目的系统评价中国人群弥漫性毒性甲状腺肿(Graves′disease,GD)与细胞毒性T淋巴细胞相关抗原4(CTLA-4)基因外显子1+49位点A/G(A49G)和3′非翻译区A/G(CT60)多态性的相关性。方法通过中国学术期刊全文数据库(CNKI)、PubMed数据库、万方数据库、中国生物医学文献数据库(CBM),收集国内外关于中国人群细胞毒性T淋巴细胞相关抗原-4(CTLA-4)基因A49G和CT60位点多态性与GD病相关性的病例对照研究,通过严格筛选文献,评价文献质量,提取所需文献原始数据,用RevMan5.3软件和Stata12.0软件进行Meta分析和Egger′s线性回归检验,分别统计描述基因频率模型(G vs A)、共显性模型(GG vs AA)、显性模型(GG+AG vs AA)、隐性模型(GG vs AG+AA)的合并OR值及95%CI。结果入选文献25篇,中文16篇,英文9篇。CTLA-4基因A49G多态性的基因频率模型、共显性模型、显性模型、隐性模型合并OR值(95%CI)分别是1.94(1.67~2.25)、3.93(2.84~5.45)、2.69(2.07~3.50)、2.09(1.73~2.53);CTLA-4基因CT60位点多态性的基因频率模型、共显性模型、显性模型、隐性模型合并OR值(95%CI)分别是1.38(1.26~1.51)、1.61(1.28~2.03)、1.58(1.26~1.97)、1.40(1.26~1.56)。结论 GD病与CTLA-4基因A49G和CT60位点多态性有关,且为正相关,即两位点多态性是GD病发病的危险因素。 Objective To systematically evaluate the association between Graves ’disease (GD) and ALC (A49G) at the exon 1 + 49 of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) gene and 3’ Correlation of A / G (CT60) polymorphism in translation region. Methods The domestic and international data on cytotoxic T lymphocyte associated antigen-4 (CTLA-4) gene A49G and CTLA-4 in Chinese population were collected from CNKI, PubMed, Wanfang and CBM. CT60 locus polymorphism and the relationship between the disease of GD case-control study, through rigorous screening of literature, evaluation of the quality of the literature, the original data needed to extract the literature, with RevMan5.3 software and Stata12.0 software Meta analysis and Egger’s linear Regression test was used to describe the combined odds ratio (OR) of G vs A, GG vs AA, GG + AG vs AA, and recessive model (GG vs AG + AA) And 95% CI. Results Selected 25 articles, 16 Chinese, 9 English. The frequency of the gene polymorphism of CTLA-4 A49G polymorphism was 1.94 (1.67-2.25), 3.93 (2.84-5.45), 2.69 (2.07-3.50) and 2.09 (1.73-2.53). The frequency of CTLA-4 polymorphism in CTLA-4 gene was significantly higher in co-dominant, overt and recessive models (95% CI) 1.38 (1.26-1.51), 1.61 (1.28-2.03), 1.58 (1.26-1.97), 1.40 (1.26-1.56). Conclusions The relationship between GD disease and polymorphisms of CTLA-4 A49G and CT60 loci is positive, and the polymorphism of two loci is the risk factor of GD disease.