Polygenic Score (PGS) ID: PGS005252

Predicted Trait
Reported Trait Aortic stenosis
Mapped Trait(s) aortic stenosis (EFO_0000266)
Released in PGS Catalog: Jan. 19, 2026
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Terms and Licenses
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Score Details

Score Construction
PGS Name IAVGC_AS_PRS
Development Method
Name LDPred2
Parameters Proportion of causal SNPS: 0.056; heritability 1.4; sparsity enabled
Variants
Original Genome Build GRCh38
Number of Variants 1,119,377
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000745
Citation (link to publication) Small AM et al. Nat Genet (2025)
Ancestry Distribution
Score Development/Training
European: 100%
47,691 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Score Development/Training
Study Identifiers Sample Numbers Sample Ancestry Cohort(s) Phenotype Definitions & Methods Age of Study Participants Participant Follow-up Time Additional Ancestry Description Additional Sample/Cohort Information
Europe PMC: 37961173
[
  • 2,368 cases
  • , 45,323 controls
]
,
45.7 % Male samples
European
(European)
MGBB IAVGC phenotype definition (see detailed description in manuscript) Mean = 53.4 years

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM022733 PSS012066|
European Ancestry|
446,895 individuals
PGP000745 |
Small AM et al. Nat Genet (2025)
Reported Trait: Incident aortic stenosis cases HR: 1.92 C-index: 0.87 age, sex, genetic ancestry principal components 1-5, type 2 diabetes, hypertension, coronary artery disease, hyperlipidemia, body mass index, current smoking, renal failure.
PPM022734 PSS012065|
European Ancestry|
34,024 individuals
PGP000745 |
Small AM et al. Nat Genet (2025)
Reported Trait: Any aortic stenosis OR: 1.43 age, sex, genetic ancestry principal components 1-5, type 2 diabetes, hypertension, coronary artery disease, hyperlipidemia, body mass index, current smoking, renal failure.
PPM022735 PSS012064|
European Ancestry|
59,866 individuals
PGP000745 |
Small AM et al. Nat Genet (2025)
Reported Trait: Incident aortic stenosis cases HR: 1.8 C-index: 0.76 age, sex, genetic ancestry principal components 1-5, type 2 diabetes, hypertension, coronary artery disease, hyperlipidemia, body mass index, current smoking, renal failure.

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS012064 The aortic stenosis PRS was tested for its association with aortic stenosis using safety data from the TIMI trials. Aortic stenosis was called for any adverse event referencing aortic stenosis, including new or worsening aortic stenosis.
[
  • 256 cases
]
European
(European)
ENGAGE_AF-TIMI_48, FOURIER, PEGASUS-TIMI_54, SAVOR-TIMI_53, SOLID-TIMI_52 These data also include samples from DECLARE-TIMI 58 (not in the cohort refr. List)
PSS012065 IAVGC phenotype definition (see detailed description in manuscript)
[
  • 1,806 cases
]
European
(European)
UCLA
PSS012066 IAVGC phenotype definition (see detailed description in manuscript)
[
  • 3,302 cases
]
Mean = 62.1 years European
(European)
UKB