Atrial fibrillation - a complex polygenetic disease

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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.

Original languageEnglish
JournalEuropean Journal of Human Genetics
Volume29
Pages (from-to)1051-1060
Number of pages10
ISSN1018-4813
DOIs
Publication statusPublished - 2021

    Research areas

  • FAMILIAL AGGREGATION, SCN5A VARIANTS, RARE VARIANTS, GENOME-WIDE, MUTATIONS, RISK, PREVALENCE, MYOSIN, COMMON, HEAVY

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