目的系统评价双亲及子代亚甲基四氢叶酸脱氢酶(MTHFD1)基因G1958A多态性与神经管缺陷(NTDs)发病风险的相关性。方法计算机检索The Cochrane Library、Pub Med、Web of Science、CNKI、VIP和Wan Fang Data数据库,搜集MTHFD1基因G1958A多态性与NTDs发病风险的相关性的病例-对照研究,检索时间均为建库至2016年6月。由2位研究者独立筛选文献、提取资料并评价纳入研究的偏倚风险后,采用Stata12.0软件进行Meta分析。结果共纳入13个病例-对照研究,包括1 724例NTDs患儿、1 485例NTDs患儿母亲和774例患儿父亲。Meta分析结果显示,患儿MTHFD1基因G1958A多态性与NTDs发病风险增加有相关性[AA vs.GG:OR=1.437,95%CI(1.100,1.878),P=0.008;AA+AG vs.GG:OR=1.187,95%CI(1.031,1.367),P=0.017;A vs.G:OR=1.210,95%CI(1.050,1.394),P=0.008]。而母亲和父亲MTHFD1基因G1958A多态性与子代NTDs易感性无相关性。结论患儿MTHFD1基因G1958A多态性是NTDs的发病风险因素之一。受纳入研究数量和质量限制,上述结论尚需展开更多的高质量研究予以验证。 Objective To evaluate the association between G1958A polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD1) gene and the risk of neural tube defects (NTDs) in the parents and offsprings. Methods A case-control study was conducted to investigate the association between the G1958A polymorphism of MTHFD1 gene and the risk of NTDs by searching the databases of The Cochrane Library, Pub Med, Web of Science, CNKI, VIP and Wan Fang Data. June 2016. Two researchers independently screened the literature, extracted data, and assessed the risk of bias included in the study, using the Stata 12.0 software for meta-analysis. Thirteen case-control studies were included, including 1 724 infants with NTDs, 1 485 mothers with NTDs and 774 infants with children. Meta-analysis showed that the G1958A polymorphism of MTHFD1 gene was associated with the increased risk of NTDs in children [AA vs.GG:OR=1.437,95%CI(1.100,1.878),P=0.008;AA+AG vs.GG : OR = 1.187, 95% CI (1.031, 1.367), P = 0.017; A vs. G: OR = 1.210, 95% CI (1.050, 1.394), P = 0.008]. The mothers and fathers MTHFD1 gene G1958A polymorphism and offspring NTDs susceptibility was not related. Conclusion The G1958A polymorphism of MTHFD1 gene in children is one of the risk factors of NTDs. Subject to the inclusion of the number of studies and the quality restrictions, more conclusions need to be drawn to more high-quality studies for validation.