CTLA－4基因rs3087243位点与中国汉族自身免疫性甲状腺疾病的相关性研究  

Association of single nucleotidepolymorphism rs3087243 in CTLA-4 gene with autoimmune thyroid disease in the Chinese Han population

作　　者：侯新[1] 毛金媛[2] 李玉姝[2] 李佳[2] 王薇薇[2] 范晨玲[2] 王红[2] 张红梅[2] 单忠艳[2] 滕卫平[2] 史晓光[2] 

机构地区：[1]中国医科大学附属第一医院老年内分泌科,沈阳110001 [2]中国医科大学附属第一医院内分泌科内分泌研究所、辽宁省内分泌疾病重点实验室,沈阳110001

出　　处：《临床内科杂志》2016年第10期669-671,共3页Journal of Clinical Internal Medicine

基　　金：国家自然科学基金资助项目（30670996）

摘　　要：目的探讨CTLA4基因rs3087243位点与中国汉族Graves病（GD）及桥本甲状腺炎（HT）的发病是否存在相关性。方法对辽宁省的80个GD家系（共478名成员）和12个HT家系（共75名成员）采用TaqMan分型方法进行rs3087243位点基因分型。应用Haploview软件进行哈迪温伯格平衡检验，应用FBAT软件对其进行基于家系的相关性研究。结果CTLA-4基因rs3087243这一单核苷酸的多态性（SNP）位点与中国汉族GD及HT发病无明显相关性。结论CTLA-4基因rs3087243位点不是中国汉族GD或HT的易感位点。Objective To investigate the association of single nucleotidepolymorphism rs3087243 in CTLA4 gene with Graves＇ disease （GD） and Hashimoto＇ s thyroiditis （HT） in the Chinese Hart population. Methods Eighty GD pedigrees（478 members） and 12 HT pedigrees （ 75 members） in Liaoning Province were collected. SNP rs3087243 was genotyped by the TaqMan allelic discrimination assay. Hardy-Weinberg Equilibrium tests were performed among founders of the pedigrees by Haploview software. Family-based association tests were performed by FBAT software. Results No deviation from Hardy-Weinberg equilibrium was observed（P 〉 0.05 ）. There were no significant associations between the CTLA-4 gene polymorphism（rs3087243） and GD or HT. Conclusion There is a lack of association between the CTLA4 gene polymorphism rs3087243 and susceptibility to GD and HT in a Chinese Han population.

关 键 词：自身免疫性甲状腺疾病 CTLA-4基因 单核苷酸多态性 

分 类 号：R581[医药卫生—内分泌]