title: Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population.
abstract: Linkage and association has been reported between CTLA4 DNA markers and susceptibility to type 1 diabetes in some populations, but not others. We performed case-control and family-based association studies to assess if the CTLA4 A49G and intron 1 C/T polymorphisms were associated with development of early onset type 1 diabetes in the Northern Ireland population. The distribution of A49G and C/T alleles in cases (n = 144) was similar to those observed in controls (n = 307). In contrast, significant distortions in allele transmissions from informative parents to probands were observed for both the A49G (P = 0.02) and C/T (P = 0.01) polymorphisms employing 297 nuclear families. Our results suggest that the CTLA4 gene may play a minor role in the overall genetic predisposition to type 1 diabetes in this UK population.
authors.affiliation: Department of Medical Genetics, The Queen's University of Belfast, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, 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
authors.initials: D
authors.lastname: Carson
authors.forename: C C
authors.initials: CC
authors.lastname: Patterson
authors.forename: A
authors.initials: A
authors.lastname: Bingham
authors.forename: D A
authors.initials: DA
authors.lastname: Savage
mesh_terms: D000069594:Abatacept; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D018796:Immunoconjugates; D009660:Northern Ireland; D011110:Polymorphism, Genetic
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018796:Immunoconjugates; D000069594:Abatacept; D004247:DNA