心脏QT间期延长关联基因研究进展

Advances in genome-wide association study of cardiac QT interval prolongation

心脏QT间期延长是临床恶性心律失常和心源性猝死的重要危险因素之一。全基因组关联研究(genome-wide association study,GWAS)发现,心脏复极调控相关基因遗传缺陷可能是导致获得性QT间期延长的主要致病机制,其致病基因涉及电生理遗传调控的各个方面。本文就目前研究的热点基因位点进行介绍,并就其与心脏复极的关系和对心肌电生理的影响进行深入讨论,旨在为QT延长所导致心律失常提供新的研究视角。

The cardiac QT interval prolongation is one of the important risk factors of clinical malignant arrhythmias and sudden cardiac death. The genome-wide association study（GWAS） recently indicates that inherited defects of known genes regulating cardiac repolarization may be the pathogenic mechanisms of acquired QT prolongation. These gene defects are complicated and closely associated with myocardial electrophysiology. This paper overviews recent progresses in QT-related gene research, aims to explore its relationship with cardiac electrophysiological function and provide a new perspective for studying on mechanisms of QT prolongation related arrhythmias.