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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).

Original publication




Journal article


Nat Genet

Publication Date





617 - 619


Chromosomes, Human, Pair 2, DEAD-box RNA Helicases, Diabetes Mellitus, Type 1, Genome, Human, Genotype, Humans, Polymorphism, Single Nucleotide, RNA Helicases