Key result
GWAS identifies IL6, ALPL, and NAV1 as 3 new susceptibility loci for calcific aortic valve stenosis.
Why the study?
Only two replicated loci, LPA and PALMD, had been identified as causal genes for calcific aortic valve stenosis, motivating the search for additional susceptibility genes.
Population
5,115 CAVS cases and 354,072 controls of European descent plus 233 human aortic valves for eQTL study
Comparison
Genetic variants associated with CAVS versus controls
Design
GWAS meta-analysis integrating transcriptome-wide association study
Authors
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IL6 and ALPL loci expand CAVS susceptibility genes; extends LPA/PALMD findings and leaves open clinical translation.
Meta-Analysis (n=359,187)
Yes
p-value: p=<5x10-8
This GWAS meta-analysis identifies IL6, ALPL, and NAV1 as novel susceptibility genes for calcific aortic valve stenosis, implicating inflammation, mineralization, and blood vessel integrity in its pathogenesis.
Thériault et al. (2019) conducted a meta-analysis in Calcific aortic valve stenosis (n=359,187). Genetic variants at IL6, ALPL, and NAV1 loci vs. Reference alleles was evaluated on Genome-wide significant association with calcific aortic valve stenosis (p=<5x10-8). A genome-wide association study meta-analysis identified IL6, ALPL, and NAV1 as three new susceptibility loci for calcific aortic valve stenosis.
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