TSH受体基因多态性(D36H)与自身免疫性甲状腺疾病的关系

目的 :探讨TSH受体 (TSHR)基因 3 6D→H变异在中国辽南地区汉族人群中的分布情况以及与自身免疫性甲状腺疾病 (AITD)的关系。方法 :应用PCR -RFLP法测定 72例Graves病 (GD) ,5 8例桥本甲状腺炎(HT) ,5 0例健康对照者的TSHR -D3 6H变异率和基因型。结果 :GD组出现 1例TSHR -D3 6H变异(1.4% ) ,HT组有 2例变异 (3 .4% ) ,AITD(CD +HT)组共 3例 (2 .3 % ) ,对照组为 1例 (2 .0 % ) ;变异率在各病例组之间以及各病例组与对照组之间比较 ,差异不显著 (P >0 .0 5 )。 4例变异皆呈原始细胞杂合型 (GC型 )。结论 :TSHR -D3 6H是一多态性改变 ,它与AITD的发生不相关 ;但不排除与其他AITD易感基因 (位点 )及环境因素共同作用致病的可能

ASSOCIATION OF THYROTROPIN RECEPTOR GENE POLYMORPHISM (D36H)WITH AUTOIMMUNE THYROID DISEASE

Objective:To investigate the distribution of TSHR-D36H variant in the Hall nationality in Liaonan of China and the association of this variant with autoimmune thyroid disease (AITD).Methods:The genotype and frequency of TSHR - D36H variant were determined by PCR - RFLP in 72 patients with Graves' disease (GD),58 patients with Hashimoto thyroiditis (HT) and 50 healthy oontrolsubjects.Results:The TSHR-D36H variant was found in 1 of 72 patients with GD(1.4% ), 2 of 58 pafents with HT(3.4% ) ,that is 3 of 130 patients with AITD(GD+ HT, 2.3%), and 1 of 50 healthy control subjects (2.0%). All 4 positive genotypes are germline heterozygous for the E36H polymorphic variant. There was no significant difference in the distribution of this variant between all patient groups and control group (P>0.05).Conclusions:The TSHR- D36H, a polymorphic variant, is not associated with the occurrence of AITD. But it doesn' t deny the possibility that the TSHR - D36H variant interacts with other susceptible variants of AITD and environmental factors.