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A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

被引：494
作者：
Smyth, Deborah J.
Cooper, Jason D.
Bailey, Rebecca
Field, Sarah
Burren, Oliver
Smink, Luc J.
Guja, Cristian
Ionescu-Tirgoviste, Constantin
Widmer, Barry
Dunger, David B.
Savage, David A.
Walker, Neil M.
Clayton, David G.
Todd, John A.
机构：
[1] Addenbrookes Hosp, Cambridge Inst Med Res, Juvenile Diabet Res Fdn, Wellcome Trust Diabet & Inflammat Lab, Cambridge CB2 2XY, England
[2] Inst Diabet Nutr & Metab Dis N Paulescu, Clin Diabet, Bucharest 79811, Romania
[3] Univ Cambridge, Addenbrookes Hosp, Dept Paediat, Cambridge CB2 2XY, England
[4] Queens Univ Belfast, Dept Med Genet, Belfast BT9 7AB, Antrim, North Ireland
来源：
NATURE GENETICS | 2006年 / 38卷 / 06期
基金：
英国惠康基金; 英国医学研究理事会;
关键词：
D O I：
10.1038/ng1800
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In this study we report convincing statistical support for a sixth type 1 diabetes (T1D) locus in the innate immunity viral RNA receptor gene region IFIH1 (also known as mda-5 or Helicard) on chromosome 2q24.3. We found the association in an interim analysis of a genome-wide nonsynonymous SNP (nsSNP) scan, and we validated it in a case-control collection and replicated it in an independent family collection. In 4,253 cases, 5,842 controls and 2,134 parent-child trio genotypes, the risk ratio for the minor allele of the nsSNP rs1990760 A -> G (A946T) was 0.86 (95% confidence interval = 0.82-0.90) at P = 1.42 x 10(-10).
引用
收藏
页码：617 / 619
页数：3
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