title: The IL12B 3' untranslated region DNA polymorphism is not associated with early-onset type 1 diabetes.
abstract: A recent study employing Australian and UK type 1 diabetes families has demonstrated significant transmission bias to affected offspring of a polymorphism (1188A allele; termed allele 1) in the 3' untranslated region (3'UTR) of the interleukin 12B (IL12B) gene which encodes the IL-12p40 subunit of the pro-inflammatory cytokine IL-12. However, results from replication studies in other populations have been controversial. We performed both case-control (n=120 cases; n=330 controls) and family-based (n=307 families) association studies, using the transmission disequilibrium test, to investigate if allele 1 is associated with early-onset type 1 diabetes in Northern Ireland. No association was observed between allele 1 and type 1 diabetes in either case-control (80.8% vs 80.8%; P=0.98) or family-based (49.7% transmissions; P=0.94) studies. Our results do not support earlier reports of an association between allele 1 in the 3'UTR of the IL12B gene and type 1 diabetes.
authors.affiliation: Department of Medical Genetics, Queen's University Belfast, Belfast, Northern Ireland.
authors.forename: R M
authors.initials: RM
authors.lastname: McCormack
authors.forename: A P
authors.initials: AP
authors.lastname: Maxwell
authors.forename: D J
authors.initials: DJ
authors.lastname: Carson
authors.forename: C C
authors.initials: CC
authors.lastname: Patterson
authors.forename: D
authors.initials: D
authors.lastname: Middleton
authors.forename: D A
authors.initials: DA
authors.lastname: Savage
mesh_terms: D020413:3' Untranslated Regions; D000293:Adolescent; D017668:Age of Onset; D016022:Case-Control Studies; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D018664:Interleukin-12 / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D020413:3' Untranslated Regions; D018664:Interleukin-12