title: A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.
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).
authors.affiliation: 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.
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Smyth
authors.forename: Jason D
authors.initials: JD
authors.lastname: Cooper
authors.forename: Rebecca
authors.initials: R
authors.lastname: Bailey
authors.forename: Sarah
authors.initials: S
authors.lastname: Field
authors.forename: Oliver
authors.initials: O
authors.lastname: Burren
authors.forename: Luc J
authors.initials: LJ
authors.lastname: Smink
authors.forename: Cristian
authors.initials: C
authors.lastname: Guja
authors.forename: Constantin
authors.initials: C
authors.lastname: Ionescu-Tirgoviste
authors.forename: Barry
authors.initials: B
authors.lastname: Widmer
authors.forename: David B
authors.initials: DB
authors.lastname: Dunger
authors.forename: David A
authors.initials: DA
authors.lastname: Savage
authors.forename: Neil M
authors.initials: NM
authors.lastname: Walker
authors.forename: David G
authors.initials: DG
authors.lastname: Clayton
authors.forename: John A
authors.initials: JA
authors.lastname: Todd
mesh_terms: 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*
chemical_list: C452815:IFIH1 protein, human; D053487:DEAD-box RNA Helicases; D000072640:Interferon-Induced Helicase, IFIH1; D020365:RNA Helicases