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.
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.
Biochem Biophys Res Commun. 2014 Sep 19;452(2):213-20. doi: 10.1016/j.bbrc.2014.08.012. Epub 2014 Aug 8.
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.
全基因组关联研究 (GWAS) 已经确定了 70 多个与 2 型糖尿病 (T2D) 相关的基因位点。大多数与 T2D 相关的遗传变异是常见的变异，对 T2D 的影响较小，并且与主要的祖先群体共享。T2D 的遗传成分在多大程度上可以用常见的变异来解释，这取决于 T2D 的遗传结构的形状。精细映射利用具有不同连锁不平衡模式的人群，并利用相关组织中的实验进行功能注释，是追踪导致 T2D 发病机制的因果变异所必需的。
