Cardiomyopathy Gene Variants and Polygenic Risk Scores in Atrial Fibrillation: Evidence for an Atrial-First Phenotype - PubMed
4 days ago
- #genetics
- #cardiomyopathy
- #atrial fibrillation
- Cardiomyopathy gene variants increase the risk of atrial fibrillation (AF), even without heart failure or overt ventricular disease.
- Polygenic risk scores (PRS) combined with disease-causing variants help identify predisposition to atrial or ventricular disease.
- Study participants with disease-causing variants and high PRS for AF had a cumulative AF risk of ~32%, compared to ~10% in those without variants and low PRS.
- The research involved large cohorts (UK Biobank and All of Us) with meta-analysis confirming the association between cardiomyopathy variants and AF.
- Genetic variants initially linked to cardiomyopathy have a significant or greater impact on AF risk, suggesting an 'atrial-first' phenotype.