uu.seUppsala universitets publikationer
Ändra sökning
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
Visa övriga samt affilieringar
2011 (Engelska)Ingår i: Nat Genet, Vol. 43, nr 6, s. 561-4Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Genome-wide association studies have identified many genetic variants associated with complex traits. However, at only a minority of loci have the molecular mechanisms mediating these associations been characterized. In parallel, whereas cis regulatory patterns of gene expression have been extensively explored, the identification of trans regulatory effects in humans has attracted less attention. Here we show that the type 2 diabetes and high-density lipoprotein cholesterol-associated cis-acting expression quantitative trait locus (eQTL) of the maternally expressed transcription factor KLF14 acts as a master trans regulator of adipose gene expression. Expression levels of genes regulated by this trans-eQTL are highly correlated with concurrently measured metabolic traits, and a subset of the trans-regulated genes harbor variants directly associated with metabolic phenotypes. This trans-eQTL network provides a mechanistic understanding of the effect of the KLF14 locus on metabolic disease risk and offers a potential model for other complex traits.

Ort, förlag, år, upplaga, sidor
2011. Vol. 43, nr 6, s. 561-4
Nyckelord [en]
Adipose Tissue/*metabolism, Cholesterol, HDL/*genetics, Diabetes Mellitus, Type 2/*genetics, Female, *Gene Expression Regulation, Genome-Wide Association Study, *Genomic Imprinting, Humans, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Sp Transcription Factors/*genetics
Nationell ämneskategori
Medicin och hälsovetenskap
Identifikatorer
URN: urn:nbn:se:uu:diva-275653ISBN: 1546-1718 (Electronic) 1061-4036 (Linking) (tryckt)OAI: oai:DiVA.org:uu-275653DiVA, id: diva2:900620
Anmärkning

Small, Kerrin S Hedman, Asa K Grundberg, Elin Nica, Alexandra C Thorleifsson, Gudmar Kong, Augustine Thorsteindottir, Unnur Shin, So-Youn Richards, Hannah B GIANT Consortium MAGIC Investigators DIAGRAM Consortium Soranzo, Nicole Ahmadi, Kourosh R Lindgren, Cecilia M Stefansson, Kari Dermitzakis, Emmanouil T Deloukas, Panos Spector, Timothy D McCarthy, Mark I MuTHER Consortium 081917/Wellcome Trust/United Kingdom R01 MH090941/MH/NIMH NIH HHS/United States Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't United States Nature genetics Nat Genet. 2011 Jun;43(6):561-4. doi: 10.1038/ng.833. Epub 2011 May 15.

Tillgänglig från: 2016-02-04 Skapad: 2016-02-04 Senast uppdaterad: 2016-02-05

Open Access i DiVA

Fulltext saknas i DiVA

Övriga länkar

http://www.ncbi.nlm.nih.gov/pubmed/21572415

Personposter BETA

Hedman, Åsa K.

Sök vidare i DiVA

Av författaren/redaktören
Hedman, Åsa K.
Medicin och hälsovetenskap

Sök vidare utanför DiVA

GoogleGoogle Scholar

isbn
urn-nbn

Altmetricpoäng

isbn
urn-nbn
Totalt: 232 träffar
RefereraExporteraLänk till posten
Permanent länk

Direktlänk
Referera
Referensformat
  • apa
  • ieee
  • modern-language-association
  • vancouver
  • Annat format
Fler format
Språk
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Annat språk
Fler språk
Utmatningsformat
  • html
  • text
  • asciidoc
  • rtf