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目的 探讨MTHFR基因C677T多态性与中国女性复发性流产之间的关联性,及地域分布特点.方法 通过对万方和中国知网数据库检索相关已发表文献,在按照既定的标准进一步筛选后,将25篇文献纳入本次研究,进行MTHFR C677T基因多态性与复发性流产间的病例对照研究,及该基因在复发性流产人群中的地域性特点分析.结果 对所纳入的25篇文献中共包括复发性流产患者1974人,正常对照1959人进行统计合并后结果显示,TT和CT基因型的女性其发生复发性流产的风险是CC基因型者的2.68倍和1.50倍,即0R值分别为2.68 [95％ CI (2.24,3.20)]、1.50 [95％ CI (1.29,1.72)];TT或CT基因型的女性其发生复发性流产的风险是CC型者的1.80倍[95％ CI (1.58,2.05)];T等位基因携带者发生复发性流产的风险是C等位基因携带者的1.70倍[95％ CI (1.55,1.86)].国内不同地区之间的基因型频率和基因频率均有显著差异(P＜0.05).表现为由南向北,女性的TT基因型频率逐渐上升,且华南地区女性TT基因型及T基因频率显著低于其他地区.结论 MTHFR基因是中国女性复发性流产的重要遗传风险因素,且北方女性的复发性流产风险显著高于南方女性.“,”Objective:To investigate whether polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene C677T is associated with the recurrent spontaneous abortion,and to analyze the regional distribution.Methods:Case-control studies on associations between MTHFR C677T polymorphisms and the recurrent spontaneous abortion were searched from Wanfang Database and CNKI.Inclusion criteria were used to decide the articles finally included in the study.Results:A total of 25 articles met the inclusion criteria involving 1974 patients and 1959 controls.Women with TT and CT genotype had 168％ and 50％ higher risk of developing recurrent spontaneous abortion than those with CC genotype,with OR value of 2.68[95％ CI (2.24,3.20)]、1.50[95％ CI (1.29,1.72)],respectively.Women with TT or CT genotype had 80％ higher risk of developing recurrent spontaneous abortion than those with CC genotype,with OR value of 1.80 [95％ CI (1.58,2.05)].T allele carriers had 70％ higher risk of developing recurrent spontaneous abortion than C allele carders,with OR value of 1.80 [95％ CI (1.55,1.86)].The genotype frequency and allele frequency between different regions had significant differences in China (P＜0.05).The TT genotype frequency of females increased gradually from south to north,and the TT genotype and T allele frequencies in southern China was significantly lower than other regions.Conclusion:The MTHFR gene was an important part in genetic risk factors for Chinese women with recurrent spontaneous abortion,and the risk for northern women was significantly higher than the southern women.