A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region by 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 in Nature genetics (2006). PubMed

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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