| Publication Information (EuropePMC) | |
| Title | Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk. |
| PubMed ID | 41419685(Europe PMC) |
| doi | 10.1038/s41588-025-02397-7 |
| Publication Date | Dec. 19, 2025 |
| Journal | Nat Genet |
| Author(s) | Kany S, Rämö JT, Hou C, Jurgens SJ, Khurshid S, Nauffal V, Cunningham JW, Lau ES, Koyama S, FinnGen, Ho JE, Olgin JE, Elmariah S, Palotie A, Lindsay ME, Ellinor PT, Pirruccello JP. |
| 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) |
|---|---|---|---|---|---|---|
| PGS005257 (aortic_valve_area) |
PGP000747 | Kany S et al. Nat Genet (2025) |
Aortic valve area | aortic measurement | 1,111,632 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005257/ScoringFiles/PGS005257.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 |
| 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 |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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. | — |
| PPM022740 | PGS005257 (aortic_valve_area) |
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. | — |
|
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) | — | [
|
— | European | — | AllofUs | — |