Cardiology Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Department of Neurology, J. Philip Kistler Stroke Research Center, Massachusetts General Hospital, Boston, Massachusetts, USA.
Heart. 2018 Feb;104(3):201-206. doi: 10.1136/heartjnl-2016-311027. Epub 2017 Sep 11.
Atrial fibrillation (AF) is a prevalent arrhythmia associated with substantial morbidity, mortality and costs. Available management strategies generally have limited efficacy and are associated with potential adverse effects. In part, the limited efficacy of approaches to managing AF reflect an incomplete understanding of the biological mechanisms underlying the arrhythmia, and only a partial understanding of how best to individualise management. Over the last several decades, a greater understanding of genome biology has led to recognition of a widespread genetic susceptibility to AF. Through genome-wide association studies, at least 30 genetic loci have been identified in association with AF, most of which implicate mechanisms not previously appreciated to be involved in the development of AF. We now recognise that AF is a polygenic condition, yet a great deal of work lies ahead to better understand the precise mechanisms by which genomic variation causes AF. Understanding the genetic basis of AF could provide a better understanding of AF mechanisms and cardiovascular biology, inform the management of patients through risk-guided approaches and facilitate the development of novel therapeutics.
心房颤动(AF)是一种常见的心律失常,与大量的发病率、死亡率和成本有关。现有的管理策略通常疗效有限,并伴有潜在的不良反应。部分原因是,管理 AF 的方法的疗效有限,反映了对心律失常潜在生物学机制的理解不完整,以及对如何最佳地个体化管理的理解不完整。在过去几十年中,对基因组生物学的更深入理解导致人们认识到广泛存在对 AF 的遗传易感性。通过全基因组关联研究,已经确定了至少 30 个与 AF 相关的遗传位点,其中大多数涉及以前未被认为与 AF 发生有关的机制。我们现在认识到 AF 是一种多基因疾病,但还有很多工作要做,才能更好地理解基因组变异引起 AF 的精确机制。了解 AF 的遗传基础可以更好地理解 AF 机制和心血管生物学,通过风险导向的方法为患者的管理提供信息,并促进新型治疗方法的开发。