先天性心脏病表观遗传学研究进展

Progress in epigenetics of congenital heart disease

先天性心脏病(congenital heart disease,CHD)是一组复杂的心脏解剖学畸形,为常见的出生缺陷,在全球范围内的发病率约为9‰,并且仍呈现上升趋势。先天性心脏病病因目前尚未明确,多方研究表明,先天性心脏病的发生可能是单纯基因因素、环境因素或基因-环境相互作用导致的结果。其中,基因与环境因素相互作用很大程度是通过表观遗传调控方式,以DNA甲基化、组蛋白及RNA修饰等方式影响心肌的发育与分化,诱发先天性心脏病的发生。该文通过综述先天性心脏病表观遗传学研究,探讨目前先天性心脏病病因学研究的进展及未来研究方向。

Congenital heart disease(CHD)is one of the most common congenital defects that caused by fetal cardiovascular dysplasia.The global incidence rate is about 9/1000 and is still rising.Previous reports have shown that congenital heart disease(CHD)incidence can be influenced by genetic etiology and environmental risk factors.And the gene-environmental interaction can affect the development and differentiation of myocardium through epigenetic regulation by means of DNA methylation,histone and RNA modification,etc.In this paper,we review the epigenetics of congenital heart disease to discuss the current progress and point out future direction of the etiology of congenital heart disease.