MTHFR基因C677T多态性与神经管缺陷相关性的Meta分析

摘要

Objective To explore the association between maternal methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism and neural tube defects (NTDs). Methods CBM, VIP, CNKI, Wanfang, PubMed and Web of Science databases from set up to March, 2014 were electronically searched to identify case-control studies on the relationship between maternal MTHFR C677T polymorphism and NTDs. The data were quantitatively analyzed by RevMan 5.0 software. Results A total of 25 studies were selected including 2 282 cases and 3 420 controls. Overall, the pooled OR (with 95%CI) under co-dominant model and allele contrast were 2.28(1.60-3.24), 1.25(1.02-1.53) and 1.42(1.21-1.67). Subgroup analysis showed significant association between maternal MTHFR C677T polymorphism and NTDs susceptibility in Asian populations. Conclusion The present meta-analysis suggests that MTHFR C677T polymorphism is significantly associated with maternal risk for NTDs, especially in Asian populations.%目的 探讨母亲5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与子代神经管缺陷(NTDs)发生的相关性.方法 计算机检索中国生物医学文献数据库、重庆维普中文科技期刊全文数据库、清华CNKI数据库、万方科技期刊数据库、PubMed和Web of Science,检索时间均为自建库至2014年3月.按照纳入与排除标准选择母亲MTHFR基因C677T位点多态性与子代NTDs发生相关的病例对照研究.提取相关数据并应用RevMan5.0软件进行Meta分析.结果 25篇文献纳入分析,包括病例组2 282例,对照组3 420例.结果显示,在共显性(TT基因型vs CC基因型;CT基因型vs CC基因型)及等位基因遗传模式下合并OR(95%CI)分别为2.28(1.60～3.24)、1.25 (1.02～1.53)和1.42(1.21～1.67).亚组分析结果显示,在亚洲人群中母亲MTHFR基因C677T位点多态性与子代NTDs发生间存在显著的相关性.结论 母亲MTHFR基因C677T位点多态性是子代发生NTDs的一个危险因素,尤以亚洲人群较为明显.