【摘要】 目的　探讨自身免疫性甲状腺疾病的遗传易感性与人类白细胞抗原 (HLA) DRB1、HLA DQB1基因之间的相关性。方法　应用聚合酶链反应 序列特异性引物 (PCR SSP)技术对已经确诊的湖北汉族儿童桥本甲状腺炎 46例、Graves病 2 0例、单纯性甲状腺肿 2 7例和正常对照组 193名进行HLA DRB1、HLA DQB1基因多态性分析。结果　桥本甲状腺炎患儿组HLA DRB1 0 90 1、HLA DQB1 0 80X和HLA DQB1 0 30 3等位基因频率较正常对照组显著增高 (统计学分析分别为 6 7%、2 8.5 % ,RR =5 .2 ,P =1.9× 10 -6;39%、16 .1% ,RR =3.4,P =1.0× 10 -3 和 5 6 %、35 .0 % ,RR =2 .4,P =1.1×10 -3 )。Graves病患儿组则仅见HLA DRB1 0 90 1基因频率较正常对照组显著增高 (6 5 %、2 8.5 % ,RR =4.7,P =1.8× 10 -3 )。结论　桥本甲状腺炎和Graves病的发病与HLA DRB1 0 90 1密切关联 ,且桥本甲状腺炎的发病还与HLA DRB1 0 80X和HLA DQB1 0 30 3关联。提示它们是中国湖北汉族人自身免疫性甲状腺疾病的易感基因。更多还原

【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 46 children 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.更多还原