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.
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This work was supported by the research grant from the Science Foundation of Guangdong Second Provincial General Hospital (grant number: YY2018-002), and Medical Scientific Research Foundation of Guangdong Province of China (A2020453).
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XH, YL and GL contributed towards the design and structure of the manuscript. XH and YL reviewed the literature, designed the figures and drafted the manuscript, GL, JZ, XW, and ZL contributed to the discussion, editing and revision. All authors read and approved the final manuscript.
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Huang, X., Li, Y., Zhang, J. et al. The molecular genetic basis of atrial fibrillation. Hum Genet 139, 1485–1498 (2020). https://doi.org/10.1007/s00439-020-02203-w
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DOI: https://doi.org/10.1007/s00439-020-02203-w