【摘要】 目的系统评价中国人细胞毒性T淋巴细胞相关抗原4(cytotoxic T lymphocytes associated antigen-4,CTLA-4)基因第一外显子49位点A/G、启动子-318位点C/T多态性与Graves病(Graves’ disease,GD)的相关性。方法计算机检索CNKI、VIP、CBM、PubMed、EMbase以及The Cochrane Library数据库,收集国内外关于中国人群CTLA-4基因第一外显子49位点A/G、启动子-318位点C/T多态性与GD相关性的病例-对照研究。检索时限均从1980年1月至2011年12月。按纳入和排除标准筛选文献、提取资料和评价质量后,采用RevMan 5.0和STATA 12.0软件进行Meta分析。结果①中国人群CTLA-4第一外显子49位点A/G多态性的系统评价共纳入10个研究。Meta分析结果显示:具有基因型G/G的中国人群发生GD的风险高于具有基因型A/A[OR=3.38,95%CI(2.07,5.51)]和基因型A/G[OR=1.72,95%CI(1.31,2.25)]的中国人群。同时,等位基因G引起GD的发病风险高于等位基因A[OR=1.87,95%CI(1.44,2.41)]。②中国人群CTLA-4启动子-318位点C/T多态性的系统评价共纳入5个研究。Meta分析结果显示:在GD发病风险方面,具有基因型T/T的中国人群与具有基因型C/C[OR=0.75,95%CI(0.26,2.12)]和基因型C/T[OR=0.92,95%CI(0.31,2.73)]的中国人群相当。同时,等位基因T引起GD的发病风险与等位基因C相当[OR=0.83,95%CI(0.61,1.12)]。结论现有研究的Meta分析结果显示,中国人群CTLA-4基因第一外显子49位点等位基因G与GD发病有关,但尚未发现启动子-318位点等位基因及基因型与GD发病相关。由于受纳入研究的质量和数量所限,上述结论尚需更多高质量的研究加以验证。更多还原

【Abstract】 Objective To systematically evaluate correlation between exon-1(locus 49,A/G) and promoter(locus-318,C/T) polymorphisms of Chinese population cytotoxic T lymphocytes associated antigen-4(CTLA-4) gene and Graves’ Disease(GD).Methods Relevant studies were electronically searched in CNKI,VIP,CBM,PubMed,EMbase and The Cochrane Library from 1980.1 to 2011.12.According to the inclusion and exclusion criteria,we selected and screened all case-control studies on the correlation between CTLA-4 exon-1(locus 49,A/G) and promoter(locus-318,C/T) polymorphisms of Chinese population and GD.Then we extracted the data and assessed the methodological quality of the included studies.Meta-analysis was performed using RevMan 5.0 and STATA 12.0 software.Results(1) Ten studies on exon-1 were included.Results of meta-analyses showed that Chinese population with genotype G/G had a higher GD risk than those with genotype A/A(OR=3.38,95%CI 2.07 to 5.51) and A/G(OR=1.72,95%CI 1.31 to 2.25).Also,the allele G showed significant association with increased GD risk compared to the allele A(OR=1.87,95%CI 1.44 to 2.41).(2) Five studies on promoter-318 were included.Results of meta-analyses showed that Chinese population with genotype T/T presented no increased relative risk compared to those with genotype C/C(OR=0.75,95%CI 0.26 to 2.12) or C/T(OR=0.92,95%CI 0.31 to 2.73).Meanwhile,the allele T showed no increased relative risk compared to the allele C(OR=0.83,95%CI 0.61 to 1.12).Conclusion The allele G at the locus 49 of exon-1 of Chinese population is significantly associated with increased GD risks,yet the correlation between promoter-318 C/T polymorphism and GD hasn’t been demonstrated.Due to the limited quality and quantity of the included studies,more high-quality studies are needed to test the above conclusion.更多还原