MTHFR基因C677T多态性与神经管缺陷相关性的Meta分析

摘要： 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。

Association between maternal MTHFR C677T polymorphism and neural tube defects in offsprings:a Meta-analysis

Abstract： 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 be⁃ tween maternal MTHFR C677T polymorphism and NTDs. The data were quantitatively analyzed by RevMan 5.0 software. Re⁃ sults 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 analy⁃ sis showed significant association between maternal MTHFR C677T polymorphism and NTDs susceptibility in Asian popula⁃ tions. Conclusion The present meta-analysis suggests that MTHFR C677T polymorphism is significantly associated with maternal risk for NTDs, especially in Asian populations.