MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies.
MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies.
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MTHFR C677T 多态性和先天性心脏病风险：来自 29 项病例对照和 TDT 研究的证据
DOI：
10.1371/journal.pone.0058041
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Fu S
中科院分区：
文献类型：
--
作者：
Wang W;Wang Y;Gong F;Zhu W;Fu S
背景亚甲基四氢叶酸还原酶(MTHFR)是人体叶酸代谢的重要酶，由MTHFR基因编码。几项研究已经评估了MTHFR C677T基因多态与先天性心脏病(CHDS)风险的关系，但结果不一致。方法和结果检索多个电子数据库，以确定截至2012年7月22日发表的相关研究。使用CatMap和Metafor软件将病例对照和TDT研究的数据整合到等位基因模型中。这项荟萃分析纳入了29种出版物。总体Meta分析显示，MTHFRC677T基因多态与具有异质性(P异质性 = 0.000)和发表偏倚(P Egger = 0.039)的儿童的冠心病风险显著相关，但在采用修剪-填充法后变为零(OR = 1.12，95%CI = 0.95-1.31)。然而，在按种族和样本量分层后，除混合人口外，所有亚组都获得了积极的结果。对于母亲，变异与无异质性的CHD显著相关(P异质性 = 0.150，OR = 1.16，95%CI = 1.05~1.29)和发表偏见(P Egger = 0.981)。然而，在种族和样本量的分层分析中，每个小组的结果都不同。结论婴儿和母亲MTHFR C677T基因多态均可能与CHD的发病风险有关。
Background Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme for folate metabolism in humans; it is encoded by the MTHFR gene. Several studies have assessed the association between MTHFR C677T polymorphism and the risk of congenital heart defects (CHDs), while the results were inconsistent. Methods and Findings Multiple electronic databases were searched to identify relevant studies published up to July 22, 2012. Data from case-control and TDT studies were integrated in an allelic model using the Catmap and Metafor software. Twenty-nine publications were included in this meta-analysis. The overall meta-analysis showed significant association between MTHFR C677T polymorphism and CHDs risk in children with heterogeneity (P heterogeneity = 0.000) and publication bias (P egger = 0.039), but it turned into null after the trim-and-fill method was implemented (OR = 1.12, 95% CI = 0.95–1.31). Nevertheless, positive results were obtained after stratified by ethnicity and sample size in all subgroups except the mixed population. For mothers, there was significant association between the variant and CHDs without heterogeneity (P heterogeneity = 0.150, OR = 1.16, 95% CI = 1.05–1.29) and publication bias (P egger = 0.981). However, the results varied across each subgroup in the stratified analysis of ethnicity and sample size. Conclusions Both infant and maternal MTHFR C677T polymorphisms may contribute to the risk of CHDs.
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影响因子：
8.4
作者：
Marti-Carvajal, Arturo J.;Sola, Ivan;Lathyris, Dimitrios;Salanti, Georgia
通讯作者：
Salanti, Georgia
DOI：
10.1111/j.0001-6349.2005.00611.x
发表时间：
2005-12-01
影响因子：
4.3
作者：
Lee, CN;Su, YN;Hsieh, FJ
通讯作者：
Hsieh, FJ
影响因子：
2
作者：
Shaw, GM;Iovannisci, DM;Lammer, EJ
通讯作者：
Lammer, EJ
影响因子：
4
作者：
Hobbs, CA;James, SJ;Cleves, MA
通讯作者：
Cleves, MA
DOI：
10.1002/bdra.20049
发表时间：
2004-10-01
影响因子：
--
作者：
McBride, KL;Fernbach, S;Belmont, JW
通讯作者：
Belmont, JW