Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
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DOI：
10.1126/science.1142364
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发表时间：
2007-06-01
期刊：
影响因子：
--
通讯作者：
Hattersley AT
中科院分区：
文献类型：
--
作者：
Zeggini E;Weedon MN;Lindgren CM;Frayling TM;Elliott KS;Lango H;Timpson NJ;Perry JR;Rayner NW;Freathy RM;Barrett JC;Shields B;Morris AP;Ellard S;Groves CJ;Harries LW;Marchini JL;Owen KR;Knight B;Cardon LR;Walker M;Hitman GA;Morris AD;Doney AS;Wellcome Trust Case Control Consortium (WTCCC);McCarthy MI;Hattersley AT
2型糖尿病的发病机制尚不清楚。从Wellcome Trust Case Control Consortium生成的1，924例糖尿病病例和2，938例人群对照的全基因组基因型数据开始，我们通过分析3，757例额外病例和5，346例对照，并将我们的发现与其他国际财团的等效数据相结合，开始检测重复的糖尿病相关信号。我们检测了基因CDKAL 1、CDKN 2A/CDKN 2B和IGF 2BP 2中及其周围的糖尿病易感位点，并证实了最近描述的HHEX/IDE和SLC 30 A8的相关性。我们的研究结果为2型糖尿病的遗传结构提供了深入的见解，强调了多种适度影响的变异的贡献。所确定的区域强调了影响胰腺β细胞发育和功能的途径在2型糖尿病病因学中的重要性。
The molecular mechanisms involved in the development of type 2 diabetes are poorly understood. Starting from genome-wide genotype data for 1,924 diabetic cases and 2,938 population controls generated by the Wellcome Trust Case Control Consortium, we set out to detect replicated diabetes association signals through analysis of 3,757 additional cases and 5,346 controls, and by integration of our findings with equivalent data from other international consortia. We detected diabetes susceptibility loci in and around the genes CDKAL1, CDKN2A/CDKN2B and IGF2BP2 and confirmed the recently described associations at HHEX/IDE and SLC30A8. Our findings provide insights into the genetic architecture of type 2 diabetes, emphasizing the contribution of multiple variants of modest effect. The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes.
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