Meta-analysis links 70 genetic loci to hypertrophic cardiomyopathy risk
A genome-wide association meta-analysis of 2,284 hypertrophic cardiomyopathy cases and 4,525 controls identified 70 unique genetic loci. Four had not been reported before: variants in MYPN, YWHAE, NOS1AP and OBSCN. The researchers built a polygenic risk score and tested it in 411,213 UK Biobank participants. The score predicted HCM diagnosis and correlated with greater left ventricular wall thickness in people without the disease. Among HCM patients who tested negative for single-gene variants, those in the top 20% of the polygenic risk distribution faced nearly triple the risk of sudden cardiac death (HR=2.72, 95% CI 1.03 to 7.17).
The polygenic risk score may help identify HCM patients at higher risk of sudden cardiac death even when standard genetic testing comes back negative.
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].