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Published on: July 20, 2022
Genetics of atrial fibrillation: from families to genomes
Ingrid E Christophersen1,2,3, Patrick T Ellinor1,3
1Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Insights
Atrial fibrillation (AF) is a common heart rhythm disorder with increasing prevalence. Genetic research reveals complex heritability, identifying rare and common variants that may lead to new treatments.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Atrial fibrillation (AF) is the most prevalent cardiac arrhythmia, associated with significant morbidity and mortality.
- Current treatments for AF are limited, highlighting the need for improved therapeutic strategies.
- AF exhibits a heritable component, suggesting a genetic basis for its development.
Purpose of the Study:
- To review the current understanding of genetic variants associated with atrial fibrillation.
- To explore the clinical implications of identified genetic factors in AF.
- To outline future research directions for personalized AF treatment.
Main Methods:
- Review of published literature on genetic associations with atrial fibrillation.
- Analysis of studies identifying rare and common genetic variants.
- Synthesis of findings related to AF pathophysiology and clinical impact.
Main Results:
- Identification of numerous rare variants in genes encoding ion channels, transcription factors, and other proteins.
- Discovery of 14 genetic loci associated with AF through common variant analyses.
- Demonstration of the complex and heterogeneous genetic architecture of AF.
Conclusions:
- Genetic insights into AF are crucial for understanding its pathophysiology.
- Further research into AF genetics can inform novel treatment strategies and risk prediction.
- Advancing knowledge of AF genetics paves the way for individualized patient care.
Abstract:
Atrial fibrillation (AF) is the most common cardiac rhythm disorder and the prevalence is increasing. The disease confers an increased risk of severe complications such as heart failure, stroke and death, yet the treatment options available are insufficient. AF can develop secondary to other diseases, but there is also evidence of a heritable component. The molecular basis for the heritability of AF has been explored in depth over the past decade. Rare variants have been identified in ion channels, transcription factors and a wide range of other genes. More recently, common variant analyses have identified 14 genetic loci associated with AF. Thus, the genetics of AF is complex and heterogeneous. In this review, we describe the common and rare variants identified for AF, the potential clinical implications of these variants and the future directions in this field. Increasing our understanding of the pathophysiology of AF will aid the development of new and improved treatment strategies and risk prediction of AF, the first steps toward a more individualized treatment of the arrhythmia.
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