中国汉族人群MTHFR多态性与唐氏综合征风险Meta分析

Association between MTHFRgene polymorphism and the risk of Down syndrome in Chinese Han population:A Meta-analysis

目的评估中国汉族人群女性亚甲基四氢叶酸还原酶(MTHFR)C677T位点多态性与其子代罹患唐氏综合征(DS)风险的相关性。方法全面检索Pubmed、Google Scholar、Elsevier、Springer、中国知网(CNKI)、万方、维普数据库,收集关于中国汉族人群MTHFR基因C677T多态性与子代唐氏综合征的研究,以合并比值比(OR)与95%可信区间(95%CI)为指标评估风险。结果共纳入10篇病例对照研究文献,共计657例生育过唐氏患儿的病例组母亲和895例未生育异常患儿的对照组母亲。Meta分析发现,在中国汉族人群中,母亲MTHFR C677T多态性与子代罹患唐氏综合征存在风险相关性。基因型TT+CT型vs.CC型,合并OR及95%CI为2.19(1.73~2.75),等位基因T vs.C,合并OR及95%CI为1.82(1.40~2.37)。未见明显发表偏倚。结论中国汉族人群中,MTHFR基因C677T多态性与子代唐氏综合征存在相关性,MTHFR 677 C>T突变,即TT/CT型增加子代唐氏综合征发病风险。

Objective To investigate the association between methylenetetrahydrofolate reductase(MTHFR) C677 T polymorphism and the risk of Down syndrome(DS) in Chinese Han population.Methods PubMed,Google Scholar,Elsevier,Springer Link,China National Knowledge Infrastructure(CNKI),Wanfang,Weipu databases were searched to collect related studies on C677 T polymorphism of MTHFR gene and the risk of DS in offspring of Chinese Han population.The pooled odds ratio(OR) with 95%confidence interval(95%CI) were calculated for risk assessment.Results A total of 10 case-control studies were included in the present meta-analysis,including 657 mothers who had given birth to children with DS and 895 mothers who had not given birth to abnormal children.The pooled OR value was estimated and significant association was found between maternal MTHFR C677 T polymorphism and DS.For TT+CT genotype vs.CC genotype,the pooled OR value and 95%CI was 2.19(1.73-2.75),for T allele vs.C allele,the pooled OR value and 95%CI was 1.82(1.40-2.37).No significant publication bias was observed.Conclusion Chinese Han population,maternal MTHFR C677 T polymorphism is associated with the risk of DS in offspring,and the mutation of MTHFR 677 C>T(TT/CT genotype) increases the risk of DS.