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目的运用Meta分析方法综合评价亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与神经管畸形的关系。方法检索PubMed、CNKI等多个中英文数据库的相关文献,收集所有关于MTHFR基因C677T多态性与神经管畸形关系的病例对照研究,提取所需数据应用SPSS 13.0和RevMan 5.0软件进行Meta分析。结果共有27篇符合条件的文献纳入分析,包括2 245例病例人群和3 678名对照人群;Meta分析表明,母亲携带CT基因型者子代发生神经管畸形(NTDs)的风险为母亲携带CC基因型者子代的1.41倍(OR=1.41,95%CI=1.16～1.71),其中国内母亲携带CT基因型者子代发生NTDs的风险为母亲携带CC基因型者子代的2.06倍(OR=2.06,95%CI=1.44～2.95);母亲携带TT基因型者子代发生NTDs的风险为母亲携带CC基因型者子代的1.97倍(OR=1.97,95%CI=1.49～2.61),其中国内和国外母亲携带TT基因型者子代发生NTDs的风险分别为母亲携带CC基因型者子代的3.12倍(OR=3.12,95%CI=1.50～6.51)和1.61倍(OR=1.61,95%CI=1.30～1.98)。结论 MTHFR C677T位点基因多态性与神经管畸形的易感性密切相关,但其病因关联性仍有待于在人群中进行大规模队列研究加以论证。
Objective To evaluate the relationship between methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and neural tube defects by Meta-analysis. Methods We searched relevant databases of PubMed and CNKI databases and collected all the case-control studies on the relationship between C677T polymorphism of MTHFR gene and neural tube defects. Meta-analysis was performed using SPSS 13.0 software and RevMan 5.0 software. Results A total of 27 eligible articles were included in the analysis, including 2,255 cases and 3,678 controls. Meta-analysis showed that the mothers with the CT genotype had the risk of developing neural tube defects (NTDs) (OR = 1.41, 95% CI = 1.16-1.71). The risk of developing NTDs in offspring of mother with CT genotype was 2.06 times that of the mother carrying CC genotype (OR = 2.06, 95% CI = 1.44-2.95). The risk of NTDs in mothers with TT genotype was 1.97 times that of mothers carrying CC genotype (OR = 1.97,95% CI = 1.49-2.61) The risk of NTDs in offspring carrying TT genotypes in domestic and foreign mothers was 3.12 times (OR = 3.12, 95% CI = 1.50 ~ 6.51) and 1.61 times (OR = 1.61, 95% % CI = 1.30 ~ 1.98). Conclusion The gene polymorphism of MTHFR C677T locus is closely related to the susceptibility to neural tube defects. However, the etiologic relevance of MTHFR C677T locus remains to be demonstrated in large population cohorts.