Abstract

Hashimoto's thyroiditis and Graves disease are autoimmune diseases of the thyroid. It has been widely accepted that immunogenetic factors are involved in the pathogenesis of both diseases. Inherited susceptibility has shown the association with human leukocyte antigen (HLA) class II region. Objective To investigate the correlation of genotypes of HLA-DRB1 and DQB1 alleles with the susceptibility of autoimmune thyroid diseases. Methods Genotypes of HLA-DRB1 and DQB1 genes were detected by polymerase chain reactions with sequence-specific primers (PCR-SSP) in Chinese Han children from Hubei, which included 46children with Hashimoto's thyroiditis [10 boys and 36 girls, mean age (11.3 ±2.9) yr] , 20 children with Graves disease [6 boys and 14 girls, mean age (9.1 ± 2.9) yr] , 27 children with simple goiter [10 boys and 17 girls, mean age (7.1±2.0) yr] as well as 193 racially matched healthy controls. Results The frequencies of HLA-DRB1 * 0901 were significantly increased in both children with Hashimoto's thyroiditis [67%, relative risk (RR) =5.2, P= 1.9×10-6] and Graves disease (65%, RR = 4.7, P = 1.8 × 10-3) compared with that in healthy people (28.5%) . The frequencies of HLA DQB1 * 080X and DQB1 * 0303 were significantly increased in Hashimoto's thyroiditis (DQB1 * 080X , 39% vs. 16% , RR = 3.4, P = 1.0 × 10-3, and DQB1 * 0303, 56% vs. 35%, RR = 2.4, P = 1.1 ×10-3) . Conclusion Hashimoto's thyroiditis and Graves disease were found strongly positive associated with HLA-DRB1 * 0901, whereas DRB1 * 080X and DQB1 * 0303 were also closely associated to Hashimoto's thyroiditis. The HLA-DRB1 * 0901 and 080X and DQB1 * 0303 alleles might be the genetic markers for susceptibility to autoimmune thyroid diseases in Chinese people. Key words: Thyroid diseases; Autoimmune diseases; HLA-DR1 antigen; HLA-DQ antigen; Disease susceptibility

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