MTHFR基因(C677T)多态性与NTDs关系Meta分析
Relationship between MTHFR gene polymorphism(C667T)and neural tube defects：a meta-analysis
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摘要: 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。Abstract: ObjectiveTo explore the association between methyl tetrahydrofolate reductase(MTHFR)gene C677T polymorphism and incidence of neural tube defects through meta-analysis.MethodsWe searched PubMed,CNKI,and other literature database.All the case-control studies about MTHFR gene C677T polymorphism and susceptibility of neural tube defects were collected.Data were extracted from studies and analyzed by meta-analysis and meta-regression analysis.ResultsA total of 27 papers were selected based on the criteria,including 2 245 patients and 3 678 controls.Meta-analysis results showed that the combined odds ratio(OR)values of neural tube defects for offspring with maternal TT and CT genotypes were 3.12 and 2.06 in domestic population and were 1.61 and 1.10 in foreign populations.respectively.ConclusionThe results suggested that MTHFR C677T gene polymorphism is significantly associated with susceptibility of neural tube defects.But the mechanism of the association remains to be ascertained by large-scale cohort studies.
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