The molecular genetic basis of atrial fibrillation
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REVIEW
The molecular genetic basis of atrial fibrillation Xin Huang1 · Yuhui Li2 · Junguo Zhang1 · Xiaojie Wang1 · Ziyi Li1 · Guowei Li1,3 Received: 23 April 2020 / Accepted: 26 June 2020 © Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract As the most common cardiac arrhythmia, atrial fibrillation (AF) is a major risk factor for stroke, heart failure, and premature death with considerable associated costs. However, no available treatment options have optimal benefit-harm profiles currently, reflecting an incomplete understanding of the biological mechanisms underlying this complex arrhythmia. Recently, molecular epidemiological studies, especially genome-wide association studies, have emphasized the substantial genetic component of AF etiology. A comprehensive mapping of the genetic underpinnings for AF can expand our knowledge of AF mechanism and further facilitate the process of locating novel therapeutics for AF. Here we provide a state-of-the-art review of the molecular genetics of AF incorporating evidence from linkage analysis and candidate gene, as well as genome-wide association studies of common variations and rare copy number variations; potential epigenetic modifications (e.g., DNA methylation, histone modification, and non-coding RNAs) are also involved. We also outline the challenges in mechanism investigation and potential future directions in this article.
Introduction Atrial fibrillation (AF) is the most common cardiac arrhythmia characterized by rapid and disorganized electrical activation of the atria, and is a major risk factor for stroke, heart failure, and premature death (Ball et al. 2013; Kannel and Benjamin 2009). The prevalence of AF is very low before the age of 40 years and increases exponentially beyond the age of 65 years, and up to over 10% in those aged ≥ 80 years (Ball et al. 2013). In 2010, the estimated number of individuals with AF globally was 33.5 million, with 4.7 million Xin Huang and Yuhui Li have contributed equally to this work. Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00439-020-02203-w) contains supplementary material, which is available to authorized users. * Guowei Li [email protected] 1
Center for Clinical Epidemiology and Methodology (CCEM), Guangdong Second Provincial General Hospital, 466 Newport Middle Road, Haizhu District, Guangzhou 510317, Guangdong, China
2
Department of Cardiology, Guangdong Second Provincial General Hospital, Guangzhou, China
3
Department of Health Research Methods, Evidence, and Impact (HEI), McMaster University Hamilton, 1280 Main St West, Hamilton, ON L8S 4L8, Canada
new AF cases per year; by the end of 2020, AF may affect over 80 million individuals worldwide (Chugh et al. 2014; Colilla et al. 2013). However, existing treatment regimens are limited in their effectiveness and are rarely curative, which makes AF a major public healthcare burden with considerable associated costs (Kim et al. 2011). Better understanding of the mechanisms and risk fact
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