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. 2006 Jun;38(6):617-9.
doi: 10.1038/ng1800. Epub 2006 May 14.

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

Deborah J Smyth  1 , Jason D Cooper, Rebecca Bailey, Sarah Field, Oliver Burren, Luc J Smink, Cristian Guja, Constantin Ionescu-Tirgoviste, Barry Widmer, David B Dunger, David A Savage, Neil M Walker, David G Clayton, John A Todd
Affiliations

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

Deborah J Smyth et al. Nat Genet. 2006 Jun.

Abstract

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).

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