Researchers identified rare genetic variants that significantly increase the risk of atrial fibrillation, enhancing AF risk stratification by combining these with polygenic risk scores.
By Vijay Kumar MalesuReviewed by Susha Cheriyedath, M.Sc.Jun 28 2024 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 and elucidated their role in the risk of AF, cardiomyopathy, and heart failure in combination with a polygenic risk score .
About the study The present study was conducted in the United Kingdom Biobank and followed the Strengthening the Reporting of Observational Studies in Epidemiology 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 on rare predicted loss-of-function variants across 17,979 genes.
Study results The study conducted gene-based association tests across the exome of 403,990 individuals. Baseline characteristics indicated a median age of 58, with 54.1% female participants. A total of 31,124 individuals with AF were defined as cases, while 372,871 served as controls.
Genetic Allele Arrhythmia Cardiology Cardiomyopathy Gene Genes Genome Heart Heart Failure Protein Research RNA Stroke UK Biobank
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