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[目的]运用Meta分析的方法综合评价母亲MTHFR基因C677T多态与其子代先天性心脏病发生的关联。[方法]通过计算机检索中国生物医学文献数据库(CBM)、中国学术期刊全文数据库(CNKI)和Pubmed数据库,收集1995～2008年国内外公开发表的关于母亲MTHFR基因C677T多态性与其子代先天性心脏病易感关系的病例对照研究,以病例组母亲和对照组母亲基因型分布的OR值为效应指标,利用RevMan4.2软件对各研究结果进行异质性检验和效应值合并,并进行发表偏倚评估和敏感性分析。[结果]共入选国内外相关文献10篇,累积病例组母亲1172例,对照组母亲1105例,Meta分析结果表明,以CC基因型为参照,母亲携带TT、TC基因型,其子代发生先天性心脏病的OR值(95%CI)分别为1.46(1.10~1.94)和0.97(0.79~1.18),而母亲携带至少一个突变基因型时,子代发生先天性心脏病的OR值(95%CI)为1.07(0.88~1.29)。漏斗图显示,各点分布对称性较好,发表偏倚的影响较小。敏感性分析提示,结果较稳定。[结论]母亲MTHFR基因C677T多态性与其子代先天性心脏病的发生有关,母亲携带纯合突变基因型(TT)是其子代先天性心脏病发生的重要危险因素。
[Objective] To evaluate the relationship between MTHFR gene C677T polymorphism and its progeny congenital heart disease by Meta-analysis. [Methods] The CBM, CNKI and Pubmed databases of China were searched by computer, and the published data about the C677T polymorphism of MTHFR gene and its progeny of offspring published in China from 1995 to 2008 A case-control study of susceptibility to heart disease was conducted. The OR of mothers’ genotype distribution in the case group and the control group was taken as the effect index. The results of each study were heterogeneously tested and the effect values were merged by using RevMan 4.2 software Bias Assessment and Sensitivity Analysis. [Results] A total of 10 domestic and foreign literatures were selected, including 1172 mothers in the cumulative cases and 1105 mothers in the control group. The results of Meta analysis showed that the mothers carried TT and TC genotypes with CC genotype as their reference, The odds ratio (95% CI) of sexual heart disease was 1.46 (1.10-1.94) and 0.97 (0.79-1.18), respectively. The odds of congenital heart disease in offsprings were 95% (95% CI) for mothers with at least one mutation genotype CI) was 1.07 (0.88 to 1.29). Funnel chart shows that the distribution of each point symmetry is better, the impact of publication bias is smaller. Sensitivity analysis suggests that the results are more stable. [Conclusion] The maternal MTHFR gene C677T polymorphism is associated with its offspring congenital heart disease. The mother carrying the homozygous mutant genotype (TT) is an important risk factor for its offspring congenital heart disease.