CTLA-4基因与Graves病易感性的关联研究  

Association between CTLA-4 gene polymorphisms and the susceptibility to Graves＇ disease

作　　者：瞿茹怡 李圣贤[2] 郑洁 刘威[3] 刘炳丽[3] 宋志毅[3] 

机构地区：[1]上海第一人民医院分院内科,200081 [2]上海交通大学医学院附属仁济医院内分泌科 [3]上海交通大学医学院附属瑞金医院内分泌科

出　　处：《中华内分泌代谢杂志》2014年第1期35-37,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：目的探讨细胞毒性T淋巴细胞相关抗原4（cTLA4）基因单核苷酸多态位点rs231775（G／A）和rs3087243（G／A）多态性与Graves病（GD）易感性的关系。方法从门诊和病房收集GD患者，留取血标本，抽提DNA，经TagMan．MGB探针法鉴定基因分型。选择正常体检人群作为对照，进行病例对照研究，分析CTLA-4基因多态性与GD发病的风险。结果GD组rs231775等位基因G（OR=1．244，95％CI1．124～1．377，P〈0．01）和GG基因型频率高于对照组（55．3％对49．1％，OR=1．279，95％CI1．126—1．454，P〈0．01），GD组rs3087243等位基因G（OR=1．303，95％CI1．166～1．457，P〈0．01）和GG基因型频率也高于对照组（76．8％对71．8％，OR=1．302，95％CI1．143—1．484，P〈0．01）。结论CTLA-4基因rs231775和rs3087243多态位点GG基因型显著增加GD的发病风险。Objective To determine whether the single nucleotide polymorphisms （SNPs） rs231775 and rs3087243 of the eytotoxic T lymphocyte antigen 4 （ CTLA-4 ） gene are associated with susceptibility to Graves＇ disease （GD） in Chinese Han population. Methods Patients were enrolled from outpatient department and wards. Blood samples from each subject were collected to extract DNA, and the genotypes were determined by TagMan-MGB probe. Results The frequencies of allele G （ OR = 1. 244,95% CI 1. 124-1. 377, P 〈 0.01 ） and genotype GG （ 55.3 % vs 49.1% , OR = 1. 279, 95 % CI 1.126-1. 454, P〈0.01 ） of rs231775 in GD group were higher than those in control group. The frequencies of allele G （ OR = 1. 303,95% CI 1. 166-1. 457, P〈0.01 ） and genotype GG （ 76.8% vs 71.8% , OR= 1. 302, 95% CI 1. 143-1. 484, P〈0.01 ） of rs3087243 in GD group were also higher. Conclusion GG genotypes in rs231775 and rs3087243 of CTLA-4 gene are related to the high risk of GD.

关 键 词：格雷夫斯病 多态性 单核苷酸 细胞毒性T淋巴细胞相关抗原4 

分 类 号：R581.1[医药卫生—内分泌]