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目的 系统评价亚甲基四氢叶酸还原酶(MTHFR) 677C＞T基因多态性对不良妊娠结局和血同型半胱氨酸水平的关联性.方法 检索PubMed、万方医学网、中国知网中母亲MTHFR基因677C＞T位点多态性与不良妊娠结局的病例对照研究.提取相关数据并应用RevMan5.0软件进行Meta分析.结果 共纳入19篇文献,病例组共2 973例,对照组共5 787例.采用共显性遗传模式(CC vs.TT和CT vs.TT)计算合并OR (95％CI):CC vs.TT为1.29 (1.09 ～ 1.54),CT vs.TT为1.20 (0.99 ～ 1.45),提示T等位基因与不良妊娠结局有相关性(P＜0.05).CT vs.TT亚组分析显示CT型是唐氏综合征和早产的危险因素:OR (95％CI)为2.16 (1.49 ～ 3.13),但因为分亚组后文献数量较少结论可靠性待确定.对于血同型半胱氨酸(Hcy)水平与不良妊娠结局的关系,共纳入7篇文献,病例组417例,对照组445例,与对照组相比,Hcy的水平无差别,OR (95％CI)为0.14(-0.14 ～ 0.42).结论 MTHFR TT型是发生不良妊娠结局的一个危险因素,CT型在不同的不良妊娠结局中结论不一致,而Hcy水平与不良妊娠结局无关.“,”AIM To evaluate the association between methylenetetrahydrofolate reductase (MTHFR) gene 677C ＞ T polymorphism with poor pregnancy outcomes and serum homocysteine level.METHODS PubMed,Wanfang,CNKI were used as the search databases.Control studies about maternal MTHFR gene 677C ＞ T polymorphism and poor pregnancy outcomes case were selected.Relevant data were extracted and RevMan5.0 software was used for Meta analysis.RESULTS Totally 19 articles with 2 973 cases in the study group and 5 787 cases in the control group were included in the analysis.The co-dominant genetic model (CC vs.TT,CT vs.TT) were applied for data combining.OR (95％CI) were 1.29 (1.09-1.54) for CC vs.TT,and 1.20 (0.99-1.45) for CT vs.TT,suggesting the T allele may be significantly related to poor pregnancy outcome (P ＜ 0.05).A subgroup analysis of the CT vs.TT showed that CT genotype was a risk factor for Down syndrome and preterm delivery (OR (95％CI) was 2.16 (1.49-3.13)),but the sample was relatively small thus requiring further investigation.As for the serum homocysteine (Hcy) levels and poor pregnancy outcomes,a total of 7 articles including 417 cases in the study group and 445 cases in the control group were selected.However,compared with the the control group,no significant difference was observed,OR (95％CI) 0.14 (-0.14-0.42).CONCLUSION MTHFR TT genotype is a risk factor for poor pregnancy outcome,the results might vary for CT genotype in different poor pregnancy outcomes,and no association was observed between the level of serum homocysteine and poor pregnancy outcome.