Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies.
Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies.
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DOI：
10.1371/journal.pone.0041689
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发表时间：
2012
期刊：
影响因子：
3.7
通讯作者：
Zhao P
中科院分区：
文献类型：
--
作者：
Yan L;Zhao L;Long Y;Zou P;Ji G;Gu A;Zhao P
亚甲基四氢叶酸还原酶（MTHFR）是叶酸代谢的关键酶，参与DNA甲基化、DNA合成和DNA修复。此外，它是神经管缺陷（NTDs）的一个可能的危险因素。MTHFR基因中C677T多态性与NTD易感性的关联已被广泛证实，但结果仍不确定。在这项研究中，我们对2429例病例和3570例对照进行了荟萃分析，以研究MTHFR C677T多态性对NTDs的影响。电子检索PubMed和Embase数据库中有关MTHFR C677T多态性与NTD风险的论文。所有数据均使用STATA （version 11）进行分析。估计比值比（or）和95%置信区间（ci）来评估相关性。我们的荟萃分析进行了敏感性分析、异质性检验、累积荟萃分析和偏倚评估。我们的荟萃分析显示MTHFR C677T多态性与NTD易感性之间存在显著关联（TT与CC: OR = 2.022, 95% CI: 1.508, 2.712； CT+TT与CC: OR = 1.303, 95% CI: 1.089, 1.558； TT与CC+CT: OR = 1.716, 95% CI: 1.448, 2.033； 2TT+CT与2CC+CT: OR = 1.330, 95% CI: 1.160, 1.525）。此外，根据种族和对照来源对MTHFR C677T变异数据进行分层后，发现NTD风险增加。提示母体MTHFR C677T多态性是NTDs的遗传危险因素。进一步的功能研究，以调查叶酸相关的基因多态性，围孕期多种维生素补充剂，复杂的相互作用，以及NTDs的发展是必要的。
Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA methylation, DNA synthesis, and DNA repair. In addition, it is a possible risk factor in neural tube defects (NTDs). The association of the C677T polymorphism in the MTHFR gene and NTD susceptibility has been widely demonstrated, but the results remain inconclusive. In this study, we performed a meta-analysis with 2429 cases and 3570 controls to investigate the effect of the MTHFR C677T polymorphism on NTDs. An electronic search of PubMed and Embase database for papers on the MTHFR C677T polymorphism and NTD risk was performed. All data were analysed with STATA (version 11). Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Sensitivity analysis, test of heterogeneity, cumulative meta-analysis, and assessment of bias were performed in our meta-analysis. A significant association between the MTHFR C677T polymorphism and NTD susceptibility was revealed in our meta-analysis ( TT versus CC: OR = 2.022, 95% CI: 1.508, 2.712; CT+TT versus CC: OR = 1.303, 95% CI: 1.089, 1.558; TT versus CC+CT: OR = 1.716, 95% CI: 1.448, 2.033; 2TT+CT versus 2CC+CT: OR = 1.330, 95% CI: 1.160, 1.525). Moreover, an increased NTD risk was found after stratification of the MTHFR C677T variant data by ethnicity and source of controls. The results suggested the maternal MTHFR C677T polymorphism is a genetic risk factor for NTDs. Further functional studies to investigate folate-related gene polymorphisms, periconceptional multivitamin supplements, complex interactions, and the development of NTDs are warranted.
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影响因子：
2.1
作者：
Dalal, Ashwin;Pradhan, Mandakini;Agarwal, Sarita
通讯作者：
Agarwal, Sarita
DOI：
10.1016/0197-2456(86)90046-2
发表时间：
1986-09-01
期刊：
CONTROLLED CLINICAL TRIALS
影响因子：
--
作者：
DERSIMONIAN, R;LAIRD, N
通讯作者：
LAIRD, N
DOI：
10.1002/bdra.20011
发表时间：
2004-07-01
影响因子：
--
作者：
Félix, TM;Leistner, S;Giugliani, R
通讯作者：
Giugliani, R
DOI：
10.5114/aoms.2011.20618
发表时间：
2011-02
期刊：
Archives of medical science : AMS
影响因子：
--
作者：
Hosseini M;Houshmand M;Ebrahimi A
通讯作者：
Ebrahimi A
影响因子：
2.8
作者：
Han, Dong;Shen, Chao;Fu, Songbin
通讯作者：
Fu, Songbin