叶酸代谢通路相关酶基因多态性与先天性心脏病的研究进展

Genetic Polymorphism of Folic Acid Metabolism Enzymes and Congenital Heart Disease

先天性心脏病是最常见的婴幼儿先天性畸形,但目前病因不明,预防措施较少。近来研究认为,女性在怀孕前后3个月补充叶酸可以有效降低胎儿先天性心脏病的发病率。叶酸的转运和摄取、叶酸代谢和同型半胱氨酸的代谢均有重要的关键酶影响叶酸的代谢。为了揭示怀孕前后补充叶酸降低先天性心脏病发病率的潜在机制,本文对叶酸代谢通路相关酶基因多态性与先天性心脏病的关系进行综述。

Congenital heart diseases （CHD） are the most common fetal congenital anomalies with an elusive etiology and poor prevention. Recent researches demonstrate that women who use folic acid 3 months before and after conception are at a reduced risk for CHD-affected pregnan- cies. The folic acid metabolism was influenced by the pathway enzymes which regulate folic acid uptake, the folie acid cycles and the closely-related homocysteine （Hey） metabolism. In order to unravel the mechanism underlying the protective effect of reducing the risk of CHD by using folic acid periconceptionally, this paper will focus on the relationship between the genetic polymorphism of folic acid metabolism enzymes and congenital heart disease.