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      Possible association between CTLA4 DNA polymorphisms and early onset type 1 diabetes in a UK population.

      Genes and Immunity
      Antigens, CD, Antigens, Differentiation, genetics, CTLA-4 Antigen, Case-Control Studies, DNA, Diabetes Mellitus, Type 1, ethnology, Humans, Immunoconjugates, Northern Ireland, Polymorphism, Genetic

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          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.

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