.
    Glorioso, Nicola
    de Graaf, Jacqueline
    Groop, Leif
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics.
    Hsueh, Wen-Chi
    Hu, Frank B.
    Huikuri, Heikki V.
    Hunter, David J.
    Iribarren, Carlos
    Isomaa, Bo
    Jarvelin, Marjo-Riitta
    Jula, Antti
    Kahonen, Mika
    Kiemeney, Lambertus A.
    van der Klauw, Melanie M.
    Kooner, Jaspal S.
    Kraft, Peter
    Iacoviello, Licia
    Lehtimaki, Terho
    Lokki, Marja-Liisa L.
    Mitchell, Braxton D.
    Navis, Gerjan
    Nieminen, Markku S.
    Ohlsson, Claes
    Poulter, Neil R.
    Qi, Lu
    Raitakari, Olli T.
    Rimm, Eric B.
    Rioux, John D.
    Rizzi, Federica
    Rudan, Igor
    Salomaa, Veikko
    Sever, Peter S.
    Shields, Denis C.
    Shuldiner, Alan R.
    Sinisalo, Juha
    Stanton, Alice V.
    Stolk, Ronald P.
    Strachan, David P.
    Tardif, Jean-Claude
    Thorsteinsdottir, Unnur
    Tuomilehto, Jaako
    van Veldhuisen, Dirk J.
    Virtamo, Jarmo
    Viikari, Jorma
    Vollenweider, Peter
    Waeber, Gerard
    Widen, Elisabeth
    Cho, Yoon Shin
    Olsen, Jesper V.
    Visscher, Peter M.
    Willer, Cristen
    Franke, Lude
    Erdmann, Jeanette
    Thompson, John R.
    Pfeufer, Arne
    Sotoodehnia, Nona
    Newton-Cheh, Christopher
    Ellinor, Patrick T.
    Stricker, Bruno H. Ch
    Metspalu, Andres
    Perola, Markus
    Beckmann, Jacques S.
    Smith, George Davey
    Stefansson, Kari
    Wareham, Nicholas J.
    Munroe, Patricia B.
    Sibon, Ody C. M.
    Milan, David J.
    Snieder, Harold
    Samani, Nilesh J.
    Loos, Ruth J. F.
    Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 6, p. 621-+Article in journal (Refereed)
    Abstract [en]

    Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and reduced risk of sick sinus syndrome, and both heart rate-increasing and heart rate-decreasing variants associate with risk of atrial fibrillation. Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets.

  • 29. Do, Ron
    et al.
    Willer, Cristen J.
    Schmidt, Ellen M.
    Sengupta, Sebanti
    Gao, Chi
    Peloso, Gina M.
    Gustafsson, Stefan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Kanoni, Stavroula
    Ganna, Andrea
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Chen, Jin
    Buchkovich, Martin L.
    Mora, Samia
    Beckmann, Jacques S.
    Bragg-Gresham, Jennifer L.
    Chang, Hsing-Yi
    Demirkan, Ayse
    Den Hertog, Heleen M.
    Donnelly, Louise A.
    Ehret, Georg B.
    Esko, Tonu
    Feitosa, Mary F.
    Ferreira, Teresa
    Fischer, Krista
    Fontanillas, Pierre
    Fraser, Ross M.
    Freitag, Daniel F.
    Gurdasani, Deepti
    Heikkila, Kauko
    Hyppoenen, Elina
    Isaacs, Aaron
    Jackson, Anne U.
    Johansson, Åsa
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Johnson, Toby
    Kaakinen, Marika
    Kettunen, Johannes
    Kleber, Marcus E.
    Li, Xiaohui
    Luan, Jian'an
    Lyytikainen, Leo-Pekka
    Magnusson, Patrik K. E.
    Mangino, Massimo
    Mihailov, Evelin
    Montasser, May E.
    Mueller-Nurasyid, Martina
    Nolte, Ilja M.
    O'Connell, Jeffrey R.
    Palmer, Cameron D.
    Perola, Markus
    Petersen, Ann-Kristin
    Sanna, Serena
    Saxena, Richa
    Service, Susan K.
    Shah, Sonia
    Shungin, Dmitry
    Sidore, Carlo
    Song, Ci
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Strawbridge, Rona J.
    Surakka, Ida
    Tanaka, Toshiko
    Teslovich, Tanya M.
    Thorleifsson, Gudmar
    Van den Herik, Evita G.
    Voight, Benjamin F.
    Volcik, Kelly A.
    Waite, Lindsay L.
    Wong, Andrew
    Wu, Ying
    Zhang, Weihua
    Absher, Devin
    Asiki, Gershim
    Barroso, Ines
    Been, Latonya F.
    Bolton, Jennifer L.
    Bonnycastle, Lori L.
    Brambilla, Paolo
    Burnett, Mary S.
    Cesana, Giancarlo
    Dimitriou, Maria
    Doney, Alex S. F.
    Doering, Angela
    Elliott, Paul
    Epstein, Stephen E.
    Eyjolfsson, Gudmundur Ingi
    Gigante, Bruna
    Goodarzi, Mark O.
    Grallert, Harald
    Gravito, Martha L.
    Groves, Christopher J.
    Hallmans, Goran
    Hartikainen, Anna-Liisa
    Hayward, Caroline
    Hernandez, Dena
    Hicks, Andrew A.
    Holm, Hilma
    Hung, Yi-Jen
    Illig, Thomas
    Jones, Michelle R.
    Kaleebu, Pontiano
    Kastelein, John J. P.
    Khaw, Kay-Tee
    Kim, Eric
    Klopp, Norman
    Komulainen, Pirjo
    Kumari, Meena
    Langenberg, Claudia
    Lehtimaki, Terho
    Lin, Shih-Yi
    Lindstrom, Jaana
    Loos, Ruth J. F.
    Mach, Francois
    McArdle, Wendy L.
    Meisinger, Christa
    Mitchell, Braxton D.
    Mueller, Gabrielle
    Nagaraja, Ramaiah
    Narisu, Narisu
    Nieminen, Tuomo V. M.
    Nsubuga, Rebecca N.
    Olafsson, Isleifur
    Ong, Ken K.
    Palotie, Aarno
    Papamarkou, Theodore
    Pomilla, Cristina
    Pouta, Anneli
    Rader, Daniel J.
    Reilly, Muredach P.
    Ridker, Paul M.
    Rivadeneira, Fernando
    Rudan, Igor
    Ruokonen, Aimo
    Samani, Nilesh
    Scharnagl, Hubert
    Seeley, Janet
    Silander, Kaisa
    Stancakova, Alena
    Stirrups, Kathleen
    Swift, Amy J.
    Tiret, Laurence
    Uitterlinden, Andre G.
    van Pelt, L. Joost
    Vedantam, Sailaja
    Wainwright, Nicholas
    Wijmenga, Cisca
    Wild, Sarah H.
    Willemsen, Gonneke
    Wilsgaard, Tom
    Wilson, James F.
    Young, Elizabeth H.
    Zhao, Jing Hua
    Adair, Linda S.
    Arveiler, Dominique
    Assimes, Themistocles L.
    Bandinelli, Stefania
    Bennett, Franklyn
    Bochud, Murielle
    Boehm, Bernhard O.
    Boomsma, Dorret I.
    Borecki, Ingrid B.
    Bornstein, Stefan R.
    Bovet, Pascal
    Burnier, Michel
    Campbell, Harry
    Chakravarti, Aravinda
    Chambers, John C.
    Chen, Yii-Der Ida
    Collins, Francis S.
    Cooper, Richard S.
    Danesh, John
    Dedoussis, George
    de Faire, Ulf
    Feranil, Alan B.
    Ferrieres, Jean
    Ferrucci, Luigi
    Freimer, Nelson B.
    Gieger, Christian
    Groop, Leif C.
    Gudnason, Vilmundur
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Genomics. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Hamsten, Anders
    Harris, Tamara B.
    Hingorani, Aroon
    Hirschhorn, Joel N.
    Hofman, Albert
    Hovingh, G. Kees
    Hsiung, Chao Agnes
    Humphries, Steve E.
    Hunt, Steven C.
    Hveem, Kristian
    Iribarren, Carlos
    Jarvelin, Marjo-Riitta
    Jula, Antti
    Kahonen, Mika
    Kaprio, Jaakko
    Kesaniemi, Antero
    Kivimaki, Mika
    Kooner, Jaspal S.
    Koudstaal, Peter J.
    Krauss, Ronald M.
    Kuh, Diana
    Kuusisto, Johanna
    Kyvik, Kirsten O.
    Laakso, Markku
    Lakka, Timo A.
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Lindgren, Cecilia M.
    Martin, Nicholas G.
    Maerz, Winfried
    McCarthy, Mark I.
    McKenzie, Colin A.
    Meneton, Pierre
    Metspalu, Andres
    Moilanen, Leena
    Morris, Andrew D.
    Munroe, Patricia B.
    Njolstad, Inger
    Pedersen, Nancy L.
    Power, Chris
    Pramstaller, Peter P.
    Price, Jackie F.
    Psaty, Bruce M.
    Quertermous, Thomas
    Rauramaa, Rainer
    Saleheen, Danish
    Salomaa, Veikko
    Sanghera, Dharambir K.
    Saramies, Jouko
    Schwarz, Peter E. H.
    Sheu, Wayne H-H
    Shuldiner, Alan R.
    Siegbahn, Agneta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Coagulation and inflammation science.
    Spector, Tim D.
    Stefansson, Kari
    Strachan, David P.
    Tayo, Bamidele O.
    Tremoli, Elena
    Tuomilehto, Jaakko
    Uusitupa, Matti
    van Duijn, Cornelia M.
    Vollenweider, Peter
    Wallentin, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiology.
    Wareham, Nicholas J.
    Whitfield, John B.
    Wolffenbuttel, Bruce H. R.
    Altshuler, David
    Ordovas, Jose M.
    Boerwinkle, Eric
    Palmer, Colin N. A.
    Thorsteinsdottir, Unnur
    Chasman, Daniel I.
    Rotter, Jerome I.
    Franks, Paul W.
    Ripatti, Samuli
    Cupples, L. Adrienne
    Sandhu, Manjinder S.
    Rich, Stephen S.
    Boehnke, Michael
    Deloukas, Panos
    Mohlke, Karen L.
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Abecasis, Goncalo R.
    Daly, Mark J.
    Neale, Benjamin M.
    Kathiresan, Sekar
    Common variants associated with plasma triglycerides and risk for coronary artery disease2013In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 45, no 11, p. 1345-+Article in journal (Refereed)
    Abstract [en]

    Triglycerides are transported in plasma by specific triglyceride-rich lipoproteins; in epidemiological studies, increased triglyceride levels correlate with higher risk for coronary artery disease (CAD). However, it is unclear whether this association reflects causal processes. We used 185 common variants recently mapped for plasma lipids (P < 5 x 10(-8) for each) to examine the role of triglycerides in risk for CAD. First, we highlight loci associated with both low-density lipoprotein cholesterol (LDL-C) and triglyceride levels, and we show that the direction and magnitude of the associations with both traits are factors in determining CAD risk. Second, we consider loci with only a strong association with triglycerides and show that these loci are also associated with CAD. Finally, in a model accounting for effects on LDL-C and/or high-density lipoprotein cholesterol (HDL-C) levels, the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk. These results suggest that triglyceride-rich lipoproteins causally influence risk for CAD.

  • 30.
    Draptchinskaia, Natalia
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Gustavsson, Peter
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Andersson, Björn
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Pettersson, Monica
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Willig, Thiébaut-Noël
    Dianzani, Irma
    Ball, Sarah
    Tchernia, Gil
    Klar, Joakim
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Matsson, Hans
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Tentler, Dimitri
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Mohandas, Narla
    Carlsson, Birgit
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    Dahl, Niklas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
    The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia1999In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 21, no 2, p. 169-75Article in journal (Refereed)
    Abstract [en]

    Diamond-Blackfan anaemia (DBA) is a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors. The disease, previously mapped to human chromosome 19q13, is frequently associated with a variety of malformations. To identify the gene involved in DBA, we cloned the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation. The breakpoint occurred in the gene encoding ribosomal protein S19. Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions. These mutations are associated with clinical features that suggest a function for RPS19 in erythropoiesis and embryogenesis.

  • 31.
    Dunning, Alison M.
    et al.
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Michailidou, Kyriaki
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Kuchenbaecker, Karoline B.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Thompson, Deborah
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    French, Juliet D.
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Beesley, Jonathan
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Healey, Catherine S.
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Kar, Siddhartha
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Pooley, Karen A.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Lopez-Knowles, Elena
    Breakthrough Breast Canc Res Ctr, Breast Canc Res, London, England.;Royal Marsden Hosp, Acad Biochem, London SW3 6JJ, England..
    Dicks, Ed
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Barrowdale, Daniel
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Sinnott-Armstrong, Nicholas A.
    Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA..
    Sallari, Richard C.
    MIT, Comp Sci & Artificial Intelligence Lab, 77 Massachusetts Ave, Cambridge, MA 02139 USA..
    Hillman, Kristine M.
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Kaufmann, Susanne
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Sivakumaran, Haran
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Marjaneh, Mahdi Moradi
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Lee, Jason S.
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Hills, Margaret
    Royal Marsden Hosp, Acad Biochem, London SW3 6JJ, England..
    Jarosz, Monika
    Breakthrough Breast Canc Res Ctr, Breast Canc Res, London, England.;Royal Marsden Hosp, Acad Biochem, London SW3 6JJ, England..
    Drury, Suzie
    Breakthrough Breast Canc Res Ctr, Breast Canc Res, London, England.;Royal Marsden Hosp, Acad Biochem, London SW3 6JJ, England..
    Canisius, Sander
    Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands..
    Bolla, Manjeet K.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Dennis, Joe
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Wang, Qin
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Hopper, John L.
    Univ Melbourne, Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia..
    Southey, Melissa C.
    Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia..
    Broeks, Annegien
    Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands..
    Schmidt, Marjanka K.
    Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Amsterdam, Netherlands..
    Lophatananon, Artitaya
    Univ Warwick, Warwick Med Sch, Div Hlth Sci, Coventry CV4 7AL, W Midlands, England..
    Muir, Kenneth
    Univ Warwick, Warwick Med Sch, Div Hlth Sci, Coventry CV4 7AL, W Midlands, England.;Univ Manchester, Inst Populat Hlth, Manchester, Lancs, England..
    Beckmann, Matthias W.
    Univ Erlangen Nurnberg, Univ Hosp Erlangen, Dept Gynecol & Obstet, Comprehens Canc Ctr Erlangen Nuremberg Metropolit, D-91054 Erlangen, Germany..
    Fasching, Peter A.
    Univ Erlangen Nurnberg, Univ Hosp Erlangen, Dept Gynecol & Obstet, Comprehens Canc Ctr Erlangen Nuremberg Metropolit, D-91054 Erlangen, Germany.;Univ Calif Los Angeles, David Geffen Sch Med, Div Hematol & Oncol, Dept Med, Los Angeles, CA 90095 USA..
    dos-Santos-Silva, Isabel
    London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1, England..
    Peto, Julian
    London Sch Hyg & Trop Med, Dept Noncommunicable Dis Epidemiol, London WC1, England..
    Sawyer, Elinor J.
    Kings Coll London, Guys Hosp, Div Canc Studies, Res Oncol, London, England..
    Tomlinson, Ian
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Oxford Biomed Res Ctr, Oxford, England..
    Burwinkel, Barbara
    German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany.;German Canc Res Ctr, Mol Epidemiol Grp, Heidelberg, Germany..
    Marme, Frederik
    Heidelberg Univ, Natl Ctr Tumor Dis, Heidelberg, Germany.;Heidelberg Univ, Dept Obstet & Gynecol, Heidelberg, Germany..
    Guenel, Pascal
    INSERM, Ctr Res Epidemiol & Populat Hlth, Environm Epidemiol Canc, Villejuif, France.;Univ Paris Sud, Villejuif, France..
    Truong, Therese
    INSERM, Ctr Res Epidemiol & Populat Hlth, Environm Epidemiol Canc, Villejuif, France.;Univ Paris Sud, Villejuif, France..
    Bojesen, Stig E.
    Copenhagen Univ Hosp, Herlev Hosp, Copenhagen Gen Populat Study, Herlev, Denmark.;Copenhagen Univ Hosp, Herlev Hosp, Dept Clin Biochem, Herlev, Denmark.;Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark..
    Flyger, Henrik
    Copenhagen Univ Hosp, Herlev Hosp, Dept Breast Surg, Herlev, Denmark..
    Gonzalez-Neira, Anna
    Spanish Natl Canc Ctr CNIO, Human Canc Genet Program, Madrid, Spain..
    Perez, Jose I. A.
    Hosp Monte Naranco, Serv Cirugia Gen & Especialidades, Oviedo, Spain..
    Anton-Culver, Hoda
    Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA..
    Eunjung, Lee
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Arndt, Volker
    German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany..
    Brenner, Hermann
    German Canc Res Ctr, Div Clin Epidemiol & Aging Res, Heidelberg, Germany.;German Canc Res Ctr, German Canc Consortium, Heidelberg, Germany..
    Meindl, Alfons
    Tech Univ Munich, Dept Obstet & Gynaecol, D-80290 Munich, Germany..
    Schmutzler, Rita K.
    Univ Hosp Cologne, Dept Obstet & Gynaecol, Div Mol Gynecooncol, Cologne, Germany.;Univ Hosp Cologne, Ctr Familial Breast & Ovarian Canc, Cologne, Germany.;Univ Hosp, Ctr Integrated Oncol, Cologne, Germany..
    Brauch, Hiltrud
    German Canc Res Ctr, German Canc Consortium, Heidelberg, Germany.;Dr Margarete Fischer Bosch Inst Clin Pharmacol, Auerbachstr 112, Stuttgart, Germany.;Univ Tubingen, Tubingen, Germany..
    Hamann, Ute
    German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany..
    Aittomaki, Kristiina
    Helsinki Univ Cent Hosp, Dept Clin Genet, Helsinki, Finland..
    Blomqvist, Carl
    Univ Helsinki, Helsinki Univ Cent Hosp, Dept Oncol, Helsinki, Finland..
    Ito, Hidemi
    Aichi Canc Ctr Res Inst, Div Epidemiol & Prevent, Aichi, Japan..
    Matsuo, Keitaro
    Aichi Canc Ctr Res Inst, Div Mol Med, Nagoya, Aichi, Japan..
    Bogdanova, Natasha
    Hannover Med Sch, Radiat Oncol Res Unit, Hannover, Germany..
    Dork, Thilo
    Hannover Med Sch, Gynaecol Res Unit, Hannover, Germany..
    Lindblom, Annika
    Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden..
    Margolin, Sara
    Karolinska Univ Hosp, Dept Oncol Pathol, Stockholm, Sweden..
    Kosma, Veli-Matti
    Kuopio Univ Hosp, Ctr Canc, SF-70210 Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, SF-70210 Kuopio, Finland..
    Mannermaa, Arto
    Kuopio Univ Hosp, Ctr Canc, SF-70210 Kuopio, Finland.;Univ Eastern Finland, Inst Clin Med Pathol & Forens Med, Kuopio, Finland.;Kuopio Univ Hosp, Dept Clin Pathol, Imaging Ctr, SF-70210 Kuopio, Finland..
    Tseng, Chiu-chen
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Wu, Anna H.
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Lambrechts, Diether
    Vesalius Res Ctr, Leuven, Belgium.;Univ Leuven, Dept Oncol, Lab Translat Genet, Leuven, Belgium..
    Wildiers, Hans
    Univ Hosp Leuven, Dept Gen Med Oncol, Multidisciplinary Breast Ctr, Leuven, Belgium..
    Chang-Claude, Jenny
    German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany.;Univ Med Ctr Hamburg Eppendorf, UCCH, Hamburg, Germany..
    Rudolph, Anja
    German Canc Res Ctr, Div Canc Epidemiol, Heidelberg, Germany..
    Peterlongo, Paolo
    Fdn Ist FIRC Oncol Mol, IFOM, Milan, Italy..
    Radice, Paolo
    Fdn IRCCS Ist Nazl Tumori, Dept Prevent & Predict Med, Unit Mol Basis Genet Risk & Genet Testing, Milan, Italy..
    Olson, Janet E.
    Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA..
    Giles, Graham G.
    Univ Melbourne, Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia.;Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia..
    Milne, Roger L.
    Univ Melbourne, Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia.;Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia..
    Haiman, Christopher A.
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Henderson, Brian E.
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Goldberg, Mark S.
    McGill Univ, Dept Med, Montreal, PQ, Canada.;McGill Univ, Royal Victoria Hosp, Div Clin Epidemiol, Montreal, PQ H3A 1A1, Canada..
    Teo, Soo H.
    Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia.;Univ Malaya, Med Ctr, Canc Res Inst, Breast Canc Res Unit, Kuala Lumpur, Malaysia..
    Yip, Cheng Har
    Univ Malaya, Med Ctr, Canc Res Inst, Breast Canc Res Unit, Kuala Lumpur, Malaysia..
    Nord, Silje
    Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway..
    Borresen-Dale, Anne-Lise
    Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway.;Univ Oslo, Inst Clin Med, Oslo, Norway..
    Kristensen, Vessela
    Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway.;Univ Oslo, Inst Clin Med, Oslo, Norway.;Univ Oslo, Oslo Univ Hosp, Dept Clin Mol Biol, Oslo, Norway..
    Long, Jirong
    Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA..
    Zheng, Wei
    Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA..
    Pylkas, Katri
    Univ Oulu, NordLab Oulu Univ Hosp, Dept Clin Chem, Lab Canc Genet & Tumor Biol, Oulu, Finland.;Univ Oulu, NordLab Oulu Univ Hosp, Bioctr Oulu, Oulu, Finland.;Northern Finland Lab Ctr NordLab, Lab Canc Genet & Tumor Biol, Oulu, Finland..
    Winqvist, Robert
    Univ Oulu, NordLab Oulu Univ Hosp, Dept Clin Chem, Lab Canc Genet & Tumor Biol, Oulu, Finland.;Univ Oulu, NordLab Oulu Univ Hosp, Bioctr Oulu, Oulu, Finland.;Northern Finland Lab Ctr NordLab, Lab Canc Genet & Tumor Biol, Oulu, Finland..
    Andrulis, Irene L.
    Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada.;Univ Toronto, Dept Mol Genet, Toronto, ON, Canada..
    Knight, Julia A.
    Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Prosserman Ctr Hlth Res, Toronto, ON M5G 1X5, Canada.;Univ Toronto, Dalla Lana Sch Publ Hlth, Div Epidemiol, Toronto, ON, Canada..
    Devilee, Peter
    Leiden Univ Med Ctr, Dept Pathol, Leiden, Netherlands.;Leiden Univ Med Ctr, Dept Human Genet, Leiden, Netherlands..
    Seynaeve, Caroline
    Erasmus MC, Dept Med Oncol, Rotterdam, Netherlands..
    Figueroa, Jonine
    NCI, Div Canc Epidemiol & Genet, Rockville, MD USA..
    Sherman, Mark E.
    NCI, Div Canc Epidemiol & Genet, Rockville, MD USA..
    Czene, Kamila
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Darabi, Hatef
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Hollestelle, Antoinette
    Erasmus MC, Dept Med Oncol, Rotterdam, Netherlands..
    van den Ouweland, Ans M. W.
    Erasmus MC, Dept Clin Genet, Rotterdam, Netherlands..
    Humphreys, Keith
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Gao, Yu-Tang
    Shanghai Canc Inst, Dept Epidemiol, Shanghai, Peoples R China..
    Shu, Xiao-Ou
    Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA..
    Cox, Angela
    Univ Sheffield, Sheffield Canc Res, Dept Oncol, Sheffield, S Yorkshire, England..
    Cross, Simon S.
    Univ Sheffield, Dept Neurosci, Acad Unit Pathol, Sheffield, S Yorkshire, England..
    Blot, William
    Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA.;Int Epidemiol Inst, Rockville, MD USA..
    Cai, Qiuyin
    Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Div Epidemiol,Dept Med, Nashville, TN 37212 USA..
    Ghoussaini, Maya
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Perkins, Barbara J.
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Shah, Mitul
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England..
    Choi, Ji-Yeob
    Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea.;Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea..
    Kang, Daehee
    Natl Univ Hlth Syst, Dept Haematol Oncol, Singapore, Singapore.;Natl Univ Singapore, Canc Sci Inst Singapore, Singapore 117548, Singapore..
    Lee, Soo Chin
    Natl Univ Hlth Syst, Dept Haematol Oncol, Singapore, Singapore.;Natl Univ Singapore, Canc Sci Inst Singapore, Singapore 117548, Singapore..
    Hartman, Mikael
    Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore 117548, Singapore.;Natl Univ Hlth Syst, Dept Surg, Singapore, Singapore..
    Kabisch, Maria
    German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany..
    Torres, Diana
    German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany.;Pontificia Univ Javerianar, Inst Human Genet, Bogota, Colombia..
    Jakubowska, Anna
    Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland..
    Lubinski, Jan
    Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland..
    Brennan, Paul
    Int Agcy Res Canc, 150 Cours Albert Thomas, F-69372 Lyon, France..
    Sangrajrang, Suleeporn
    Natl Canc Inst, Bangkok, Thailand..
    Ambrosone, Christine B.
    Roswell Pk Canc Inst, Buffalo, NY 14263 USA..
    Toland, Amanda E.
    Ohio State Univ, Ctr Comprehens Canc, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA..
    Shen, Chen-Yang
    China Med Univ, Sch Publ Hlth, Taichung, Taiwan.;Acad Sinica, Inst Biomed Sci, Taiwan Biobank, Taipei, Taiwan..
    Wu, Pei-Ei
    Acad Sinica, Inst Biomed Sci, Taiwan Biobank, Taipei, Taiwan..
    Orr, Nick
    Inst Canc Res, Breakthrough Breast Canc Res Ctr, Div Canc Studies, London SW3 6JB, England..
    Swerdlow, Anthony
    Inst Canc Res, Div Genet & Epidemiol, London SW3 6JB, England.;Inst Canc Res, Div Breast Canc Res, London SW3 6JB, England..
    McGuffog, Lesley
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Healey, Sue
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Lee, Andrew
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Kapuscinski, Miroslav
    Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne, Vic, Australia..
    John, Esther M.
    Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA USA..
    Terry, Mary Beth
    Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, New York, NY USA..
    Daly, Mary B.
    Fox Chase Canc Ctr, Dept Clin Genet, 7701 Burholme Ave, Philadelphia, PA 19111 USA..
    Goldgar, David E.
    Univ Utah, Sch Med, Dept Dermatol, Huntsman Canc Inst, Salt Lake City, UT USA..
    Buys, Saundra S.
    Univ Utah, Sch Med, Dept Med, Huntsman Canc Inst, Salt Lake City, UT USA..
    Janavicius, Ramunas
    State Res Inst Ctr Innovat Med, Vilnius, Lithuania..
    Tihomirova, Laima
    Latvian Biomed Res & Study Ctr, Riga, Latvia..
    Tung, Nadine
    Beth Israel Deaconess Med Ctr, Dept Med Oncol, Boston, MA 02215 USA..
    Dorfling, Cecilia M.
    Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa..
    van Rensburg, Elizabeth J.
    Univ Pretoria, Dept Genet, ZA-0002 Pretoria, South Africa..
    Neuhausen, Susan L.
    Beckman Res Inst City Hope, Dept Populat Sci, Duarte, CA USA..
    Ejlertsen, Bent
    Copenhagen Univ Hosp, Rigshosp, Dept Oncol, Copenhagen, Denmark..
    Hansen, Thomas V. O.
    Copenhagen Univ Hosp, Rigshosp, Ctr Genom Med, Copenhagen, Denmark..
    Osorio, Ana
    Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain.;Biomed Network Rare Dis CIBERER, Madrid, Spain..
    Benitez, Javier
    Spanish Natl Canc Ctr CNIO, Human Genet Grp, Madrid, Spain.;Biomed Network Rare Dis CIBERER, Madrid, Spain.;Spanish Natl Canc Res Ctr CNIO, Human Canc Genet Program, Human Genotyping CEGEN Unit, Madrid, Spain..
    Rando, Rachel
    City Hope Clin Canc Genom Community Res Network, Duarte, CA USA..
    Weitzel, Jeffrey N.
    City Hope Natl Med Ctr, Clin Canc Genet, Duarte, CA USA..
    Bonanni, Bernardo
    Ist Europeo Oncol, Div Canc Prevent & Genet, Milan, Italy..
    Peissel, Bernard
    Ist Nazl Tumori, Fdn Ist Ricovero & Cura Carattere Sci, Dept Prevent & Predict Med, Unit Med Genet, Via Venezian 1, I-20133 Milan, Italy..
    Manoukian, Siranoush
    Ist Nazl Tumori, Fdn Ist Ricovero & Cura Carattere Sci, Dept Prevent & Predict Med, Unit Med Genet, Via Venezian 1, I-20133 Milan, Italy..
    Papi, Laura
    Univ Florence, Dept Biomed Expt & Clin Sci, Unit Med Genet, Florence, Italy..
    Ottini, Laura
    Univ Roma La Sapienza, Dept Mol Med, Piazzale Aldo Moro 5, I-00185 Rome, Italy..
    Konstantopoulou, Irene
    Aghia Paraskevi Attikis, Natl Ctr Sci Res Demokritos, INRASTES Inst Nucl & Radiol Sci & Technol, Mol Diagnost Lab, Athens, Greece..
    Apostolou, Paraskevi
    Aghia Paraskevi Attikis, Natl Ctr Sci Res Demokritos, INRASTES Inst Nucl & Radiol Sci & Technol, Mol Diagnost Lab, Athens, Greece..
    Garber, Judy
    Dana Farber Canc Inst, Canc Risk & Prevent Clin, Boston, MA 02115 USA..
    Rashid, Muhammad Usman
    German Canc Res Ctr, Mol Genet Breast Canc, Heidelberg, Germany.;Shaukat Khanum Mem Canc Hosp & Res Ctr, Dept Basic Sci, Lahore, Pakistan..
    Frost, Debra
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Izatt, Louise
    Guys & St Thomas Natl Hlth Serv NHS Fdn Trust, Clin Genet, London, England..
    Ellis, Steve
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Godwin, Andrew K.
    Univ Kansas, Med Ctr, Dept Pathol & Lab Med, Kansas City, KS 66103 USA..
    Arnold, Norbert
    Univ Kiel, Univ Hosp Schleswig Holstein, Dept Gynaecol & Obstet, Campus Kiel, Kiel, Germany..
    Niederacher, Dieter
    Univ Dusseldorf, Dusseldorf, Germany..
    Rhiem, Kerstin
    Univ Hosp Cologne, Ctr Mol Med Cologne, Dept Obstet & Gynaecol, Ctr Familial Breast & Ovarian Canc, Cologne, Germany.;Univ Hosp Cologne, Ctr Mol Med Cologne, Ctr Integrated Oncol, Cologne, Germany..
    Bogdanova-Markov, Nadja
    Univ Munster, Inst Human Genet, D-48149 Munster, Germany..
    Sagne, Charlotte
    Univ Lyon 1, CNRS UMR 5286, INSERM U1052, Ctr Rech Cancerol Lyon, F-69365 Lyon, France..
    Stoppa-Lyonnet, Dominique
    Inst Curie, Dept Tumour Biol, Paris, France.;Univ Paris 05, Sorbonne Paris Cite, Paris, France..
    Damiola, Francesca
    Univ Lyon 1, CNRS UMR 5286, INSERM U1052, Ctr Rech Cancerol Lyon, F-69365 Lyon, France..
    Sinilnikova, Olga M.
    Univ Lyon 1, CNRS UMR 5286, INSERM U1052, Ctr Rech Cancerol Lyon, F-69365 Lyon, France.;Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitutionnelle Canc Frequent, Lyon, France..
    Mazoyer, Sylvie
    Univ Lyon 1, CNRS UMR 5286, INSERM U1052, Ctr Rech Cancerol Lyon, F-69365 Lyon, France..
    Isaacs, Claudine
    Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC USA..
    Claes, Kathleen B. M.
    Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium..
    De Leeneer, Kim
    Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium..
    De la Hoya, Miguel
    Hosp Clin San Carlos, IdISSC, Mol Oncol Lab, Madrid, Spain..
    Caldes, Trinidad
    Hosp Clin San Carlos, IdISSC, Mol Oncol Lab, Madrid, Spain..
    Nevanlinna, Heli
    Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland.;Univ Helsinki, Cent Hosp, Helsinki, Finland..
    Khan, Sofia
    Univ Helsinki, Dept Obstet & Gynecol, Helsinki, Finland.;Univ Helsinki, Cent Hosp, Helsinki, Finland..
    Mensenkamp, Arjen R.
    Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands..
    Hooning, Maartje J.
    Erasmus Univ, Med Ctr, Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands..
    Rookus, Matti A.
    Netherlands Canc Inst, Dept Epidemiol, Amsterdam, Netherlands..
    Kwong, Ava
    Hong Kong Sanat & Hosp, Canc Genet Ctr, Hong Kong Hereditary Breast Canc Family Registry, Hong Kong, Hong Kong, Peoples R China.;Univ Hong Kong, Dept Surg, Hong Kong, Hong Kong, Peoples R China..
    Olah, Edith
    Natl Inst Oncol, Dept Mol Genet, Budapest, Hungary..
    Diez, Orland
    Vall dHebron Univ Hosp, VHIO, Oncogenet Lab, Barcelona, Spain..
    Brunet, Joan
    Catalan Inst Oncol, IDIBGI, Hereditary Canc Program, Genet Counseling Unit, Girona, Spain..
    Pujana, Miquel Angel
    Catalan Inst Oncol, IDIBELL Bellvitge Biomed Res Inst, Breast Canc & Syst Biol Unit, Barcelona, Spain..
    Gronwald, Jacek
    Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland..
    Huzarski, Tomasz
    Pomeranian Med Univ, Dept Genet & Pathol, Szczecin, Poland..
    Barkardottir, Rosa B.
    Univ Iceland, Fac Med, Landspitali Univ Hosp, Dept Pathol, Reykjavik, Iceland.;Univ Iceland, Fac Med, Biomed Ctr BMC, Reykjavik, Iceland..
    Laframboise, Rachel
    Ctr Hosp Univ Quebec, Div Med Genet, Quebec City, PQ, Canada.;Univ Laval, Quebec City, PQ, Canada..
    Soucy, Penny
    Univ Laval, Quebec City, PQ, Canada.;Ctr Hosp Univ Quebec, Quebec City, PQ, Canada..
    Montagna, Marco
    IRCCS, IOV, Immunol & Mol Oncol Unit, Padua, Italy..
    Agata, Simona
    IRCCS, IOV, Immunol & Mol Oncol Unit, Padua, Italy..
    Teixeira, Manuel R.
    Portuguese Oncol Inst, Dept Genet, Oporto, Portugal.;Univ Porto, Biomed Sci Inst ICBAS, Rua Campo Alegre 823, P-4100 Oporto, Portugal..
    Park, Sue Kyung
    Seoul Natl Univ, Coll Med, Dept Prevent Med, Seoul, South Korea.;Seoul Natl Univ, Coll Med, Dept Biomed Sci, Seoul, South Korea.;Seoul Natl Univ, Coll Med, Canc Res Inst, Seoul, South Korea..
    Lindor, Noralane
    Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA..
    Couch, Fergus J.
    Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA.;Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA..
    Tischkowitz, Marc
    McGill Univ, Program Canc Genet, Montreal, PQ, Canada..
    Foretova, Lenka
    Masaryk Univ, Masaryk Mem Canc Inst, Brno, Czech Republic.;Masaryk Univ, Fac Med, Brno, Czech Republic..
    Vijai, Joseph
    Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA..
    Offit, Kenneth
    Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA..
    Singer, Christian F.
    Med Univ Vienna, Ctr Comprehens Canc, Dept Obstet & Gynecol, Vienna, Austria..
    Rappaport, Christine
    Med Univ Vienna, Ctr Comprehens Canc, Dept Obstet & Gynecol, Vienna, Austria..
    Phelan, Catherine M.
    Univ S Florida, H Lee Moffitt Canc Ctr, Dept Canc Epidemiol, Tampa, FL 33682 USA..
    Greene, Mark H.
    NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, US NIH, Rockville, MD USA..
    Mai, Phuong L.
    NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, US NIH, Rockville, MD USA..
    Rennert, Gad
    Carmel Hosp, Dept Community Med & Epidemiol, Haifa, Israel.;Technion Israel Inst Technol, Bruce Rappaport Fac Med, POB 9649, IL-31096 Haifa, Israel.;Clalit Natl Israeli Canc Control Ctr, Haifa, Israel..
    Imyanitov, Evgeny N.
    NN Petrov Oncol Res Inst, St Petersburg, Russia..
    Hulick, Peter J.
    NorthShore Univ Hlth Syst, Ctr Med Genet, Evanston, IL USA..
    Phillips, Kelly-Anne
    Peter MacCallum Canc Ctr, Div Canc Med, East Melbourne, Vic, Australia..
    Piedmonte, Marion
    Roswell Pk Canc Inst, Stat & Data Management Ctr, NRG Oncol, Buffalo, NY 14263 USA..
    Mulligan, Anna Marie
    Univ Hlth Network, Lab Med Program, Toronto, ON, Canada.;Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada..
    Glendon, Gord
    Mt Sinai Hosp, Lunenfeld Tanenbaum Res Inst, Toronto, ON M5G 1X5, Canada..
    Bojesen, Anders
    Vejle Hosp, Dept Clin Genet, Vejle, Denmark..
    Thomassen, Mads
    Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark..
    Caligo, Maria A.
    Univ Pisa, Dept Lab Med, Sect Genet Oncol, Pisa, Italy.;Univ Hosp Pisa, Pisa, Italy..
    Yoon, Sook-Yee
    Sime Darby Med Ctr, Canc Res Initiat Fdn, Subang Jaya, Malaysia.;Univ Malaya, Univ Malaya Med Ctr, Fac Med, Univ Malaya Canc Res Inst, Kuala Lumpur, Malaysia..
    Friedman, Eitan
    Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel..
    Laitman, Yael
    Chaim Sheba Med Ctr, Susanne Levy Gertner Oncogenet Unit, IL-52621 Tel Hashomer, Israel..
    Borg, Ake
    Lund Univ, Dept Oncol, Lund, Sweden..
    Von Wachenfeldt, Anna
    Karolinska Univ Hosp, Dept Oncol Pathol, Stockholm, Sweden..
    Ehrencrona, Hans
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Univ Lund Hosp, Dept Clin Genet, S-22185 Lund, Sweden..
    Rantala, Johanna
    Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden..
    Olopade, Olufunmilayo I.
    Univ Chicago, Med Ctr, Ctr Clin Canc Genet & Global Hlth, Chicago, IL 60637 USA..
    Ganz, Patricia A.
    Univ Calif Los Angeles, Sch Med, Johnsson Comprehens Canc Ctr, Div Canc Prevent & Control Res, Los Angeles, CA USA.;Univ Calif Los Angeles, Sch Publ Hlth, Johnsson Comprehens Canc Ctr, Div Canc Prevent & Control Res, Los Angeles, CA USA..
    Nussbaum, Robert L.
    Univ Calif San Francisco, Dept Med & Genet, San Francisco, CA 94143 USA..
    Gayther, Simon A.
    Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA..
    Nathanson, Katherine L.
    Univ Penn, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA..
    Domchek, Susan M.
    Univ Penn, Abramson Canc Ctr, Perelman Sch Med, Philadelphia, PA 19104 USA..
    Arun, Banu K.
    Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA..
    Mitchell, Gillian
    Peter MacCallum Canc Ctr, Familial Canc Ctr, Melbourne, Vic, Australia.;Univ Melbourne, Sir Peter MacCallum Dept Oncol, Melbourne, Vic, Australia..
    Karlan, Beth Y.
    Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA..
    Lester, Jenny
    Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA..
    Maskarinec, Gertraud
    Univ Hawaii, Ctr Canc, Honolulu, HI 96822 USA..
    Woolcott, Christy
    Dalhousie Univ, Dept Obstet Gynaecol & Pediat, Halifax, NS, Canada..
    Scott, Christopher
    Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA..
    Stone, Jennifer
    Univ Western Australia, Ctr Genet Origins Hlth & Dis, Perth, WA 6009, Australia..
    Apicella, Carmel
    Univ Melbourne, Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic, Australia..
    Tamimi, Rulla
    Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Univ, Sch Med, Boston, MA USA.;Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA.;Harvard Univ, Sch Publ Hlth, Program Genet Epidemiol & Stat Genet, 665 Huntington Ave, Boston, MA 02115 USA..
    Luben, Robert
    Univ Cambridge, Dept Publ Hlth & Primary Care, Clin Gerontol, Cambridge, England..
    Khaw, Kay-Tee
    Univ Cambridge, Dept Publ Hlth & Primary Care, Clin Gerontol, Cambridge, England..
    Helland, Aslaug
    Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway..
    Haakensen, Vilde
    Radiumhospitalet, Oslo Univ Hosp, Inst Canc Res, Dept Genet, Oslo, Norway..
    Dowsett, Mitch
    Breakthrough Breast Canc Res Ctr, Breast Canc Res, London, England.;Royal Marsden Hosp, Acad Biochem, London SW3 6JJ, England..
    Pharoah, Paul D. P.
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Simard, Jacques
    Univ Laval, Quebec City, PQ, Canada.;Ctr Hosp Univ Quebec, Quebec City, PQ, Canada..
    Hall, Per
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Garcia-Closas, Montserrat
    Inst Canc Res, Breakthrough Breast Canc Res Ctr, Div Canc Studies, London SW3 6JB, England.;Inst Canc Res, Div Genet & Epidemiol, London SW3 6JB, England..
    Vachon, Celine
    Mayo Clin, Dept Hlth Sci Res, Rochester, MN USA..
    Chenevix-Trench, Georgia
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Antoniou, Antonis C.
    Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Easton, Douglas F.
    Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge, England.;Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge, England..
    Edwards, Stacey L.
    QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld, Australia..
    Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC1702016In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 4, p. 374-386Article in journal (Refereed)
    Abstract [en]

    We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER-) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER-tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.

  • 32. Dupuis, Josée
    et al.
    Langenberg, Claudia
    Prokopenko, Inga
    Saxena, Richa
    Soranzo, Nicole
    Jackson, Anne U
    Wheeler, Eleanor
    Glazer, Nicole L
    Bouatia-Naji, Nabila
    Gloyn, Anna L
    Lindgren, Cecilia M
    Mägi, Reedik
    Morris, Andrew P
    Randall, Joshua
    Johnson, Toby
    Elliott, Paul
    Rybin, Denis
    Thorleifsson, Gudmar
    Steinthorsdottir, Valgerdur
    Henneman, Peter
    Grallert, Harald
    Dehghan, Abbas
    Hottenga, Jouke Jan
    Franklin, Christopher S
    Navarro, Pau
    Song, Kijoung
    Goel, Anuj
    Perry, John R B
    Egan, Josephine M
    Lajunen, Taina
    Grarup, Niels
    Sparsø, Thomas
    Doney, Alex
    Voight, Benjamin F
    Stringham, Heather M
    Li, Man
    Kanoni, Stavroula
    Shrader, Peter
    Cavalcanti-Proença, Christine
    Kumari, Meena
    Qi, Lu
    Timpson, Nicholas J
    Gieger, Christian
    Zabena, Carina
    Rocheleau, Ghislain
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Geriatrics.
    An, Ping
    O'Connell, Jeffrey
    Luan, Jian'an
    Elliott, Amanda
    McCarroll, Steven A
    Payne, Felicity
    Roccasecca, Rosa Maria
    Pattou, François
    Sethupathy, Praveen
    Ardlie, Kristin
    Ariyurek, Yavuz
    Balkau, Beverley
    Barter, Philip
    Beilby, John P
    Ben-Shlomo, Yoav
    Benediktsson, Rafn
    Bennett, Amanda J
    Bergmann, Sven
    Bochud, Murielle
    Boerwinkle, Eric
    Bonnefond, Amélie
    Bonnycastle, Lori L
    Borch-Johnsen, Knut
    Böttcher, Yvonne
    Brunner, Eric
    Bumpstead, Suzannah J
    Charpentier, Guillaume
    Chen, Yii-Der Ida
    Chines, Peter
    Clarke, Robert
    Coin, Lachlan J M
    Cooper, Matthew N
    Cornelis, Marilyn
    Crawford, Gabe
    Crisponi, Laura
    Day, Ian N M
    de Geus, Eco J C
    Delplanque, Jerome
    Dina, Christian
    Erdos, Michael R
    Fedson, Annette C
    Fischer-Rosinsky, Antje
    Forouhi, Nita G
    Fox, Caroline S
    Frants, Rune
    Franzosi, Maria Grazia
    Galan, Pilar
    Goodarzi, Mark O
    Graessler, Jürgen
    Groves, Christopher J
    Grundy, Scott
    Gwilliam, Rhian
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology.
    Hadjadj, Samy
    Hallmans, Göran
    Hammond, Naomi
    Han, Xijing
    Hartikainen, Anna-Liisa
    Hassanali, Neelam
    Hayward, Caroline
    Heath, Simon C
    Hercberg, Serge
    Herder, Christian
    Hicks, Andrew A
    Hillman, David R
    Hingorani, Aroon D
    Hofman, Albert
    Hui, Jennie
    Hung, Joe
    Isomaa, Bo
    Johnson, Paul R V
    Jørgensen, Torben
    Jula, Antti
    Kaakinen, Marika
    Kaprio, Jaakko
    Kesaniemi, Y Antero
    Kivimaki, Mika
    Knight, Beatrice
    Koskinen, Seppo
    Kovacs, Peter
    Kyvik, Kirsten Ohm
    Lathrop, G Mark
    Lawlor, Debbie A
    Le Bacquer, Olivier
    Lecoeur, Cécile
    Li, Yun
    Lyssenko, Valeriya
    Mahley, Robert
    Mangino, Massimo
    Manning, Alisa K
    Martínez-Larrad, María Teresa
    McAteer, Jarred B
    McCulloch, Laura J
    McPherson, Ruth
    Meisinger, Christa
    Melzer, David
    Meyre, David
    Mitchell, Braxton D
    Morken, Mario A
    Mukherjee, Sutapa
    Naitza, Silvia
    Narisu, Narisu
    Neville, Matthew J
    Oostra, Ben A
    Orrù, Marco
    Pakyz, Ruth
    Palmer, Colin N A
    Paolisso, Giuseppe
    Pattaro, Cristian
    Pearson, Daniel
    Peden, John F
    Pedersen, Nancy L
    Perola, Markus
    Pfeiffer, Andreas F H
    Pichler, Irene
    Polasek, Ozren
    Posthuma, Danielle
    Potter, Simon C
    Pouta, Anneli
    Province, Michael A
    Psaty, Bruce M
    Rathmann, Wolfgang
    Rayner, Nigel W
    Rice, Kenneth
    Ripatti, Samuli
    Rivadeneira, Fernando
    Roden, Michael
    Rolandsson, Olov
    Sandbaek, Annelli
    Sandhu, Manjinder
    Sanna, Serena
    Sayer, Avan Aihie
    Scheet, Paul
    Scott, Laura J
    Seedorf, Udo
    Sharp, Stephen J
    Shields, Beverley
    Sigurethsson, Gunnar
    Sijbrands, Eric J G
    Silveira, Angela
    Simpson, Laila
    Singleton, Andrew
    Smith, Nicholas L
    Sovio, Ulla
    Swift, Amy
    Syddall, Holly
    Syvänen, Ann-Christine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Tanaka, Toshiko
    Thorand, Barbara
    Tichet, Jean
    Tönjes, Anke
    Tuomi, Tiinamaija
    Uitterlinden, André G
    van Dijk, Ko Willems
    van Hoek, Mandy
    Varma, Dhiraj
    Visvikis-Siest, Sophie
    Vitart, Veronique
    Vogelzangs, Nicole
    Waeber, Gérard
    Wagner, Peter J
    Walley, Andrew
    Walters, G Bragi
    Ward, Kim L
    Watkins, Hugh
    Weedon, Michael N
    Wild, Sarah H
    Willemsen, Gonneke
    Witteman, Jaqueline C M
    Yarnell, John W G
    Zeggini, Eleftheria
    Zelenika, Diana
    Zethelius, Björn
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Geriatrics.
    Zhai, Guangju
    Zhao, Jing Hua
    Zillikens, M Carola
    Borecki, Ingrid B
    Loos, Ruth J F
    Meneton, Pierre
    Magnusson, Patrik K E
    Nathan, David M
    Williams, Gordon H
    Hattersley, Andrew T
    Silander, Kaisa
    Salomaa, Veikko
    Smith, George Davey
    Bornstein, Stefan R
    Schwarz, Peter
    Spranger, Joachim
    Karpe, Fredrik
    Shuldiner, Alan R
    Cooper, Cyrus
    Dedoussis, George V
    Serrano-Ríos, Manuel
    Morris, Andrew D
    Lind, Lars
    Palmer, Lyle J
    Hu, Frank B
    Franks, Paul W
    Ebrahim, Shah
    Marmot, Michael
    Kao, W H Linda
    Pankow, James S
    Sampson, Michael J
    Kuusisto, Johanna
    Laakso, Markku
    Hansen, Torben
    Pedersen, Oluf
    Pramstaller, Peter Paul
    Wichmann, H Erich
    Illig, Thomas
    Rudan, Igor
    Wright, Alan F
    Stumvoll, Michael
    Campbell, Harry
    Wilson, James F
    Bergman, Richard N
    Buchanan, Thomas A
    Collins, Francis S
    Mohlke, Karen L
    Tuomilehto, Jaakko
    Valle, Timo T
    Altshuler, David
    Rotter, Jerome I
    Siscovick, David S
    Penninx, Brenda W J H
    Boomsma, Dorret I
    Deloukas, Panos
    Spector, Timothy D
    Frayling, Timothy M
    Ferrucci, Luigi
    Kong, Augustine
    Thorsteinsdottir, Unnur
    Stefansson, Kari
    van Duijn, Cornelia M
    Aulchenko, Yurii S
    Cao, Antonio
    Scuteri, Angelo
    Schlessinger, David
    Uda, Manuela
    Ruokonen, Aimo
    Jarvelin, Marjo-Riitta
    Waterworth, Dawn M
    Vollenweider, Peter
    Peltonen, Leena
    Mooser, Vincent
    Abecasis, Goncalo R
    Wareham, Nicholas J
    Sladek, Robert
    Froguel, Philippe
    Watanabe, Richard M
    Meigs, James B
    Groop, Leif
    Boehnke, Michael
    McCarthy, Mark I
    Florez, Jose C
    Barroso, Inês
    New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk2010In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 42, no 2, p. 105-116Article in journal (Refereed)
    Abstract [en]

    Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nine loci newly associated with fasting glucose (in or near ADCY5, MADD, ADRA2A, CRY2, FADS1, GLIS3, SLC2A2, PROX1 and C2CD4B) and one influencing fasting insulin and HOMA-IR (near IGF1). We also demonstrated association of ADCY5, PROX1, GCK, GCKR and DGKB-TMEM195 with type 2 diabetes. Within these loci, likely biological candidate genes influence signal transduction, cell proliferation, development, glucose-sensing and circadian regulation. Our results demonstrate that genetic studies of glycemic traits can identify type 2 diabetes risk loci, as well as loci containing gene variants that are associated with a modest elevation in glucose levels but are not associated with overt diabetes.

  • 33.
    Ehret, Georg B.
    et al.
    Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD USA.;Univ Hosp Geneva, Dept Med, Cardiol, Geneva, Switzerland..
    Ferreira, Teresa
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England..
    Chasman, Daniel I.
    Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Jackson, Anne U.
    Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.;Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA..
    Schmidt, Ellen M.
    Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA..
    Johnson, Toby
    Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;GlaxoSmithKline, Stevenage, Herts, England..
    Thorleifsson, Gudmar
    deCODE Genet Amgen Inc, Reykjavik, Iceland..
    Luan, Jian'an
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Donnelly, Louise A.
    Univ Dundee, Ninewells Hosp & Med Sch, Med Res Inst, Dundee, Scotland..
    Kanoni, Stavroula
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England..
    Petersen, Ann -Kristin
    Helmholtz Zentrum Munchen, Inst Genet Epidemiol, Neuherberg, Germany..
    Pihurl, Vasyl
    Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD USA..
    Strawbridge, Rona J.
    Karolinska Inst, Dept Med, Cardiovasc Res Unit, Ctr Mol Med, Stockholm, Sweden.;Karolinska Univ Hosp Solna, Ctr Mol Med, Stockholm, Sweden..
    Shungin, Dmitry
    Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden.;Lund Univ, Genet & Mol Epidemiol Unit, Dept Clin Sci, Malmo, Sweden.;Umea Univ, Dept Odontol, Umea, Sweden..
    Hughes, Maria F.
    Queens Univ Belfast, Ctr Excellence Publ Hlth, Belfast, Antrim, North Ireland..
    Meirelles, Osorio
    NIA, Genet Lab, Intramural Res Program, US Natl Inst Hlth, Baltimore, MD 21224 USA..
    Kaakinen, Marika
    Imperial Coll London, Sch Publ Hlth, Hammersmith Hosp, Dept Genom Common Dis, London, England..
    Bouatia-Naji, Nabila
    INSERM UMR 970, Paris Cardiovasc Res Ctr PARCC, Paris, France.;Univ Paris 05, Sorbonne Paris Cite, Paris, France..
    Kristiansson, Kati
    Natl Inst Hlth & Welf, Helsinki, Finland.;Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland..
    Shah, Sonia
    UCL, Dept Epidemiol & Publ Hlth, Genet Epidemiol Grp, London, England..
    Kleber, Marcus E.
    Heidelberg Univ, Med Fac Mannheim, Dept Med 5, Mannheim, Germany..
    Guo, Xiuqing
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Lyytikainen, Leo-Pekka
    Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere, Finland..
    Fava, Cristiano
    Lund Univ, Dept Internal Med, Malmo, Sweden.;Univ Verona, Dept Med, Verona, Italy..
    Eriksson, Niclas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Medicinska och farmaceutiska vetenskapsområdet, centrumbildningar mm, UCR-Uppsala Clinical Research Center.
    Nolte, Ilja M.
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Magnusson, Patrik K.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Salfati, Elias L.
    Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA..
    Rallidis, Loukianos S.
    Univ Athens, Sch Med, Attikon Hosp, Dept Cardiol 2, Athens, Greece..
    Theusch, Elizabeth
    Childrens Hosp Oakland Res Inst, Oakland, CA USA..
    Smith, Andrew J. P.
    UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England..
    Folkersen, Lasse
    Karolinska Inst, Dept Med, Cardiovasc Res Unit, Ctr Mol Med, Stockholm, Sweden..
    Witkowska, Kate
    Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Unit, London, England..
    Pers, Tune H.
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA.;Univ Copenhagen, Novo Nordisk Fdn Ctr Basic Metab Res, Metab Sect, Genet,Fac Hlth & Med Sci, Copenhagen, Denmark.;Statens Serum Inst, Dept Epidemiol Res, Copenhagen, Denmark..
    Joehanes, Roby
    NHLBI, Framingham Heart Study, Framingham, MA USA..
    Kim, Stuart K.
    Stanford Univ, Med Ctr, Dept Dev Biol & Genet, Stanford, CA 94305 USA..
    Lataniotis, Lazaros
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England..
    Jansen, Rick
    Vrije Univ Amsterdam, Dept Psychiat, Med Ctr, Amsterdam, Netherlands..
    Johnson, Andrew D.
    NHLBI, Framingham Heart Study, Framingham, MA USA.;NHLBI, Cardiovasc Epidemiol & Human Genom Branch, Bldg 10, Bethesda, MD 20892 USA..
    Warren, Helen
    Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Unit, London, England..
    Kim, Young Jin
    Natl Inst Hlth, Ctr Genome Sci, Osong Hlth Technol Adm Complex, Chungcheongbuk Do, South Korea..
    Zhao, Wei
    Univ Penn, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA..
    Wu, Ying
    Univ N Carolina, Dept Genet, Chapel Hill, NC USA..
    Tayo, Bamidele O.
    Loyola Univ, Chicago Stritch Sch Med, Dept Publ Hlth Sci, Maywood, IL 60153 USA..
    Bochud, Murielle
    CHU Vaudois, Inst Social & Prevent Med IUMSP, Lausanne, Switzerland.;Univ Lausanne, Lausanne, Switzerland..
    Absher, Devin
    HudsonAlpha Inst Biotechnol, Huntsville, AL USA..
    Adair, Linda S.
    Univ N Carolina, Dept Nutr, Chapel Hill, NC USA..
    Amin, Najaf
    Erasmus MC, Dept Epidemiol, Genet Epidemiol Unit, Rotterdam, Netherlands..
    Arkingl, Dan E.
    Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD USA..
    Axelsson, Tomas
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences.
    Baldassarre, Damian
    Univ Milan, Dipartimento Sci Farmacol & Biomol, Milan, Italy.;IRCCS, Ctr Cardiol Monzino, Milan, Italy..
    Balkau, Beverley
    Univ Paris 11, Ctr Res Epidemiol & Populat Hlth, INSERM U1018, URMS 1018, Villejuif, France..
    Bandinelli, Stefania
    ASF, Geriatr Unit, Florence, Italy..
    Barnes, Michael R.
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.;Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Unit, London, England..
    Barroso, Ines
    Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England.;Univ Cambridge, Inst Metab Sci, Addenbrookes Hosp, Metab Res Labs, Cambridge, England.;Addenbrookes Hosp, NIHR Cambridge Biomed Res Ctr, Inst Metab Sci, Cambridge, England..
    Bevan, Stephen
    Lincoln Univ, Joseph Banks Labs, Sch Life Sci, Lincoln, England..
    Bis, Joshua C.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA..
    Bjornsdottir, Gyda
    deCODE Genet Amgen Inc, Reykjavik, Iceland..
    Boehnke, Michael
    Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.;Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA..
    Boerwinkle, Eric
    Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Human Genet Ctr, Houston, TX 77030 USA..
    Bonnycastle, Lori L.
    NHGRI, Med Genom & Metab Genet Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA..
    Boomsma, Dorret I.
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands..
    Bornstein, Stefan R.
    Univ Dresden, Med Fac Carl Gustav Carus, Dept Med 3, Dresden, Germany..
    Brown, Morris J.
    Queen Mary Univ London, Barts Heart Ctr, William Harvey Res Inst, London, England..
    Burnier, Michel
    CHU Vaudois, Nephrol, Lausanne, Switzerland.;Univ Lausanne, Lausanne, Switzerland..
    Cabrera, Claudia P.
    Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Unit, London, England..
    Chambers, John C.
    Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England.;Imperial Coll Healthcare NHS Trust, London, England..
    Chang, I-Shou
    Natl Inst Canc Res, Natl Hlth Res Inst, Zhunan Town, Taiwan..
    Cheng, Ching-Yu
    Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore.;Duke NUS Grad Med Sch Singapore, Singapore, Singapore.;Natl Univ Singapore, Dept Ophthalmol, Singapore, Singapore.;Natl Univ Hlth Syst, Singapore, Singapore..
    Chines, Peter S.
    NHGRI, Med Genom & Metab Genet Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA..
    Chung, Ren-Hua
    Natl Hlth Res Inst, Div Biostat & Bioinformat, Inst Populat Hlth Sci, Zhunan Town, Taiwan..
    Collins, Francis S.
    NHGRI, Med Genom & Metab Genet Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA..
    Connell, John M.
    Univ Dundee, Ninewells Hosp & Med Sch, Dundee, Scotland..
    Doring, Angela
    Helmholtz Zentrum Munchen, Inst Epidemiol 1, Neuherberg, Germany.;Helmholtz Zentrum Munchen, Inst Epidemiol 2, Neuherberg, Germany..
    Dallongeville, Jean
    Univ Lille 2, INSERM UMR 1167, Inst Pasteur Lille, Lille, France..
    Danesh, John
    Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England.;Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England.;Univ Cambridge, Dept Publ Hlth & Primary Care, NIHR Blood & Transplant Res Unit Donor Hlth & Gen, Cambridge, England..
    de Faire, Ulf
    Karolinska Inst, Inst Environm Med, Div Cardiovasc Epidemiol, Stockholm, Sweden..
    Delgado, Graciela
    Heidelberg Univ, Med Fac Mannheim, Dept Med 5, Mannheim, Germany..
    Dominiczak, Anna F.
    Univ Glasgow, Inst Cardiovasc & Med Sci, BHF Glasgow Cardiovasc Res Ctr, Glasgow, Lanark, Scotland..
    Doney, Alex S. F.
    Univ Dundee, Ninewells Hosp & Med Sch, Med Res Inst, Dundee, Scotland..
    Drenos, Fotios
    UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England.;Univ Bristol, Sch Social & Community Med, Med Res Council Integrat Epidemiol Unit, Oakfield House, Bristol, Avon, England..
    Edkins, Sarah
    Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England..
    Eicher, John D.
    NHLBI, Framingham Heart Study, Framingham, MA USA.;NHLBI, Cardiovasc Epidemiol & Human Genom Branch, Bldg 10, Bethesda, MD 20892 USA..
    Elosua, Roberto
    Inst Hosp Mar Invest Med IMIM, Cardiovasc Epidemiol & Genet, Barcelona, Spain..
    Enroth, Stefan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Erdmann, Jeanette
    Univ Lubeck, Inst Integrat & Expt Genom, Lubeck, Germany.;Deutsch Zentrum Herz Kreislauf Forsch DZHK, Partner Site Hamburg, Kiel, Germany..
    Eriksson, Per
    Karolinska Inst, Dept Med, Cardiovasc Res Unit, Ctr Mol Med, Stockholm, Sweden..
    Esko, Tonu
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Univ Tartu, Estonian Genome Ctr, Tartu, Estonia.;Broad Inst MIT & Harvard, Cambridge, MA USA..
    Evangelou, Evangelos
    Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England.;Univ Ioannina, Dept Hyg & Epidemiol, Sch Med, Ioannina, Greece..
    Evans, Alun
    Queens Univ Belfast, Ctr Excellence Publ Hlth, Belfast, Antrim, North Ireland..
    Fall, Tove
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology.
    Farra, Martin
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England..
    Felixl, Janine F.
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands..
    Ferrieres, Jean
    Toulouse Univ, Sch Med, Rangueil Univ Hosp, INSERM UMR 1027, Toulouse, France..
    Ferrucci, Luigi
    NIA, Translat Gerontol Branch, Baltimore, MD 21224 USA..
    Fornage, Myriam
    Univ Texas Hlth Sci Ctr Houston, Inst Mol Med, Houston, TX 77030 USA..
    Forrester, Terrence
    Univ West Indies, Trop Metab Res Unit, Res Inst Trop Med, Kingston, Jamaica..
    Franceschinil, Nora
    Univ N Carolina, Dept Epidemiol, Chapel Hill, NC USA..
    Franco, Oscar H.
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands..
    Franco-Cereceda, Anders
    Karolinska Inst, Dept Mol Med & Surg, Cardiothorac Surg Unit, Stockholm, Sweden..
    Fraser, Ross M.
    Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland.;Synpromics Ltd, Edinburgh, Midlothian, Scotland..
    Ganesh, Santhi K.
    Univ Michigan, Sch Med, Dept Cardiol, Ann Arbor, MI 48109 USA..
    Gao, He
    Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England..
    Gertow, Karl
    Karolinska Inst, Dept Med, Cardiovasc Res Unit, Ctr Mol Med, Stockholm, Sweden.;Karolinska Univ Hosp Solna, Ctr Mol Med, Stockholm, Sweden..
    Gianfagna, Francesco
    Univ Insubria, Dept Clin & Expt Med, Epidemiol & Prevent Med EPIMED Res Ctr, Varese, Italy.;IRCCS, Ist Neurol Mediterraneo NEUROMED, Dept Epidemiol & Prevent, Pozzilli, Italy..
    Gigante, Bruna
    Karolinska Inst, Inst Environm Med, Div Cardiovasc Epidemiol, Stockholm, Sweden..
    Giulianini, Franco
    Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA..
    Goe, Anuj
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England..
    Goodall, Alison H.
    Univ Leicester, Glenfield Hosp, Dept Cardiovasc Sci, Leicester, Leics, England.;Glenfield Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester, Leics, England..
    Goodarzi, Mark
    Cedars Sinai Med Ctr, Div Endocrinol Diabet & Metab, Los Angeles, CA 90048 USA..
    Gorski, Mathias
    Univ Regensburg, Inst Epidemiol & Prevent Med, Dept Genet Epidemiol, Regensburg, Germany.;Univ Hosp Regensburg, Dept Nephrol, Regensburg, Germany..
    Grassler, Jurgen
    Tech Univ Dresden, Dept Med 2, Div Pathobiochem, Dresden, Germany..
    Groves, Christopher J.
    Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England..
    Gudnason, Vilmundur
    Iceland Heart Assoc, Kopavogur, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Gyllensten, Ulf
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Hallmans, Göran
    Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden..
    Hartikainen, Anna-Liisa
    Univ Oulu, Inst Clin Med Obstet & Gynaecol, Oulu, Finland.;Oulu Univ Hosp, Med Res Ctr, Oulu, Finland..
    Hassinen, Maija
    Kuopio Res Inst Exercise Med, Kuopio, Finland..
    Havulinna, Aki S.
    Natl Inst Hlth & Welf, Helsinki, Finland..
    Hayward, Caroline
    Western Gen Hosp, Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland..
    Hercberg, Serge
    Univ Paris 13, UREN, INSERM U557, INRA U1125,Sorbonne Paris Cite, Bobigny, France..
    Herzig, Karl-Heinz
    Univ Oulu, Inst Biomed, Med Res Ctr Oulu, Oulu, Finland.;Oulu Univ Hosp, Oulu, Finland.;Univ Oulu, Bioctr Oulu, Oulu, Finland.;Poznan Univ Med Sci, Dept Gastroenterol & Metab, Poznan, Poland..
    Hicks, Andrew A.
    European Acad Bozen Bolzano EURAC, Ctr Biomed, Bolzano, Italy.;Univ Lubeck, Inst, Lubeck, Germany..
    Hingorani, Aroon D.
    UCL, Dept Epidemiol & Publ Hlth, Genet Epidemiol Grp, London, England..
    Hirschhorn, Joel N.
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA USA.;Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Harvard Med Sch, Dept Genet, Boston, MA USA..
    Hofmanl, Albert
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands.;Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA..
    Holmen, Jostein
    Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Levanger, Norway..
    Holmen, Oddgeir Lingaas
    Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Levanger, Norway.;Univ Trondheim Hosp, St Olav Hosp, Trondheim, Norway..
    Hottenga, Jouke-Jan
    Vrije Univ Amsterdam, Dept Biol Psychol, Amsterdam, Netherlands..
    Howard, Phil
    UCL, Inst Cardiovasc Sci, Ctr Cardiovasc Genet, London, England..
    Hsiung, Chao A.
    Natl Hlth Res Inst, Div Biostat & Bioinformat, Inst Populat Hlth Sci, Zhunan Town, Taiwan..
    Hunt, Steven C.
    Univ Utah, Sch Med, Cardiovasc Genet Div, Salt Lake City, UT USA.;Weill Cornell Med Coll Qatar, Dept Genet Med, Doha, Qatar..
    Ikram, M. Arfan
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands.;Erasmus MC, Dept Radiol, Rotterdam, Netherlands.;Erasmus MC, Univ Med Ctr Rotterdam, Dept Neurol, Rotterdam, Netherlands..
    Illig, Thomas
    Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, Neuherberg, Germany.;Hannover Med Sch, Inst Human Genet, Hannover, Germany..
    Iribarren, Carlos
    Kaiser Permanente, Div Res, Oakland, CA USA..
    Jensen, Richard A.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA.;Univ Tampere, Sch Med, Dept Clin Physiol, Tampere, Finland..
    Kahonen, Mika
    Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA..
    Kang, Hyun Min
    Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.;Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA..
    Kathiresan, Sekar
    Harvard Med Sch, Dept Med, Boston, MA USA.;Univ Penn, Dept Surg, Div Transplantat, Philadelphia, PA 19104 USA.;Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA..
    Keating, Brendan J.
    Univ Cambridge, Inst Publ Hlth, Dept Publ Hlth & Primary Care, Cambridge, England.;Onassis Cardiac Surg Ctr, Dept Cardiol 1, Athens, Greece..
    Khaw, Kay-Tee
    Imperial Coll London, Hammersmith Hosp Campus, Natl Heart & Lung Inst, London, England..
    Kim, Yun Kyoung
    Natl Inst Hlth, Ctr Genome Sci, Osong Hlth Technol Adm Complex, Chungcheongbuk Do, South Korea..
    Kim, Eric
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Kivimaki, Mika
    UCL, Dept Epidemiol & Publ Hlth, Genet Epidemiol Grp, London, England..
    Klopp, Norman
    Helmholtz Zentrum Munchen, Res Unit Mol Epidemiol, Neuherberg, Germany.;Hannover Med Sch, Hannover Unified Biobank, Hannover, Germany..
    Kolovou, Genovefa
    Childrens Hosp Oakland, Res Inst, Dept Med, Oakland, CA 94609 USA..
    Komulainen, Pirjo
    Kuopio Res Inst Exercise Med, Kuopio, Finland..
    Kooner, Jaspal S.
    Ealing Hosp NHS Trust, Dept Cardiol, Southall, Middx, England.;Imperial Coll Healthcare NHS Trust, London, England.;MRC Unit Lifelong Hlth & Ageing UCL, London, England..
    Kosova, Gulum
    Broad Inst MIT & Harvard, Cambridge, MA USA.;Harvard Med Sch, Dept Med, Boston, MA USA.;Massachusetts Gen Hosp, Div Cardiol, Dept Med, Boston, MA 02114 USA..
    Krauss, Ronald M.
    Univ Lausanne, Dept Med Genet, Lausanne, Switzerland..
    Kuh, Diana
    Swiss Inst Bioinformat, Lausanne, Switzerland..
    Kutalik, Zoltan
    Univ Eastern Finland, Dept Med, Kuopio, Finland.;Kuopio Univ Hosp, Kuopio, Finland.;Univ Eastern Finland, Inst Biomed Physiol, Kuopio, Finland..
    Kuusisto, Johanna
    Kuopio Univ Hosp, Dept Clin Physiol & Nucl Med, Kuopio, Finland..
    Kvaloy, Kirsti
    Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Levanger, Norway..
    Lakka, Timo A.
    Kuopio Res Inst Exercise Med, Kuopio, Finland.;Off Populat Studies Fdn Inc, Cebu, Philippines.;Univ San Carlos, Dept Anthropol Sociol & Hist, Cebu, Philippines..
    Lee, Nanette R.
    Taichung Vet Gen Hosp, Dept Internal Med, Div Endocrine & Metab, Taichung, Taiwan.;Natl Yang Ming Univ, Sch Med, Taipei, Taiwan..
    Lee, I-Te
    Taichung Vet Gen Hosp, Dept Med Res, Taichung, Taiwan.;NHLBI, Populat Sci Branch, US Natl Inst Hlth, Bldg 10, Bethesda, MD 20892 USA..
    Lee, Wen-Jane
    Taichung Vet Gen Hosp, Cardiovasc Ctr, Taichung, Taiwan..
    Levy, Daniel
    NHLBI, Framingham Heart Study, Framingham, MA USA.;Natl Yang Ming Univ, Inst Clin Med, Sch Med, Taipei, Taiwan..
    Li, Xiaohui
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Liang, Kae-Woei
    Boston Univ, Sch Med, Sect Computat Biomed, Dept Med, Boston, MA 02215 USA.;EGID, Lille, France..
    Lin, Honghuang
    NHLBI, Framingham Heart Study, Framingham, MA USA.;Lille Pasteur Inst, CNRS UMR 8199, Lille, France..
    Lin, Li
    Univ Hosp Geneva, Dept Med, Cardiol, Geneva, Switzerland..
    Lindstrom, Jaana
    Natl Inst Hlth & Welf, Helsinki, Finland..
    Lobbens, Stephane
    Univ Lille 2, Lille, France.;Univ Dresden, Med Fac Carl Gustav Carus, Ctr Evidence Based Healthcare, Dresden, Germany.;Univ Munich, Univ Hosp Grosshadern, Dept Med 1, Munich, Germany..
    Mannisto, Satu
    Natl Inst Hlth & Welf, Helsinki, Finland..
    Muller, Gabriele
    Univ Munich, Inst Med Informat Biometry & Epidemiol, Munich, Germany..
    Muller-Nurasyid, Martina
    Helmholtz Zentrum Munchen, Inst Genet Epidemiol, Neuherberg, Germany.;Univ Cambridge, Neurol Unit, Biomed Campus, Cambridge, England.;Harokopio Univ, Dept Dietet Nutr, Athens, Greece..
    Mach, Francois
    Univ Hosp Geneva, Dept Med, Cardiol, Geneva, Switzerland..
    Markus, Hugh S.
    Univ Paris 13, Univ Paris 06, Sorbonne Univ, INSERM U1142,LIMICS,UMRS 1142, Paris, France..
    Marouli, Eirini
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.;Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England..
    McCarthy, Mark I.
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England..
    McKenzie, Colin A.
    Univ West Indies, Trop Metab Res Unit, Res Inst Trop Med, Kingston, Jamaica..
    Meneton, Pierre
    Univ Verona, Dept Life & Reprod Sci, Verona, Italy..
    Menni, Cristina
    Kuopio Univ Hosp, Dept Med, Kuopio, Finland..
    Metspalu, Andres
    Univ Tartu, Estonian Genome Ctr, Tartu, Estonia..
    Mijatovic, Vladan
    Oulu Univ Hosp, Unit Gen Practice, Oulu, Finland..
    Moilanen, Leena
    Univ Maryland, Sch Med, Dept Med, Program Personalized & Genom Med, Baltimore, MD 21201 USA.;Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Dept Epidemiol Human Genet & Environm Sci, Houston, TX 77030 USA..
    Montasser, May E.
    Cittadella Univ Monseratto, IRGB, CNR, Cagliari, Italy..
    Morris, Andrew D.
    Univ Dundee, Ninewells Hosp & Med Sch, Med Res Inst, Dundee, Scotland..
    Morrison, Alanna C.
    Tampere Univ Hosp, Ctr Heart, Dept Cardiol, Tampere, Finland..
    Mulas, Antonella
    Univ Tampere, Sch Med, Dept Cardiol, Tampere, Finland..
    Nagaraja, Ramaiah
    NIA, Genet Lab, Intramural Res Program, US Natl Inst Hlth, Baltimore, MD 21224 USA..
    Narisu, Narisu
    NHGRI, Med Genom & Metab Genet Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA..
    Nikus, Kjell
    NHLBI, Div Cardiovasc Sci, Bldg 10, Bethesda, MD 20892 USA.;Kings Coll London, Inst Psychiat Psychol & Neurosci, London, England..
    O'Donnell, Christopher J.
    NHLBI, Framingham Heart Study, Framingham, MA USA.;Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA.;Childrens Hosp Boston, Genet & Program Genom, Boston, MA USA..
    O'Reilly, Paul F.
    Vrije Univ Amsterdam, Dept Psychiat, EMGO Inst, Med Ctr, Neurosci Campus, Amsterdam, Netherlands..
    Ong, Ken K.
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Paccaud, Fred
    Childrens Hosp Oakland, Res Inst, Dept Med, Oakland, CA 94609 USA..
    Palmer, Cameron D.
    Boston Childrens Hosp, Div Endocrinol, Boston, MA USA.;Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Univ Groningen, Univ Med Ctr Groningen, Dept Psychiat, Groningen, Netherlands..
    Parsa, Afshin
    Cittadella Univ Monseratto, IRGB, CNR, Cagliari, Italy..
    Pedersen, Nancy L.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden..
    Penninx, Brenda W.
    Leiden Univ, Med Ctr, Dept Psychiat, Leiden, Netherlands.;Imperial Coll London, Int Ctr Circulatory Hlth, London, England.;Gen Cent Hosp, Dept Neurol, Bolzano, Italy..
    Perola, Markus
    Natl Inst Hlth & Welf, Helsinki, Finland.;Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland.;Univ Tartu, Estonian Genome Ctr, Tartu, Estonia..
    Peters, Annette
    Helmholtz Zentrum Munchen, Inst Epidemiol 2, Neuherberg, Germany..
    Poulter, Neil
    Univ Lubeck, Dept Neurol, Lubeck, Germany..
    Pramstaller, Peter P.
    European Acad Bozen Bolzano EURAC, Ctr Biomed, Bolzano, Italy.;Univ Lubeck, Inst, Lubeck, Germany.;Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA.;Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA..
    Psaty, Bruce M.
    Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA.;Grp Hlth Res Inst, Grp Hlth Cooperat, Seattle, WA USA.;Washington Univ, Sch Med, Div Biostat, St Louis, DC USA.;Ctr Noncommunicable Dis, Karachi, Pakistan..
    Quertermous, Thomas
    Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA..
    Rao, Dabeeru C.
    Umea Univ, Dept Biobank Res, Umea, Sweden..
    Rasheed, Asif
    Univ Med Greifswald, Inst Physiol, Greifswald, Germany..
    Rayner, N. William
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Wellcome Trust Sanger Inst, Wellcome Trust Genome Campus, Hinxton, England.;Univ Oxford, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England..
    Renstrom, Frida
    Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden.;Lund Univ, Genet & Mol Epidemiol Unit, Dept Clin Sci, Malmo, Sweden.;Univ Washington, Dept Biostat, Seattle, WA 98195 USA..
    Rettig, Rainer
    Univ Ottawa, Inst Heart, Cardiovasc Res Methods Ctr Ontario, Ottawa, ON, Canada..
    Rice, Kenneth M.
    Ruddy Canadian Cardiovasc Genet Ctr, Ottawa, ON, Canada..
    Roberts, Robert
    South Karelia Cent Hosp, Lappeenranta, Finland.;Deutsch Herzzentrum Munich, Munich, Germany..
    Rose, Lynda M.
    Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA..
    Rossouw, Jacques
    Childrens Hosp Boston, Genet & Program Genom, Boston, MA USA..
    Samani, Nilesh J.
    Univ Leicester, Glenfield Hosp, Dept Cardiovasc Sci, Leicester, Leics, England.;Glenfield Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester, Leics, England..
    Sanna, Serena
    Univ Tampere, Sch Med, Dept Cardiol, Tampere, Finland..
    Saramies, Jouko
    Tech Univ Munich, Munich, Germany..
    Schunkert, Heribert
    Deutsch Zentrum Herz Kreislauf Forsch DZHK, Munich, Germany.;Munich Heart Alliance, Munich, Germany.;Univ Oulu, Ctr Lifecourse Hlth Res, Oulu, Finland..
    Sebert, Sylvain
    Univ Oulu, Bioctr Oulu, Oulu, Finland.;Univ San Carlos, Dept Anthropol Sociol & Hist, Cebu, Philippines.;Natl Def Med Ctr, Coll Med, Taipei, Taiwan. Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore. Natl Univ Hlth Syst, Singapore, Singapore..
    Sheu, Wayne H-H
    Karolinska Univ Hosp Solna, Ctr Mol Med, Stockholm, Sweden.;Taichung Vet Gen Hosp, Dept Med Res, Taichung, Taiwan.;NHLBI, Populat Sci Branch, US Natl Inst Hlth, Bldg 10, Bethesda, MD 20892 USA.;Grp Hlth Res Inst, Grp Hlth Cooperat, Seattle, WA USA..
    Shin, Young-Ah
    Natl Inst Hlth, Ctr Genome Sci, Osong Hlth Technol Adm Complex, Chungcheongbuk Do, South Korea..
    Sim, Xueling
    Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.;Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA.;Univ Eastern Finland, Kuopio, Finland.;Kuopio Univ Hosp, Kuopio, Finland..
    Smit, Johannes H.
    Leiden Univ, Med Ctr, Dept Psychiat, Leiden, Netherlands..
    Smith, Albert V.
    Iceland Heart Assoc, Kopavogur, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Sosa, Maria X.
    Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD USA..
    Spector, Tim D.
    Kuopio Univ Hosp, Dept Med, Kuopio, Finland..
    Stancakova, Alena
    Royal Coll Surgeons Ireland, Mol & Cellular Therapeut, Dublin, Ireland..
    Stanton, Alice V.
    Univ Cambridge, Dept Haematol, Cambridge, England..
    Stirrups, Kathleen E.
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.;Natl Univ Singapore, Dept Med, Singapore, Singapore.;Natl Univ Hlth Syst, Singapore, Singapore..
    Stringham, Heather M.
    Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.;Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA..
    Sundström, Johan
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiology.
    Swift, Amy J.
    NHGRI, Med Genom & Metab Genet Branch, US Natl Inst Hlth, Bethesda, MD 20892 USA..
    Syvänen, Ann-Christine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Tai, E-Shyong
    Duke NUS Grad Med Sch Singapore, Singapore, Singapore.;Univ Eastern Finland, Kuopio, Finland.;Kuopio Univ Hosp, Kuopio, Finland.;NIA, Intramural Res Program, Lab Cardiovasc Sci, US Natl Inst Hlth, Baltimore, MD 21224 USA..
    Tanaka, Toshiko
    NIA, Translat Gerontol Branch, Baltimore, MD 21224 USA..
    Tarasov, Kirill V.
    Univ Med Greifswald, Inst Community Med, Greifswald, Germany..
    Teumer, Alexander
    Univ Leicester, Dept Hlth Sci, Leicester, Leics, England..
    Thorsteinsdottir, Unnur
    deCODE Genet Amgen Inc, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Tobin, Martin D.
    Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    Tremoli, Elena
    Univ Milan, Dipartimento Sci Farmacol & Biomol, Milan, Italy.;IRCCS, Ctr Cardiol Monzino, Milan, Italy..
    Uitterlinden, Andre G.
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands.;Univ Eastern Finland, Dept Publ Hlth & Clin Nutr, Kuopio, Finland..
    Uusitupa, Matti
    Kuopio Univ Hosp, Res Unit, Kuopio, Finland.;Isfahan Univ Med Sci, Res Inst Primordial Prevent Noncommunicable Dis, Esfahan, Iran..
    Vaez, Ahmad
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands.;Johns Hopkins Med Inst, Baltimore, MD 21205 USA..
    Vaidya, Dhananjay
    NGI Erasmus Med Ctr, Ctr Med Syst Biol CMSB 12, Rotterdam, Netherlands..
    van Duijn, Cornelia M.
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands.;Acad Med Ctr, Dept Clin Epidemiol Biostat & Bioinformat, Amsterdam, Netherlands..
    van Iperen, Erik P. A.
    ICIN Netherlands Heart Inst, Durrer Ctr Cardiogenet Res, Utrecht, Netherlands.;Boston Univ, Dept Med, Sect Prevent Med, Sch Med, Boston, MA USA..
    Vasan, Ramachandran S.
    NHLBI, Framingham Heart Study, Framingham, MA USA.;Boston Univ, Sch Med, Dept Med, Cardiol, Boston, MA 02215 USA.;Univ Penn, Perelman Sch Med, Dept Genet, Dept Syst Pharmacol & Translat Therapeut, Philadelphia, PA 19104 USA..
    Verwoert, Germaine C.
    Erasmus MC, Univ Med Ctr Rotterdam, Dept Epidemiol, Rotterdam, Netherlands..
    Virtamo, Jarmo
    Natl Inst Hlth & Welf, Helsinki, Finland..
    Vitart, Veronique
    Western Gen Hosp, Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland..
    Voight, Benjamin F.
    Univ Lausanne Hosp, Dept Internal Med, Lausanne, Switzerland..
    Vollenweider, Peter
    Univ Strasbourg, EA3430, Dept Epidemiol & Publ Hlth, Strasbourg, France..
    Wagner, Aline
    Univ Michigan, Sch Med, Div Cardiovasc Med, Dept Internal Med, Ann Arbor, MI 48109 USA..
    Wain, Louise V.
    Erasmus MC, Dept Internal Med, Rotterdam, Netherlands..
    Wareham, Nicholas J.
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Watldns, Hugh
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Oxford, Radcliffe Dept Med, Div Cardiovasc Med, Oxford, England..
    Weder, Alan B.
    Univ Groningen, Univ Med Ctr Groningen, Groningen, Netherlands..
    Westra, Harm Jan
    Univ West Indies, Res Inst Trop Med, Epidemiol Res Unit, Kingston, Jamaica..
    Wilks, Rainford
    Univ Tromso, Dept Community Med, Fac Hlth Sci, Tromso, Norway..
    Wilsgaard, Tom
    Univ Tromso, Fac Hlth Sci, Dept Clin Med, Tromso, Norway.;Univ Cambridge, MRC Canc Unit, Cambridge, England..
    Wilson, James F.
    Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Edinburgh, Midlothian, Scotland.;Western Gen Hosp, Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland..
    Wong, Tien Y.
    Singapore Natl Eye Ctr, Singapore Eye Res Inst, Singapore, Singapore.;Duke NUS Grad Med Sch Singapore, Singapore, Singapore.;Natl Univ Singapore, Dept Ophthalmol, Singapore, Singapore.;Natl Univ Hlth Syst, Singapore, Singapore..
    Yang, Tsun-Po
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.;Case Western Reserve Univ, Dept Epidemiol & Biostat, Sch Med, Cleveland, OH 44106 USA..
    Yao, Jie
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Yengo, Loic
    Univ Lille 2, Lille, France.;Univ Dresden, Med Fac Carl Gustav Carus, Ctr Evidence Based Healthcare, Dresden, Germany.;Univ Munich, Univ Hosp Grosshadern, Dept Med 1, Munich, Germany..
    Zhang, Weihua
    Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England.;Ealing Hosp NHS Trust, Dept Cardiol, Southall, Middx, England..
    Zhao, Jing Hua
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Zhu, Xiaofeng
    Minist Hlth, Victoria, Seychelles..
    Bovet, Pascal
    CHU Vaudois, Inst Social & Prevent Med IUMSP, Lausanne, Switzerland.;Univ Lausanne, Lausanne, Switzerland.;Univ Penn, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA..
    Cooper, Richard S.
    Loyola Univ, Chicago Stritch Sch Med, Dept Publ Hlth Sci, Maywood, IL 60153 USA..
    Mohlke, Karen L.
    Univ N Carolina, Dept Genet, Chapel Hill, NC USA..
    Saleheen, Danish
    Univ Med Greifswald, Inst Physiol, Greifswald, Germany.;Imperial Coll London, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, London, England..
    Lee, Jong-Young
    Natl Inst Hlth, Ctr Genome Sci, Osong Hlth Technol Adm Complex, Chungcheongbuk Do, South Korea..
    Elliott, Paul
    Imperial Coll London, Sch Publ Hlth, Dept Epidemiol & Biostat, London, England.;Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands..
    Gierman, Hinco J.
    Stanford Univ, Med Ctr, Dept Dev Biol & Genet, Stanford, CA 94305 USA.;Acad Med Ctr, Dept Vasc Med, Amsterdam, Netherlands..
    Willer, Cristen J.
    Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA.;Univ Groningen, Univ Med Ctr Groningen, Groningen, Netherlands..
    Franke, Lude
    Hovingh, G. Kees
    Taylor, Kent D.
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Dedoussis, George
    Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England..
    Sever, Peter
    Univ Lubeck, Dept Neurol, Lubeck, Germany..
    Wong, Andrew
    Swiss Inst Bioinformat, Lausanne, Switzerland..
    Lind, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Cardiovascular epidemiology.
    Assimes, Themistocles L.
    Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA..
    Njolstad, Inger
    Univ Tromso, Fac Hlth Sci, Dept Clin Med, Tromso, Norway.;Univ Cambridge, MRC Canc Unit, Cambridge, England..
    Schwarz, Peter E. H.
    Univ Dresden, Med Fac Carl Gustav Carus, Dept Med 3, Dresden, Germany.;Univ Hosp, Paul Langerhans Inst Dresden, Helmholtz Ctr Munich, Dresden, Germany.;Tech Univ Dresden, Fac Med, Dresden, Germany.;German Ctr Diabet Res DZD, Neuherberg, Germany..
    Langenberg, Claudia
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England..
    Snieder, Harold
    Univ Groningen, Univ Med Ctr Groningen, Dept Epidemiol, Groningen, Netherlands..
    Caulfield, Mark J.
    Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Unit, London, England..
    Melander, E.
    Lund Univ, Dept Internal Med, Malmo, Sweden..
    Laakso, Markku
    Kuopio Univ Hosp, Dept Clin Physiol & Nucl Med, Kuopio, Finland..
    Saltevo, Juha
    Cent Finland Hlth Care Dist, Dept Med, Jyvaskyla, Finland..
    Rauramaa, Rainer
    Kuopio Res Inst Exercise Med, Kuopio, Finland.;Univ San Carlos, Dept Anthropol Sociol & Hist, Cebu, Philippines..
    Tuomilehto, Jaakko
    Natl Inst Hlth & Welf, Helsinki, Finland.;Dasman Diabet Inst, Dasman, Kuwait.;King Abdulaziz Univ, Saudi Diabet Res Grp, Jeddah, Saudi Arabia.;Danube Univ Krems, Ctr Vasc Prevent, Krems, Austria..
    Ingelsson, Erik
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular epidemiology. Uppsala University, Science for Life Laboratory, SciLifeLab. Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA..
    Lehtimaki, Terho
    Fimlab Labs, Dept Clin Chem, Tampere, Finland.;Univ Tampere, Dept Clin Chem, Sch Med, Tampere, Finland..
    Hveem, Kristian
    Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, Levanger, Norway..
    Palmas, Walter
    Columbia Univ, Dept Med, New York, NY USA..
    Marz, Winfried
    Synlab Acad, Synlab Serv, Mannheim, Germany.;Med Univ Graz, Clin Inst Med & Chem Lab Diagnost, Graz, Austria..
    Kumar, Meena
    UCL, Dept Epidemiol & Publ Hlth, Genet Epidemiol Grp, London, England..
    Salomaa, Veikko
    Natl Inst Hlth & Welf, Helsinki, Finland..
    Chen, Yii-Der I.
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Rotter, Jerome I.
    Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA.;Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA..
    Froguel, Philippe
    Iceland Heart Assoc, Kopavogur, Iceland.;Univ Lille 2, Lille, France.;Univ Dresden, Med Fac Carl Gustav Carus, Ctr Evidence Based Healthcare, Dresden, Germany.;Univ Munich, Univ Hosp Grosshadern, Dept Med 1, Munich, Germany..
    Jarvelin, Marjo-Riitta
    Univ Oulu, Bioctr Oulu, Oulu, Finland.;Natl Def Med Ctr, Coll Med, Taipei, Taiwan. Natl Univ Singapore, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore. Natl Univ Hlth Syst, Singapore, Singapore.;Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands.;Oulu Univ Hosp, Unit Primary Care, Oulu, Finland..
    Lakatta, Edward G.
    Univ Med Greifswald, Inst Community Med, Greifswald, Germany..
    Kuulasmaa, Kari
    Natl Inst Hlth & Welf, Helsinki, Finland..
    Franks, Paul W.
    Umea Univ, Dept Publ Hlth & Clin Med, Umea, Sweden.;Lund Univ, Genet & Mol Epidemiol Unit, Dept Clin Sci, Malmo, Sweden.;Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA USA..
    Hamsten, Anders
    Karolinska Inst, Dept Med, Cardiovasc Res Unit, Ctr Mol Med, Stockholm, Sweden.;Karolinska Univ Hosp Solna, Ctr Mol Med, Stockholm, Sweden..
    Wichmann, H-Erich
    Helmholtz Zentrum Munchen, Inst Epidemiol 1, Neuherberg, Germany.;Harokopio Univ, Dept Dietet Nutr, Athens, Greece.;Tech Univ Munich, Inst Med Stat & Epidemiol, Munich, Germany..
    Palmer, Colin N. A.
    Univ Dundee, Ninewells Hosp & Med Sch, Med Res Inst, Dundee, Scotland..
    Stefansson, Kari
    deCODE Genet Amgen Inc, Reykjavik, Iceland.;Univ Iceland, Fac Med, Reykjavik, Iceland..
    Ridker, Paul M.
    Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA.;Harvard Med Sch, Boston, MA USA..
    Loos, Ruth J. F.
    Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge Biomed Campus, Cambridge, England.;Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA.;Icahn Sch Med Mt Sinai, Mindich Child Hlth Dev Inst, New York, NY 10029 USA..
    Chalcravarti, Aravinda
    Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD USA..
    Deloukas, Panos
    Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England.;King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah, Saudi Arabia..
    Morris, Andrew P.
    Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England.;Univ Liverpool, Dept Biostat, Liverpool, Merseyside, England..
    Newton-Cheh, Christopher
    Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA USA.;Broad Inst MIT & Harvard, Cambridge, MA USA.;Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA.;Massachusetts Gen Hosp, Div Cardiol, Dept Med, Boston, MA 02114 USA..
    Munroe, Patricia B.
    Queen Mary Univ London, William Harvey Res Inst, Clin Pharmacol, London, England.;Queen Mary Univ London, NIHR Barts Cardiovasc Biomed Res Unit, London, England..
    The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals2016In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 48, no 10, p. 1171-1184Article in journal (Refereed)
    Abstract [en]

    To dissect the genetic architecture of blood pressure and assess effects on target organ damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 individuals of European ancestry, and genotypes from an additional 140,886 individuals were used for validation. We identified 66 blood pressure-associated loci, of which 17 were new; 15 harbored multiple distinct association signals. The 66 index SNPs were enriched for cis-regulatory elements, particularly in vascular endothelial cells, consistent with a primary role in blood pressure control through modulation of vascular tone across multiple tissues. The 66 index SNPs combined in a risk score showed comparable effects in 64,421 individuals of non-European descent. The 66-SNP blood pressure risk score was significantly associated with target organ damage in multiple tissues but with minor effects in the kidney. Our findings expand current knowledge of blood pressure-related pathways and highlight tissues beyond the classical renal system in blood pressure regulation.

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