In a recent study published in the journal JAMA Cardiology , a group of researchers identified rare predicted loss-of-function variants associated with atrial fibrillation (AF) and elucidated their role in the risk of AF, cardiomyopathy, and heart failure (HF) in combination with a polygenic risk score (PRS). Study: Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk . Image Credit: hywards / Shutterstock AF is the most common cardiac arrhythmia linked to increased risks of stroke, HF, and premature death.
While genome-wide association studies (GWAS) have identified common genetic variants linked to AF, accurately pinpointing the specific causal genes remains a significant challenge. Rare coding variants, however, often have large effect sizes on disease risk and prognosis, which may be clinically significant. Recent studies suggest genetic testing for certain AF subpopulations.
Further research is needed to better understand the genetic underpinnings of AF, particularly the impact of rare variants, to enhance risk stratification and develop targeted therapies. The present study was conducted in the United Kingdom (UK) Biobank and followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) guidelines. Participants provided informed consent, and ethical approval was obtained.
The UK Biobank includes genetic and clinical data on nearly 500,000 individuals. Rare coding variants were analyzed using gene-based burden tests, focusing.
