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The genetic architecture of type 2 diabetes
Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA.;Med Univ Innsbruck, Dept Med Genet Mol & Clin Pharmacol, Div Genet Epidemiol, Innsbruck, Austria.;Univ Lubeck, European Acad Bolzano Bozen EURAC, Ctr Biomed, Bolzano, Italy..
Broad Inst, Program Med & Populat Genet, Cambridge, MA USA.;Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA..
Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA..
Univ Oxford, Wellcome Trust Ctr Human Genet, Nuffield Dept Med, Oxford, England..
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2016 (English)In: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 536, no 7614, 41-47 p.Article in journal (Refereed) Published
Abstract [en]

The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.

Place, publisher, year, edition, pages
2016. Vol. 536, no 7614, 41-47 p.
National Category
Endocrinology and Diabetes
Identifiers
URN: urn:nbn:se:uu:diva-305941DOI: 10.1038/nature18642ISI: 000380999200026PubMedID: 27398621OAI: oai:DiVA.org:uu-305941DiVA: diva2:1045166
Funder
Wellcome trustNIH (National Institute of Health)
Available from: 2016-11-08 Created: 2016-10-24 Last updated: 2016-11-08Bibliographically approved

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