Hong Kui, Xiong Qinmei
aCardiovascular Department bThe Key Laboratory of Molecular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang, China.
Curr Opin Cardiol. 2014 May;29(3):220-6. doi: 10.1097/HCO.0000000000000051.
Atrial fibrillation, the most common cardiac supraventricular arrhythmia, affects more than 5 million people worldwide. Increasing evidence has demonstrated that genetic factors play an important role in the pathogenesis of atrial fibrillation, and multiple genes responsible for atrial fibrillation have been identified. This review will focus on the recent findings in atrial fibrillation genetic studies and discuss the clinical implications of exploring the atrial fibrillation genetic basis.
The advent of the candidate gene approach and genome-wide association studies has facilitated the process of investigating the complex genetic background underlying the pathogenesis of atrial fibrillation. Recent genetic investigations have offered further insights into the predisposing genes encoding ion channels, connexin, atrial natriuretic peptide, RyR2, T-box transcription factor, nucleoporins and zinc-finger transcription factor. Common single-nucleotide polymorphisms are important factors in the development of lone atrial fibrillation, recurrent atrial fibrillation or atrial fibrillation complicated with cardiac disorders.
Analyses of candidate genes have revealed a growing number of atrial fibrillation-related genes. A better understanding of the genetic mechanism underlying atrial fibrillation would be expected to lead to more accurate risk stratification of atrial fibrillation and the discovery of optimal clinical treatment strategies that carry maximal efficacy and minimal risk in a manner that is consistent with the vision of pharmacogenomics.
心房颤动是最常见的心脏室上性心律失常，全球有超过500万人受其影响。越来越多的证据表明，遗传因素在心房颤动的发病机制中起重要作用，并且已经鉴定出多个与心房颤动相关的基因。本综述将聚焦于心房颤动基因研究的最新发现，并讨论探索心房颤动遗传基础的临床意义。
候选基因方法和全基因组关联研究的出现促进了对心房颤动发病机制复杂遗传背景的研究进程。最近的基因研究对编码离子通道、连接蛋白、心房利钠肽、兰尼碱受体2、T盒转录因子、核孔蛋白和锌指转录因子的易感基因有了进一步认识。常见的单核苷酸多态性是孤立性心房颤动、复发性心房颤动或合并心脏疾病的心房颤动发生发展的重要因素。
对候选基因的分析揭示了越来越多与心房颤动相关的基因。更好地理解心房颤动的遗传机制有望实现心房颤动更准确的风险分层，并发现符合药物基因组学理念的、疗效最佳且风险最小的优化临床治疗策略。
