Summary
A group of patients with Type 1 (insulin-dependent) diabetes mellitus was investigated for HLA-A, B and DR antigens as well as C4 and factor B polymorphism. A significant excess of DR3/DR4 heterozygotes was observed (27% versus 17% by Hardy-Weinberg expectation). The factor B allele BfF1 was present in 13% of patients with Type 1 diabetes (gene frequency of 0.08 versus 0.01 in control subjects). A rare C4 B allele, C4 B2.9, was found in 18% of patients with Type 1 diabetes (n=63) compared with 1.1% of control subjects (n=176). Total C4 deficiency at the C4A locus (C4AQ0,0) was present in 10% of patients with Type 1 diabetes compared with 0% of control subjects. Examination of HLA, C4 and Bf phenotypes in patients with Type 1 diabetes suggested that three high risk supratypes, HLA-A1 B8 BfS C4AQ0 C4 B1 DR3; HLA-B18 BfF1 C4A3 C4BQ0 DR3; HLA-A2 CW3 BW62 BfS C4A3 C4 B2.9 DR4 are markers for susceptibility alleles.
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McCluskey, J., McCann, V.J., Kay, P.H. et al. HLA and complement allotypes in Type 1 (insulin-dependent) diabetes. Diabetologia 24, 162–165 (1983). https://doi.org/10.1007/BF00250155
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DOI: https://doi.org/10.1007/BF00250155