Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects:: A meta-analysis
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects:: A meta-analysis
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DOI：
10.1002/ajmg.a.31684
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发表时间：
2007-05-01
影响因子：
2
通讯作者：
Steegers-Theunissen, Regine
中科院分区：
文献类型：
--
作者：
Verldeij-Hagoort, Anna;Bliek, Johannes;Steegers-Theunissen, Regine
已有多项研究报道了高同型半胱氨酸血症、5，10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与唇裂伴或不伴腭裂(CLP)以及先天性心脏病(CHDS)之间的关系。然而，研究结果并不一致。对2006年9月之前发表的研究进行了荟萃分析，调查了母亲和儿童之间的这些关联。在两个CLP和三个CHD研究中提供了同型半胱氨酸数据，在十个CLP和八个CHD研究中报告了MTHFR多态。使用Cochrane Review Manager中的随机效应模型分析数据。合并的合并优势比(OR)：CLP为2.3(95%CI 0.4~11.9)，CHDS为4.4(2.6~7.3)。MTHFR C677T多态和CLP显示母亲和儿童的合并OR值分别为1.2(0.9-1.5)和1.0(0.9-1.2)，而A1298C多态在母亲和儿童中的估计值分别为1.0(0.7-1.2)和0.9(0.6-1.2)。MTHFR C677T多态的CHD研究显示，母亲的合并OR为1.0(0.8-1.3)，儿童为1.1(0.9-1.5)。两项关于CHD母亲A1298C基因多态性的研究表明，合并OR为1.2(0.8-1.8)。只有一项CHI研究报告了这种多态在儿童中的OR为1.3(0.8-2.1)。总而言之，这项荟萃分析表明，母体高同型半胱氨酸血症是冠心病的危险因素。母子亚甲基四氢叶酸还原酶基因C677T和A1298C多态性与慢性阻塞性肺疾病和冠心病无独立关联。高同型半胱氨酸血症、B族维生素摄入量、相关基因多态性与慢性阻塞性肺疾病和冠心病发病风险之间的相互作用有待进一步研究。(C)2007年Wiley-Liss，Inc.
Several studies have reported an association between hyperhomocysteinemia, 5,10-methylenetetrahydrofolate reductase (MTHFR) polyrnorphisms and cleft lip with or without cleft palate (CLP), and congenital heart defects (CHDs). However, findings have been inconsistent. A meta-analysis was performed of published studies until September 2006 investigating these associations in both mothers and children. Homocysteine data were provided in two CLP and three CHD studies, and MTHFR polymorphisms were reported in ten CLP and eight CHD Studies. Data were analyzed using the random effects model in the Cochrane Review Manager. The pooled odds ratio (OR) of maternal hyperhomocysteinemia was 2.3 (95% CI 0.4-11.9) for CLP, and 4.4 (2.6-7.3) for CHDs. The MTHFR C677T polyrnorphism and CLP showed pooled ORs of 1.2 (0.9-1.5) in mothers and 1.0 (0.9-1.2) in children, whereas these estimates for the A1298C polymorphism were 1.0 (0.7-1.2) in mothers and 0.9 (0.6-1.2) in children. The MTHFR C677T polymorphism CHD studies demonstrated a pooled OR of 1.0 (0.8-1.3) for mothers and 1.1 (0.9-1.5) for children. Two studies investigating the maternal A1298C polymorphism in CHDs demonstrated a pooled OR of 1.2 (0.8-1.8). Only one CHI) Study reported an OR of 1.3 (0.8-2.1) for this polymorphism in children. in conclusion, this meta-analysis demonstrates that maternal hyperhomocysteinemia is a risk factor for CHDs. The MTHFR polymorphisms C677T and A1298C in both mothers and children are not independently associated with CLP or CHDs. Future studies should be performed to investigate the interactions between maternal hyperhomocysteinemia, B-vitamin intake, related polymorphisms and the risk of CLP and CHDs. (C) 2007 Wiley-Liss, Inc.