Publication
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.
Tadros R, Ware JS, Bezzina CR, Watkins H, et al.
Nature Genetics. 2025 Mar;57(3):530–538. doi: 10.1038/s41588-025-02087-4.
PMID: 36778260
Phenotypes
- Hypertrophic cardiomyopathy
- Hypertrophic cardiomyopathy (sarcomere-positive)
- Hypertrophic cardiomyopathy (sarcomere-negative)
- Hypertrophic cardiomyopathy (MTAG)
Experiment summary
This study meta-analyzed seven mixed ancestry HCM GWAS datasets (5,900 cases; 68,359 controls) and integrated multi-trait analyses with UK Biobank cardiac MRI data (N=36,083), identifying 70 loci for HCM (50 novel) and 62 loci for left ventricular traits. Prioritization highlighted SVIL as a novel HCM gene (rare truncating variants ≈10× risk), and Mendelian randomization supported a causal role of increased LV contractility in both obstructive and non-obstructive HCM.
Dataset ID
Tadros2023_Cardiomyopathy_Mixed