Li Z, Jun Y, Zhong-Bao R, Jie L, Jian-Ming L
Department of Cardiology, Institute of Medical Research, Taizhou People's Hospital, Yingchun Road 210, 225300, Taizhou, Jiangsu Province, China.
Herz. 2015 Apr;40 Suppl 2:160-7. doi: 10.1007/s00059-014-4144-8. Epub 2014 Sep 27.
Congenital heart disease (CHD) is the most common type of birth defect. It is suspected that polymorphisms in folate metabolism are associated with an increased risk of CHD, but the conclusion remains unclear. Studies have reported that the MTHFR C677T polymorphism was associated with the development of structural congenital heart malformations. The objective of this study was to conduct a meta-analysis of available studies to identify common polymorphisms in the MTHFR gene in children with CHD and their mothers and to test for an association between genotype and disease. In all, 19 eligible studies comprising 4,219 cases and 20,123 controls were included in this meta-analysis. A significant association was found between the MTHFR C677T polymorphism and CHD risk (OR: 1.26; 95 % CI = 1.06-1.51; p = 0.009) with no strong evidence of heterogeneity (I(2) = 39 %) in the fetal analysis. In the maternal analysis, the MTHFR C677T polymorphism was significantly associated with CHD risk (OR = 1.52; 95 % CI = 1.09-2.11; p = 0.01) with significant heterogeneity (I(2) = 63 %).
先天性心脏病（CHD）是最常见的出生缺陷类型。据推测，叶酸代谢多态性与CHD风险增加有关，但结论仍不明确。研究报告称，MTHFR C677T多态性与结构性先天性心脏畸形的发生有关。本研究的目的是对现有研究进行荟萃分析，以确定CHD患儿及其母亲MTHFR基因中的常见多态性，并检测基因型与疾病之间的关联。本荟萃分析共纳入19项符合条件的研究，包括4219例病例和20123例对照。在胎儿分析中，发现MTHFR C677T多态性与CHD风险之间存在显著关联（OR：1.26；95%CI = 1.06 - 1.51；p = 0.009），且没有明显的异质性证据（I(2) = 39%）。在母亲分析中，MTHFR C677T多态性与CHD风险显著相关（OR = 1.52；95%CI = 1.09 - 2.11；p = 0.01），存在显著异质性（I(2) = 63%）。
