Multiancestry polygenic risk score improves hypertrophic cardiomyopathy risk stratification
Bal et al. developed a multiancestry polygenic risk score for hypertrophic cardiomyopathy that works across diverse populations, they reported in Nature Cardiovascular Research. Pathogenic variants in sarcomere-encoding genes explain only one-third of HCM cases. The authors combined summary statistics from BioBank Japan, the Million Veteran Program, and a meta-analysis of seven European-ancestry cohorts, then evaluated the score in a USA-based multiancestry population. Individuals in the top quintile had a 2.11-fold higher risk of HCM. Among carriers of sarcomeric pathogenic or likely pathogenic variants, the risk increased nearly 70-fold. A higher score was also associated with adverse cardiovascular outcomes in patients with HCM.
Cardiologists can now better stratify risk in diverse patients with sarcomeric mutations before adverse cardiovascular outcomes occur.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].