Trait: aortic valve disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009531
Description A disease involving the aortic valve.
Trait category
Cardiovascular disease
Synonyms 6 synonyms
  • aortic valve disease
  • aortic valve disease or disorder
  • aortic valve disorder
  • disease of aortic valve
  • disease or disorder of aortic valve
  • disorder of aortic valve
Mapped terms 12 mapped terms
  • DOID:62
  • ICD10:I06
  • ICD10:I35
  • ICD9:395
  • ICD9:424.1
  • MEDGEN:226776
  • MONDO:0003803
  • MedDRA:10061589
  • NCIT:C78650
  • NCIt:C78650
  • OMIM:618496
  • UMLS:C1260873
Child trait(s) aortic stenosis

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
Note: This table shows all PGS for "aortic valve disease" and any child terms of this trait in the EFO hierarchy by default.
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)
PGS001025
(GBE_HC951)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Nonrheumatic aortic valve disorders (time-to-event) aortic valve disease 36
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001025/ScoringFiles/PGS001025.txt.gz
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
PPM007888 PGS001025
(GBE_HC951)
 PSS004736|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.82312 [0.77164, 0.87459] R²: 0.11205
Incremental AUROC (full-covars): -0.00433
PGS R2 (no covariates): 0.00601
PGS AUROC (no covariates): 0.42408 [0.32798, 0.52019]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007889 PGS001025
(GBE_HC951)
 PSS004737|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.85035 [0.70276, 0.99795] R²: 0.20912
Incremental AUROC (full-covars): 0.0036
PGS R2 (no covariates): 0.00383
PGS AUROC (no covariates): 0.57568 [0.385, 0.76636]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007890 PGS001025
(GBE_HC951)
 PSS004738|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.7688 [0.74115, 0.79645] R²: 0.09382
Incremental AUROC (full-covars): 0.00229
PGS R2 (no covariates): 0.00416
PGS AUROC (no covariates): 0.55883 [0.52408, 0.59358]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007891 PGS001025
(GBE_HC951)
 PSS004739|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.7872 [0.73952, 0.83487] R²: 0.10086
Incremental AUROC (full-covars): 2e-05
PGS R2 (no covariates): 0.00021
PGS AUROC (no covariates): 0.49071 [0.41731, 0.5641]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007892 PGS001025
(GBE_HC951)
 PSS004740|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: TTE nonrheumatic aortic valve disorders — AUROC: 0.72257 [0.70467, 0.74046] R²: 0.05934
Incremental AUROC (full-covars): 0.00304
PGS R2 (no covariates): 0.00268
PGS AUROC (no covariates): 0.5466 [0.52408, 0.56913]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
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
PSS004736 — —
[
  • 36 cases
  • , 6,461 controls
]
 — African unspecified — UKB —
PSS004737 — —
[
  • 10 cases
  • , 1,694 controls
]
 — East Asian — UKB —
PSS004738 — —
[
  • 262 cases
  • , 24,643 controls
]
 — European non-white British ancestry UKB —
PSS004739 — —
[
  • 65 cases
  • , 7,766 controls
]
 — South Asian — UKB —
PSS004740 — —
[
  • 654 cases
  • , 66,771 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)
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 —
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)
PSS012068 incident aortic stenosis (using ICD and CPT codes) —
[
  • 496 cases
  • , 243,954 controls
]
 — European — AllofUs —