201208-中国分子心脏病学杂志-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-中国医学科学院.pdfVIP

Review 249 3 Genetic Polymorphism of Folic Acid Metabolism Enzymes and Congenital Heart Disease He Feng, Gu Haiyong,Gong Dingxu, Zhang Hao. State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, Peoples Republic of China Abstract 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 infl uenced by the pathway enzymes which regulate folic acid uptake, the folic acid cycles and the closely-related homocysteine (Hcy) 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. Key wordsFolic acid; Congenital heart disease; Polymorphism 2 1 0 2 t s