先天性心脏病致病遗传因素研究现状

Research Status of Congenital Heart Disease Related Pathogenic Genetic Factors

先天性心脏病(CHD)是最常见的出生缺陷之一,其病因可分为非遗传性和遗传性。目前CHD的主要致病因素是遗传因素,包括单基因突变、多基因突变、染色体变异、基因组拷贝数变异、表观遗传学修饰等,均可能导致心脏畸形。随着基因组学技术的发展,如染色体微矩阵、全基因组芯片技术、高通量靶向测序以及生物信息学技术已被广泛应用于CHD致病遗传因素的研究。但仍需不断拓宽研究方向和拓展研究方法,以揭示更多的CHD基因层面病因,早期诊断CHD并开发新的疗法,以改善患者预后。

Congenital heart disease(CHD)is one of the most common birth defects,and its etiologic factors can be divided into non-hereditary and hereditary factors.At present,it has been widely recognized that genetic factors are the main pathogenic factors of CHD,including single gene mutation,polygene mutation,chromosome variation,genome copy number variation,epigenetic modification,etc.,all of which may lead to the occurrence of heart malformation.The development of genomics technology has played an important role in the study of pathogenic genetic factors of CHD,such as chromosome micromatrix,whole genome microarray technology,high-throughput targeted sequencing and bioinformatics technology.However,there is still a need to broaden the research directions and expand the research methods to uncover more genetic causes of CHD to make better early diagnosis and develop new therapies,so as to improve the prognosis of the patients.