CTLA4基因多态性与Graves病的关系

The relationship between CTLA4 gene polymorphisms and Graves′disease

目的 探讨细胞毒T淋巴细胞相关抗原4（CTLA4）基因单核苷酸多态（SNP）rs10197319、rs1024161、rs231726、rs231804与弥漫性毒性甲状腺肿（Graves）病的关系。方法 以中国安徽蚌埠地区698例Graves病患者（Graves病组）和571名健康体检者（对照组）作为研究对象。应用TaqMan探针技术,分别检测两组的CTLA4基因SNP rs10197319、rs1024161、rs231726、rs231804基因型;同时检测Graves病患者促甲状腺激素受体抗体（TRAb）水平。结果 在4个SNP位点中,rs1024161_A与Graves病易感性显著相关（P=2.28×10-5,OR=1.43,95%CI：1.21~1.68）;Logistic回归分析提示rs1024161是Graves病的独立易感位点。在rs1024161_AA、rs1024161_AG、rs1024161_GG 3种基因型间比较,血清TRAb水平及其他临床表现的差异无统计学意义（P〉0.05）。结论 CTLA4基因上rs1024161与中国安徽蚌埠地区汉族人群Graves病明显相关,并且是一个独立易感位点。

Objective To investigate the associations between CTLA4 gene polymorphisms at positions rs10197319, rs1024161,rs231726,rs231804 and Gravesr disease（GD）. Methods The subjects in this research consists of 698 cases of GD patients and 571 healthy controls from Bengbu city. Genotyping of the four SNPs rs10197319, rs1024161, rs231726, rs231804 was performed using a TaqMan PCR＇ assay meanwhile, serum concentrations of thyroid stimulating hormone receptor antibody（TRAb）of the patients were also detected. Results Among the four SNPs,rslO24161A was significantly associated with GD in the Chinese Han population（P= 2.28 ×10-5 ,OR = 1.43,95% CI：1.21-1.68）. Logistic regression suggested that rs1024161 was an independent susceptibility locus of GD. Furthermore, serum TRAb concentration and the other clinical features didnlt reach statistical significance among rs1024161 AA,AG and GG genotypes（P〉0. 05）. Conclusion The rs1024161 in CTLA4 gene was significantly associated with GD in the Chinese Han population from Bengbu city,and it may function as an independent susceptibility locus of GD.