Key result
A large-scale genome-wide association study identified 70 loci associated with hypertrophic cardiomyopathy and demonstrated a 10.5-fold excess burden of SVIL loss-of-function variants in HCM cases.
Why the study?
Hypertrophic cardiomyopathy is an important cause of morbidity and mortality with both monogenic and polygenic components, motivating larger genome-wide analyses to understand its genetic basis.
What are the novel genetic loci and mechanisms associated with hypertrophic cardiomyopathy?
Population
5,900 HCM cases, 68,359 controls, and 36,083 UK Biobank participants with CMR imaging
Comparison
HCM cases vs controls and individuals with CMR imaging
Design
Genome-wide association study and multi-trait analysis
Authors
Loading...
May refine future HCM polygenic scores; leaves open clinical validation and utility.
Meta-Analysis (n=110,342)
Yes
What are the novel genetic loci and mechanisms associated with hypertrophic cardiomyopathy?
Odds Ratio: 10.5 (95% CI 4.1–26.8)
p-value: p=2.3x10-7
This large-scale GWAS identified 70 genetic loci associated with HCM and established SVIL as a novel disease gene, supporting increased LV contractility as a causal mechanism in both obstructive and non-obstructive HCM.
Tadros et al. (2023) conducted a meta-analysis in Hypertrophic cardiomyopathy (n=110,342). SVIL loss-of-function variants vs. Controls without SVIL loss-of-function variants was evaluated on Hypertrophic cardiomyopathy (OR 10.5, 95% CI 4.1-26.8, p=2.3x10-7). A large-scale genome-wide association study identified 70 loci associated with hypertrophic cardiomyopathy and demonstrated a 10.5-fold excess burden of SVIL loss-of-function variants in HCM cases.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: