全基因组关联研究
表达数量性状基因座
生物
遗传学
数量性状位点
遗传关联
基因座(遗传学)
基因
2型糖尿病
单核苷酸多态性
糖尿病
基因型
内分泌学
作者
Cassandra N. Spracklen,Momoko Horikoshi,Young Jin Kim,Kuang Lin,Fiona Bragg,Sanghoon Moon,Ken Suzuki,Claudia H.T. Tam,Yasuharu Tabara,Soo‐Heon Kwak,Fumihiko Takeuchi,Jirong Long,Victor Lim,Jin Fang Chai,Chien-Hsiun Chen,Masahiro Nakatochi,Jie Yao,Hyeok Sun Choi,Apoorva K. Iyengar,Hannah J. Perrin
出处
期刊:Nature
[Nature Portfolio]
日期:2020-05-06
卷期号:582 (7811): 240-245
被引量:360
标识
DOI:10.1038/s41586-020-2263-3
摘要
Meta-analyses of genome-wide association studies (GWAS) have identified more than 240 loci that are associated with type 2 diabetes (T2D)1,2; however, most of these loci have been identified in analyses of individuals with European ancestry. Here, to examine T2D risk in East Asian individuals, we carried out a meta-analysis of GWAS data from 77,418 individuals with T2D and 356,122 healthy control individuals. In the main analysis, we identified 301 distinct association signals at 183 loci, and across T2D association models with and without consideration of body mass index and sex, we identified 61 loci that are newly implicated in predisposition to T2D. Common variants associated with T2D in both East Asian and European populations exhibited strongly correlated effect sizes. Previously undescribed associations include signals in or near GDAP1, PTF1A, SIX3, ALDH2, a microRNA cluster, and genes that affect the differentiation of muscle and adipose cells3. At another locus, expression quantitative trait loci at two overlapping T2D signals affect two genes-NKX6-3 and ANK1-in different tissues4-6. Association studies in diverse populations identify additional loci and elucidate disease-associated genes, biology, and pathways.
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