Zhang Chunhong, Huo Junsheng, Sun Jing, Huang Jian, Piao Wei, Yin Jiyong
National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.
Wei Sheng Yan Jiu. 2018 Mar;47(2):312-317.
To explore the association between maternal MTHFR gene polymorphism( C677T) and neural tube defects in offspring through Meta-analysis in China.
CNKI, Pub Med, Web of Science, Chinese Wan Fang Data databases, CBM, VIP for published articles were searched from the time of Database establishment to July 5 th 2017. The search strategy was based on combinations of the English and/or Chinese keywords, 'MTHFR'and 'folate pathway'and 'polymorphism'or 'SNP'and'NTDs or Neural Tube Defects'. References of reviews and retrieved studies were also scanned. All the case-control studies about MTHFR gene C677T polymorphism and susceptibility of neural tube defect were collected, which were fulfilled the followinginclusion criteria: case-control study and cohort study design, presentation of data necessary for calculating odds ratios( ORs). Data were extracted from studies and analyzed by Rev Man 5. 3 software.
A total of 13 papers were selected, including1500 patients and 1654 controls. Meta-analysis result showed that the combined odds ratio values of neural tube defect for offspring with maternal TT, TT + CT and T allele genotypes were 1. 94, 1. 65 and 1. 39, respectively.
The present Meta-analysis suggests that MTHFR C677T is significantly associated with maternal risk for NTDs in the Chinese population, supplemental folic acid supplementation based on MTHFR polymorphisms will be an important means to further reduce the birth defects of newborns.
通过Meta分析探讨中国人群中母亲亚甲基四氢叶酸还原酶（MTHFR）基因多态性（C677T）与子代神经管缺陷之间的关联。
检索中国知网、PubMed、Web of Science、中国万方数据库、中国生物医学文献数据库、维普数据库中自建库至2017年7月5日发表的文章。检索策略基于英文和/或中文关键词“MTHFR”“叶酸代谢途径”“多态性”或“单核苷酸多态性”以及“神经管缺陷”的组合。同时筛查综述和检索到的研究的参考文献。收集所有关于MTHFR基因C677T多态性与神经管缺陷易感性的病例对照研究，这些研究需符合以下纳入标准：病例对照研究和队列研究设计，提供计算比值比（OR）所需的数据。从研究中提取数据并使用Rev Man 5.3软件进行分析。
共纳入13篇文献，包括1500例患者和1654例对照。Meta分析结果显示，母亲基因型为TT、TT + CT和T等位基因的子代神经管缺陷的合并比值比分别为1.94、1.65和1.39。
本Meta分析表明，在中国人群中，MTHFR C677T与母亲患神经管缺陷的风险显著相关，基于MTHFR基因多态性补充叶酸将是进一步降低新生儿出生缺陷的重要手段。
