A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.
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).
Smyth
Deborah J
DJ
Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, Wellcome Trust/MRC Building, Addenbrooke's Hospital, Hills Road, Cambridge CB2 2XY, UK.
Cooper
Jason D
JD
Bailey
Rebecca
R
Field
Sarah
S
Burren
Oliver
O
Smink
Luc J
LJ
Guja
Cristian
C
Ionescu-Tirgoviste
Constantin
C
Widmer
Barry
B
Dunger
David B
DB
Savage
David A
DA
Walker
Neil M
NM
Clayton
David G
DG
Todd
John A
JA
D002889:Chromosomes, Human, Pair 2; D053487:DEAD-box RNA Helicases; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D000072640:Interferon-Induced Helicase, IFIH1; D020641:Polymorphism, Single Nucleotide; D020365:RNA Helicases / Q000235:genetics*
C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1; D020365:RNA Helicases