Key result
SVIL loss-of-function variants are linked to ~10-fold higher odds of hypertrophic cardiomyopathy.
Why the study?
Prior genome-wide association studies of hypertrophic cardiomyopathy identified few genomic loci and disease genes due to limited sample size.
Comparison
HCM cases versus controls and analysis of LV structural and functional traits
Design
Largest HCM GWAS meta-analysis and multi-trait analysis of GWAS (MTAG)
Authors
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SVIL variants should not yet inform HCM genetic testing or management; extends the disease gene spectrum but remains hypothesis-generating.
Meta-Analysis (n=110,342)
Yes
Odds Ratio: 10.5 (95% CI 4.1–26.8)
p-value: p=0.0000002
A large-scale GWAS meta-analysis identified 50 novel genomic loci for hypertrophic cardiomyopathy and implicated SVIL loss-of-function variants as a novel genetic cause.
Tadros et al. (2023) conducted a meta-analysis in Hypertrophic cardiomyopathy (n=110,342). SVIL loss of function (LoF) variants vs. Controls was evaluated on Hypertrophic cardiomyopathy (HCM) (10.5-fold excess burden, 95% CI 4.1-26.8, p=0.0000002). SVIL loss of function variants were associated with a 10.5-fold excess burden in hypertrophic cardiomyopathy cases compared to controls (95% CI 4.1-26.8; P=0.0000002).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: