先天性心脏病遗传和环境危险因素的研究进展

Progress in the Research of Genetic and Environmental Risk Factors for Congenital Heart Disease

先天性心脏病简称先心病,是新生儿中最常见的先天性畸形,每100名活产婴儿中就有1例先心病患儿。近年来,随着二代测序技术的发展,先心病易感变异和致病变异的鉴定得到了飞速进步,基因编辑技术的成熟也促进了对遗传病因的表型研究及机制解析。环境因素作为先心病另外一类重要的危险因素一直备受关注,但是受限于孕期暴露检测的样本收集和测试分析,其在先心病发生中的作用和机制研究进展缓慢。近10年来,国内外出生队列建设日益完善,基于队列样本的单细胞组学、元素组学、代谢组学等技术的应用,在遗传和环境危险因素的系统研究中发挥着重要的功能。该文就已发表的文献从遗传因素和环境因素两个方面总结了既往在先心病病因领域的研究进展,并为该领域未来的研究方向拓展了新思路。

CHD(congenital heart disease)is the most prevalent congenital anomaly among newborns,affecting nearly 1 in every 100 live births.Recent advancements in next-generation sequencing technology have facilitated rapid progress in identifying susceptibility variants and pathogenic variants associated with CHD.Furthermore,the advancement of gene editing technology has accelerated phenotypic research and mechanism analysis of genetic causes.Environmental factors,which are another risk factor for CHD,have garnered considerable attention.However,limitations in sample collection for exposure detection during pregnancy have impeded research on their role and mechanism in the development of CHD,resulting in slow progress.Over the past decade,the application of single-cell omics,elementomics,and metabolomics based on cohort samples has played a pivotal role in investigating genetic and environmental risk factors.This article reviews existing literature from both genetic and environmental perspectives to provide references for preventing and controlling CHD while suggesting future research directions.