Valvular & structural heart disease
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease
Authors' conclusion
This GWAS adjusted for CAD found a distinct genetic risk profile for AS at the single-marker and polygenic level.
Study context
- Population
- Participants of European ancestry from EGAS, UK Biobank, Estonian Biobank and FinnGen with information on comorbid coronary artery disease (CAD)
- Participants
- 18,792 vs 434,249
- Comparison
- Aortic stenosis (AS) vs controls, adjusted for CAD
- ASn = 18,792
- Controlsn = 434,249reference
- Outcome
- Cardiovascular traits associated with AS adjusted for CAD
Methodological detailsadjusted for CAD, Mendelian randomization, replication in 2 independent cohorts, multicentre, Data analyzed October 2022 to July 2023
- Adjusted for CAD
- Mendelian randomization
- Replication in 2 independent cohorts
- Multicentre
- Data analyzed October 2022 to July 2023
Main finding
As reported in the abstract
AS risk loci
17
Loci with novel and independently replicated associations (RNF114A, AFAP1, PDGFRA, ADAMTS7, HAO1)
5
Loci associated specifically with AS, not with CAD
11
Genetic correlation between AS and CAD (SE 0.05; P = 1.60 × 10-3)
0.15
Further findings
| Outcome | OR (95% CI) | P value | |
|---|---|---|---|
| Serum phosphate (Mendelian randomization)ASvs ControlsAS | 1.20 (1.11–1.31) | P = 1.27 × 10-5 | |
| 0.512Odds ratio (log scale) |
Serum phosphate (Mendelian randomization)
| OR (95% CI) | P value | ||
|---|---|---|---|
| CAD | 0.97 (0.94–1.00) | P = 0.04 | |
| 0.512Odds ratio (log scale) |
BP, BMI and cholesterol metabolism (Mendelian randomization)
- Substantially lesser associations with AS compared with CAD
Original publication
Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease. JAMA Cardiol. Published 1 February 2025. doi:10.
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