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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Nat. Genet. 44, 981-990 (2012)
To extend understanding of the genetic architecture and molecular basis of type 2 diabetes (T2D), we conducted a meta-analysis of genetic variants on the Metabochip, including 34,840 cases and 114,981 controls, overwhelmingly of European descent. We identified ten previously unreported T2D susceptibility loci, including two showing sex-differentiated association. Genomewide analyses of these data are consistent with a long tail of additional common variant loci explaining much of the variation in susceptibility to T2D. Exploration of the enlarged set of susceptibility loci implicates several processes, including CREBBP-related transcription, adipocytokine signaling and cell cycle regulation, in diabetes pathogenesis.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-Wide Association; Susceptibility Loci; Insulin-Resistance; Common Variants; Metaanalysis; Risk; Expression; Snps; Map; Individuals