Polygenic Score (PGS) ID: PGS005257

Predicted Trait
Reported Trait Aortic valve area
Mapped Trait(s) aortic measurement (EFO_0020865)
Released in PGS Catalog: Jan. 19, 2026
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name aortic_valve_area
Development Method
Name PRS-CS
Parameters using summary stats after MTAG with continuous aortic valve traits. PRScs v 1.1.0, "EUR" UK Biobank LD panel, run in auto mode.
Variants
Original Genome Build GRCh38
Number of Variants 1,111,632
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000747
Citation (link to publication) Kany S et al. Nat Genet (2025)
Ancestry Distribution
Score Development/Training
European: 100%
77,183 individuals (100%)
PGS Evaluation
European: 100%
1 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
77,183 individuals European NR measured phenotype from UK Biobank MRI The disease-based aortic stenosis GWAS used for MTAG is from a meta-analysis including data from Chen et al. (13,765 cases; 640,102 controls)19, from Small et al. (14,451 cases; 398,544 controls)6, from all UK Biobank participants who did not undergo cMRI (5,038 cases; 412,301 controls), and from the freeze 12 of FinnGen (12,398 cases; 487,930 controls). The Chen, et al, and UK Biobank analyses had sample overlap, which was accounted for in our analyses. Sample size refers to effective sample size after MTAG.

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
PPM022740 PSS012068|
European Ancestry|
244,450 individuals
PGP000747 |
Kany S et al. Nat Genet (2025)
Reported Trait: incident aortic stenosis HR: 0.71 [0.65, 0.77] 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
PSS012068 incident aortic stenosis (using ICD and CPT codes)
[
  • 496 cases
  • , 243,954 controls
]
European AllofUs