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  • 1. Bahl, Aileen
    et al.
    Pöllänen, Eija
    Ismail, Khadeeja
    Sipilä, Sarianna
    Mikkola, Tuija M
    Berglund, Eva C
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Lindqvist, Carl Mårten
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. Uppsala University, Science for Life Laboratory, SciLifeLab.
    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.
    Rantanen, Taina
    Kaprio, Jaakko
    Kovanen, Vuokko
    Ollikainen, Miina
    Hormone Replacement Therapy Associated White Blood Cell DNA Methylation and Gene Expression are Associated With Within-Pair Differences of Body Adiposity and Bone Mass2015In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 18, no 6, p. 647-661Article in journal (Refereed)
    Abstract [en]

    The loss of estrogen during menopause causes changes in the female body, with wide-ranging effects on health. Estrogen-containing hormone replacement therapy (HRT) leads to a relief of typical menopausal symptoms, benefits bone and muscle health, and is associated with tissue-specific gene expression profiles. As gene expression is controlled by epigenetic factors (including DNA methylation), many of which are environmentally sensitive, it is plausible that at least part of the HRT-associated gene expression is due to changes in DNA methylation profile. We investigated genome-wide DNA methylation and gene expression patterns of white blood cells (WBCs) and their associations with body composition, including muscle and bone measures of monozygotic (MZ) female twin pairs discordant for HRT. We identified 7,855 nominally significant differentially methylated regions (DMRs) associated with 4,044 genes. Of the genes with DMRs, five (ACBA1, CCL5, FASLG, PPP2R2B, and UHRF1) were also differentially expressed. All have been previously associated with HRT or estrogenic regulation, but not with HRT-associated DNA methylation. All five genes were associated with bone mineral content (BMC), and ABCA1, FASLG, and UHRF1 were also associated with body adiposity. Our study is the first to show that HRT associates with genome-wide DNA methylation alterations in WBCs. Moreover, we show that five differentially expressed genes with DMRs associate with clinical measures, including body fat percentage, lean body mass, bone mass, and blood lipids. Our results indicate that at least part of the known beneficial HRT effects on body composition and bone mass may be regulated by DNA methylation associated alterations in gene expression in circulating WBCs.

  • 2.
    Catalano, Ralph A.
    et al.
    Univ Calif Berkeley, Sch Publ Hlth, 50 Univ Hall, Berkeley, CA 94720 USA..
    Saxton, Katherine B.
    Santa Clara Univ, Dept Biol, Santa Clara, CA USA..
    Gemmill, Alison
    Univ Calif Berkeley, Dept Demog, Berkeley, CA 94720 USA..
    Hartig, Terry
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Social Sciences, Institute for Housing and Urban Research.
    Twinning in Norway Following the Oslo Massacre: Evidence of a "Bruce Effect' in Humans2016In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 19, no 5, p. 485-491Article in journal (Refereed)
    Abstract [en]

    Emerging theory and empirical work suggest that the Bruce Effect', or the increase in spontaneous abortion observed in non-human species when environments become threatening to offspring survival, may also appear in humans. We argue that, if it does, the effect would appear in the odds of twins among male and female live births. We test the hypothesis, implied by our argument, that the odds of a twin among male infants in Norway fell below, while those among females rose above, expected levels among birth cohorts in gestation in July 2011 when a deranged man murdered 77 Norwegians, including many youths. Results support the hypothesis and imply that the Bruce Effect operates in women to autonomically raise the standard of fetal fitness necessary to extend the gestation of twins. This circumstance has implications for using twins to estimate the relative contributions of genes and environment to human responses to exogenous stimuli.

  • 3. Karasek, Deborah
    et al.
    Goodman, Julia
    Gemmill, Alison
    Falconi, April
    Hartig, Terry
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Social Sciences, Institute for Housing and Urban Research.
    Magganas, Aristotle
    Catalano, Ralph
    Twins Less Frequent Than Expected Among Male Births in Risk Averse Populations2015In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 18, no 3, p. 314-320Article in journal (Refereed)
    Abstract [en]

    Male twin gestations exhibit higher incidence of fetal morbidity and mortality than singleton gestations. From an evolutionary perspective, the relatively high rates of infant and child mortality among male twins born into threatening environments reduce the fitness of these gestations, making them more vulnerable to fetal loss. Women do not perceive choosing to spontaneously abort gestations although the outcome may result from estimates, made without awareness, of the risks of continuing a pregnancy. Here, we examine whether the non-conscious decisional biology of gestation can be linked to conscious risk aversion. We test this speculation by measuring the association between household surveys in Sweden that gauge financial risk aversion in the population and the frequency of twins among live male births. We used time-series regression methods to estimate our suspected associations and Box-Jenkins modeling to ensure that autocorrelation did not confound the estimation or reduce its efficiency. We found, consistent with theory, that financial risk aversion in the population correlates inversely with the odds of a twin among Swedish males born two months later. The odds of a twin among males fell by approximately 3.5% two months after unexpectedly great risk aversion in the population. This work implies that shocks that affect population risk aversion carry implications for fetal loss in vulnerable twin pregnancies.

  • 4. Magnusson, Patrik K E
    et al.
    Almqvist, Catarina
    Rahman, Iffat
    Ganna, Andrea
    Viktorin, Alexander
    Walum, Hasse
    Halldner, Linda
    Lundström, Sebastian
    Ullén, Fredrik
    Långström, Niklas
    Larsson, Henrik
    Nyman, Anastasia
    Gumpert, Clara Hellner
    Råstam, Maria
    Anckarsäter, Henrik
    Cnattingius, Sven
    Johannesson, Magnus
    Ingelsson, Erik
    Department of Medical Epidemiology and Biostatistics, Karolinska Institutet.
    Klareskog, Lars
    de Faire, Ulf
    Pedersen, Nancy L
    Lichtenstein, Paul
    The Swedish Twin Registry: establishment of a biobank and other recent developments2013In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 16, no 1, p. 317-329Article in journal (Refereed)
    Abstract [en]

    The Swedish Twin Registry (STR) today contains more than 194,000 twins and more than 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or by being of opposite sex. Of these, approximately 20,000, 25,000, and 30,000 pairs are monozygotic, same-sex dizygotic, and opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, the STR has been an important epidemiological resource for the study of genetic and environmental influences on a multitude of traits, behaviors, and diseases. Following large investments in the collection of biological specimens in the past 10 years we have now established a Swedish twin biobank with DNA from 45,000 twins and blood serum from 15,000 twins, which effectively has also transformed the registry into a powerful resource for molecular studies. We here describe the main projects within which the new collections of both biological samples as well as phenotypic measures have been collected. Coverage by year of birth, zygosity determination, ethnic heterogeneity, and influences of in vitro fertilization are also described.

  • 5.
    Magnusson, Patrik K. E.
    et al.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden..
    Lee, Donghwan
    Ewha Womans Univ, Dept Stat, Seoul, South Korea..
    Chen, Xu
    Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden..
    Szatkiewicz, Jin
    Univ N Carolina, Dept Genet, Chapel Hill, NC USA..
    Pramana, Setia
    Inst Stat, Jakarta, Indonesia..
    Teo, Shumei
    Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden..
    Sullivan, Patrick F.
    Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden.;Univ N Carolina, Dept Genet, Chapel Hill, NC USA..
    Feuk, Lars
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medicinsk genetik och genomik. Uppsala University, Science for Life Laboratory, SciLifeLab.
    Pawitan, Yudi
    Karolinska Inst, Dept Med Epidemiol & Biostat, Box 281, S-17177 Stockholm, Sweden..
    One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins2016In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 19, no 2, p. 97-103Article in journal (Refereed)
    Abstract [en]

    Monozygotic (MZ) twins stem from the same single fertilized egg and therefore share all their inherited genetic variation. This is one of the unequivocal facts on which genetic epidemiology and twin studies are based. To what extent this also implies that MZ twins share genotypes in adult tissues is not precisely established, but a common pragmatic assumption is that MZ twins are 100% genetically identical also in adult tissues. During the past decade, this view has been challenged by several reports, with observations of differences in post-zygotic copy number variations (CNVs) between members of the same MZ pair. In this study, we performed a systematic search for differences of CNVs within 38 adult MZ pairs who had been misclassified as dizygotic (DZ) twins by questionnaire-based assessment. Initial scoring by PennCNV suggested a total of 967 CNV discor dances. The within-pair correlation in number of CNVs detected was strongly dependent on confidence score filtering and reached a plateau of r = 0.8 when restricting to CNVs detected with confidence score larger than 50. The top-ranked discordances were subsequently selected for validation by quantitative polymerase chain reaction (qPCR), from which one single similar to 120kb deletion in NRXN1 on chromosome 2 (bp 51017111-51136802) was validated. Despite involving an exon, no sign of cognitive/mental consequences was apparent in the affected twin pair, potentially reflecting limited or lack of expression of the transcripts containing this exon in nerve/brain.

  • 6.
    Oskarsson, Sven
    et al.
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Social Sciences, Department of Government.
    Dawes, Christopher
    Johannesson, Magnus
    Magnusson, Patrik K. E.
    The Genetic Origins of the Relationship between Psychological Traits and Social Trust2012In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 15, no 1, p. 21-33Article in journal (Refereed)
    Abstract [en]

    Recent studies have shown that trusting attitudes and behavior are biologically influenced. Focusing on the classic trust game, it has been demonstrated that oxytocin increases trust and that humans are endowed with genetic variation that influences their behavior in the game. Moreover, several studies have shown that a large share of the variation in survey responses to trust items is accounted for by an additive genetic component. Against this backdrop, this article makes two important contributions. First, utilizing a unique sample of more than 2,000 complete Swedish twin pairs, we provide further evidence of the heritability of social trust. Our estimates of the additive genetic component in social trust were consistent across the sexes - .33 for males and .39 for females - and are similar to the results reported in earlier studies. Secondly, we show that social trust is phenotypically related to three psychological traits - extraversion, personal control, and intelligence - and that genetic factors account for most of these correlations. Jointly, these psychological factors share around 30% of the genetic influence on social trust both for males and females. Future studies should further explore the possible causal pathways between genes and trust using panel data on both psychological traits and social trust.

  • 7. Surakka, Ida
    et al.
    Whitfield, John B
    Perola, Markus
    Visscher, Peter M
    Montgomery, Grant W
    Falchi, Mario
    Willemsen, Gonneke
    de Geus, Eco J C
    Magnusson, Patrik K E
    Christensen, Kaare
    Sørensen, Thorkild I A
    Pietiläinen, Kirsi H
    Rantanen, Taina
    Silander, Kaisa
    Widén, Elisabeth
    Muilu, Juha
    Rahman, Iffat
    Liljedahl, Ulrika
    Syvänen, Ann-Christine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine.
    Palotie, Aarno
    Kaprio, Jaakko
    Kyvik, Kirsten O
    Pedersen, Nancy L
    Boomsma, Dorret I
    Spector, Tim
    Martin, Nicholas G
    Ripatti, Samuli
    Peltonen, Leena
    A Genome-Wide Association Study of Monozygotic Twin-Pairs Suggests a Locus Related to Variability of Serum High-Density Lipoprotein Cholesterol2012In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 15, no 6, p. 691-699Article in journal (Refereed)
    Abstract [en]

    Genome-wide association analysis on monozygotic twin-pairs offers a route to discovery of gene-environment interactions through testing for variability loci associated with sensitivity to individual environment/lifestyle. We present a genome-wide scan of loci associated with intra-pair differences in serum lipid and apolipoprotein levels. We report data for 1,720 monozygotic female twin-pairs from GenomEUtwin project with 2.5 million SNPs, imputed or genotyped, and measured serum lipid fractions for both twins. We found one locus associated with intra-pair differences in high-density lipoprotein cholesterol, rs2483058 in an intron of SRGAP2, where twins carrying the C allele are more sensitive to environmental factors (P = 3.98 × 10-8). We followed up the association in further genotyped monozygotic twins (N = 1,261), which showed a moderate association for the variant (P = 0.200, same direction of an effect). In addition, we report a new association on the level of apolipoprotein A-II (P = 4.03 × 10-8).

  • 8. Svedberg, Pia
    et al.
    Johansson, Saga
    Wallander, Mari-Ann
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Family Medicine and Clinical Epidemiology.
    Pedersen, Nancy L.
    No evidence of sex differences in heritability of irritable bowel syndrome in Swedish twins.2008In: Twin Research and Human Genetics, ISSN 1832-4274, E-ISSN 1839-2628, Vol. 11, no 2, p. 197-203Article in journal (Refereed)
    Abstract [en]

    Studies have shown that familial aggregation is of importance for abdominal symptoms including irritable bowel syndrome and there are a few reports of a moderate heritability for irritable bowel syndrome. Sex differences in prevalence and incidence of irritable bowel syndrome have been demonstrated however less is known about sex differences in heritability. The objective was to investigate whether there were sex differences in heritability of irritable bowel syndrome while accounting for different prevalences among women and men in different age groups. A sample of 45,750 Swedish twins, whereof 16,961 were complete twin pairs, participated in a telephone interview. The sample was divided into three age groups (40-54, 55-64 and 65 years and older) and the diagnosis of irritable bowel syndrome was operationally defined with a number of disorder specific symptoms. Standard biometrical model fitting analyses were conducted using raw ordinal data from same-sex and opposite-sex twins. The prevalence of irritable bowel syndrome was greater among women than men and more prevalent at younger ages (e.g., women 10.3%, men 6.3% at ages 40-54 years vs. women 6.1%, men 4% at ages over 65 years). The heritability of the disorder was approximately 25% in all age groups. We found no evidence for sex differences in heritability in any of the age groups, however, models allowing prevalences of irritable bowel syndrome to differ between sexes and age groups fitted best.

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