HLA-DR3 and variations of the T cell receptor beta gene in Graves' disease.

The association of Graves' disease with two allelic forms of the T cell receptor beta-chain gene (Bgl II restriction fragments 9.2/10.0 kb) was analysed in Caucasians suffering from Graves' disease (N = 54), randomly selected controls (N = 68), and HLA-DR3 homozygous typing control subjects (N = 12). While gene frequencies did not vary in the latter two groups, a significant reduction of 9.2 kb homozygosity was observed in patients with Graves' disease (11 vs 32%, chi 2 = 7.68, p less than 0.01, RR = 0.26). The excess of the 9.2/10.0 kb heterozygosity in patients, which is restricted to the DR3-positive individuals, did not reach significance. The increase in heterozygosity of genomic T cell receptor beta-chain polymorphisms may be attributed to the role the beta-chain plays in autoantigen recognition in Graves' disease.