Meta Analysis of the Association between MTHFR C677T Polymorphism and the Risk of Congenital Heart Defects
Meta Analysis of the Association between MTHFR C677T Polymorphism and the Risk of Congenital Heart Defects
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DOI：
10.1111/j.1469-1809.2011.00687.x
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发表时间：
2012-01-01
影响因子：
1.9
通讯作者：
Xu, Zhiwei
中科院分区：
文献类型：
--
作者：
Yin, Meng;Dong, Lingyan;Xu, Zhiwei
亚甲基四氢叶酸还原酶（MTHFR）多态性C667T与先天性畸形有关；这种常见的MTHFR基因错义突变可能会降低酶的作用，并可能与先天性心脏缺陷（CHD）的病因有关。本研究的目的是通过荟萃分析探讨MTHFR C677T多态性与冠心病患儿及其父母冠心病风险的关系。通过检索2011年之前的电子文献来确定研究，重点关注MTHFR C667T和冠心病风险。所有数据采用Cochrane Review Manager 5.1.1中的固定效应模型进行分析。纳入了20项符合条件的病例对照和基于家庭的研究。在病例对照研究中，胎儿、父亲和母亲的MTHFR TT基因型的合并优势比（OR）分别为1.55 （95%CI 1.251.93）、1.84 （95%CI 1.232.74）和1.20 (95%CI 0.941.54)，但在基于家庭的研究中，合并优势比为0.9 （95%CI 0.971.12）。我们的研究结果表明，胎儿和父亲的MTHFR C667T基因可能与冠心病的发生率增加有关。需要进一步开展更大规模的研究，以调查母体遗传多态性、叶酸摄入量和高同型半胱氨酸血症与冠心病发展之间的相互作用。
Methylenetetrahydrofolate reductase (MTHFR) polymorphism C667T has been associated with congenital malformation; this common missense mutation in the MTHFR gene may reduce enzymatic action, and may be involved in the etiology of congenital heart defects (CHD). The aim of this study was to investigate the relationship of the MTHFR C677T polymorphism with the risk of CHD in children with CHD and their parents by meta-analysis. Studies were identified by searching electronic literature for papers before 2011, focusing on MTHFR C667T and the risk of CHD. All data were analyzed using the fixed effects model in Cochrane Review Manager 5.1.1. Twenty eligible case-control and family-based studies were included. Overall analysis yielded pooled odds ratios (OR) of 1.55 (95%CI 1.251.93), 1.84 (95%CI 1.232.74) and 1.20 (95%CI 0.941.54) for fetal, paternal and maternal MTHFR TT genotypes in case-control studies, respectively, but yielded a summarized OR of 0.9 (95%CI 0.971.12) in family-based studies. Our results suggested that the fetal and paternal MTHFR C667T gene may be associated with an increased occurrence of CHD. Further larger studies should be performed to investigate the interaction between maternal genetic polymorphism, folic acid intake and hyperhomocysteinemia, and the development of CHD.