Genetic architecture of type 2 diabetes |
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Authors: | Kazuo Hara Nobuhiro ShojimaJun Hosoe Takashi Kadowaki |
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Institution: | The Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan |
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Abstract: | Genome-wide association studies (GWAS) have identified over 70 loci associated with type 2 diabetes (T2D). Most genetic variants associated with T2D are common variants with modest effects on T2D and are shared with major ancestry groups. To what extent the genetic component of T2D can be explained by common variants relies upon the shape of the genetic architecture of T2D. Fine mapping utilizing populations with different patterns of linkage disequilibrium and functional annotation derived from experiments in relevant tissues are mandatory to track down causal variants responsible for the pathogenesis of T2D. |
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Keywords: | Genome-wide association studies Single nucleotide polymorphism Type 2 diabetes mellitus Risk allele frequency Linkage disequilibrium |
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