Trait: aortic stenosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000266
Description
  • A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
  • Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.
  • Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS.
Trait category
Cardiovascular disease
Synonyms 13 synonyms
  • AS
  • AS - Aortic stenosis
  • Aortic Valve Stenoses
  • Aortic Valve Stenosis
  • Aortic valve stenosis (disorder)
  • Aortic valve stenosis, NOS
  • Stenosed aortic valve
  • Stenoses, Aortic
  • Stenoses, Aortic Valve
  • Stenosis, Aortic
  • Stenosis, Aortic Valve
  • Valve Stenoses, Aortic
  • Valve Stenosis, Aortic

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS005252
(IAVGC_AS_PRS)
 PGP000745 |
Small AM et al. Nat Genet (2025)
 Aortic stenosis aortic stenosis 1,119,377
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005252/ScoringFiles/PGS005252.txt.gz
PGS005254
(aortic_stenosis)
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Aortic stenosis aortic stenosis 1,110,912
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005254/ScoringFiles/PGS005254.txt.gz
PGS005255
(mean_gradient)
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Mean pressure gradient aortic stenosis,
aortic measurement		 1,111,632
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005255/ScoringFiles/PGS005255.txt.gz
PGS005256
(peak_velocity)
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Peak aortic velocity aortic stenosis,
aortic measurement		 1,111,632
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005256/ScoringFiles/PGS005256.txt.gz

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) 		Evaluated Score 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 PGS005252
(IAVGC_AS_PRS)
 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 PGS005252
(IAVGC_AS_PRS)
 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 PGS005252
(IAVGC_AS_PRS)
 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. —
PPM022737 PGS005254
(aortic_stenosis)
 PSS012068|
European Ancestry|
244,450 individuals
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Reported Trait: incident aortic stenosis HR: 1.64 [1.5, 1.78] — — self-reported sex, age at DNA collection, age2 at DNA collection, and the first five principal components of genetic ancestry. —
PPM022738 PGS005255
(mean_gradient)
 PSS012068|
European Ancestry|
244,450 individuals
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Reported Trait: incident aortic stenosis HR: 1.53 [1.4, 1.66] — — self-reported sex, age at DNA collection, age2 at DNA collection, and the first five principal components of genetic ancestry. —
PPM022739 PGS005256
(peak_velocity)
 PSS012068|
European Ancestry|
244,450 individuals
 PGP000747 |
Kany S et al. Nat Genet (2025)
 Reported Trait: incident aortic stenosis HR: 1.53 [1.41, 1.67] — — self-reported sex, age at DNA collection, age2 at DNA collection, and the first five principal components of genetic ancestry. —

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 —
PSS012068 incident aortic stenosis (using ICD and CPT codes) —
[
  • 496 cases
  • , 243,954 controls
]
 — European — AllofUs —