Laboratory for Molecular Cardiology, Centre for Cardiac, Vascular, Pulmonary and Infectious Diseases, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
Department of Biomedical Sciences, University of Copenhagen, Copenhagen, Denmark.
Eur J Hum Genet. 2021 Jul;29(7):1051-1060. doi: 10.1038/s41431-020-00784-8. Epub 2020 Dec 5.
Atrial fibrillation (AF) is the most common type of arrhythmia. Epidemiological studies have documented a substantial genetic component. More than 160 genes have been associated with AF during the last decades. Some of these were discovered by classical linkage studies while the majority relies on functional studies or genome-wide association studies. In this review, we will evaluate the genetic basis of AF and the role of both common and rare genetic variants in AF. Rare variants in multiple ion-channel genes as well as gap junction and transcription factor genes have been associated with AF. More recently, a growing body of evidence has implicated structural genes with AF. An increased burden of atrial fibrosis in AF patients compared with non-AF patients has also been reported. These findings challenge our traditional understanding of AF being an electrical disease. We will focus on several quantitative landmark papers, which are transforming our understanding of AF by implicating atrial cardiomyopathies in the pathogenesis. This new AF research field may enable better diagnostics and treatment in the future.
心房颤动（AF）是最常见的心律失常类型。流行病学研究已经证明了其存在大量遗传成分。在过去的几十年中，已经有超过 160 个基因与 AF 相关。其中一些是通过经典的连锁研究发现的，而大多数则依赖于功能研究或全基因组关联研究。在这篇综述中，我们将评估 AF 的遗传基础以及常见和罕见遗传变异在 AF 中的作用。多种离子通道基因以及缝隙连接和转录因子基因中的罕见变异与 AF 相关。最近，越来越多的证据表明结构性基因与 AF 有关。与非 AF 患者相比，AF 患者心房纤维化的负担增加的情况也已经被报道。这些发现挑战了我们对 AF 是一种电疾病的传统理解。我们将重点关注几项具有定量意义的标志性论文，这些论文通过暗示心房心肌病在发病机制中的作用，正在改变我们对 AF 的理解。这个新的 AF 研究领域可能会在未来实现更好的诊断和治疗。
