Atrial fibrillation-a complex polygenetic disease

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 f...

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Bibliographic Details
Published in:European journal of human genetics : EJHG 2021-07, Vol.29 (7), p.1051-1060
Main Authors: Andersen, Julie H, Andreasen, Laura, Olesen, Morten S
Format: Article
Language:English
Subjects:
Alleles
Arrhythmia
Atrial Fibrillation - diagnosis
Atrial Fibrillation - epidemiology
Atrial Fibrillation - etiology
Atrial Fibrillation - therapy
Cardiac arrhythmia
Epidemiology
Fibrillation
Fibrosis
Genetic Association Studies - methods
Genetic diversity
Genetic Predisposition to Disease
Genetic Variation
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genotype
Humans
Multifactorial Inheritance
Patients
Phenotype
Polymorphism, Single Nucleotide
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Summary: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.
ISSN:1018-4813
1476-5438
DOI:10.1038/s41431-020-00784-8