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

页码：617 / 619

页数：3

共 15 条

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