汉族人群促甲状腺素受体基因内含子1区域多态性与Graves病及临床表现的关系

目的:探讨汉族人群促甲状腺素受体（TSHR）基因内含子1区域上单核苷酸多态性（SNPs）位点与Graves病（GD）及临床表现的关系。方法:选取699例汉族GD患者和563名健康对照者入组。用TaqMan探针技术，检测GD患者和健康对照者14号染色体TSHR基因内含子1区上6个SNPs位点的基因分型，进行相关性分析，研究这6个SNPs与GD易感性关系。结果:GD患者和对照组rs179247、rs2284722、rs12101261、rs4903964四个位点在病例-对照中的分布上均具有显著差异（P<0.01）；rs12101261为与GD相关性最强的主效易感位点，与血清TRAb水平、性别有关，与甲状腺肿大程度、眼征无明显关联。结论:TSHR基因内含子1区域多态性与GD显著相关，其中rs12101261为相关性最强的主效易感位点，与促甲状腺素受体抗体阳性的GD患者发病密切相关。

The relationship between thyroid stimulating hormone receptor gene intron 1 area polymorphism and Graves disease and its clinical manifestations in Han Chinese

Objective:To explore the relationship between the loci of thyroid stimulating hormone receptor(TSHR) gene intron 1 single nucleotide polymorphisms ( SNPs ) and Graves disease ( GD ) and its clinical manifestations in Han Chinese. Methods:Six hundred and ninety-nine Han Chinese GD patients and 563 health people were selected. The six SNPs site genotypes of TSHR gene intron 1 area on chromosome 14 in all cases were detected using Taqman probe techique,the correlation of which with GD susceptibility was analyzed. Results:The differences of the frequency distributions of rs179247,rs2284722,rs12101261 and rs4903964 sites between GD patients and healthy people were satistically significant(P< 0. 05). The rs12101261 was the strongest susceptibility loci in the correlation with GD. The rs12101261 was correlation with the serum level of TRAb and gender,and not significant correlation wih the degree of goiter and eye. Conclusions:The TSHR gene intron 1 SNPs is significantly associated with GD. The rs12101261 is the strongest susceptibility loci,which is closely related to the onset of GD in positive thyrotropin receptor antibody patients.