[DNA typing of HLA antigen in patients with autoimmune thyroid disease using the PCR-SSOP method]

The purpose of this study was to investigate HLA-linked genetic factors involved in the pathogenesis of autoimmune thyroid disease such as Graves' disease and Hashimoto's thyroiditis. In 76 Graves' disease patients and 317 healthy Japanese controls, HLA-A, -B, -C, DR and DQ specificities were determined by serologic typing and HLA-DPB1 alleles were typed by DNA typing using the PCR-SSOP method. The frequencies of HLA-A2, B46 and DPB1*0501 were increased in Graves' patients. The highest odds ratio (10.5) was observed in individuals possessing both DPB1*0501 and HLA-A2. This observation suggests a synergic involvement of HLA class II allele (DPB1*0501) and an HLA class I allele (HLA-A2) in the pathogenesis of Graves' disease. Genotypes of DQA1 and DQB1 genes were determined by the PCR-SSOP method in 105 patients with goitrous Hashimoto's thyroiditis to investigate whether specific DQ alleles were associated with susceptibility or resistance to autoimmune thyroid disease. Hashimoto's thyroiditis was found to be negatively associated with DQA1*0102 and DQB1*0602. No strong positive association with a specific DQ allele was found in Hashimoto's thyroiditis. These results suggest that the HLA-DQ gene may be a genetic marker for resistance to Hashimoto's thyroiditis.