PGS Publication: PGP000691

Publication Information (EuropePMC)
Title Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.
PubMed ID 40195560(Europe PMC)
doi 10.1038/s41588-025-02140-2
Publication Date April 7, 2025
Journal Nat Genet
Author(s) Lee DSM, Cardone KM, Zhang DY, Tsao NL, Abramowitz S, Sharma P, DePaolo JS, Conery M, Aragam KG, Biddinger K, Dilitikas O, Hoffman-Andrews L, Judy RL, Khan A, Kullo IJ, Puckelwartz MJ, Reza N, Satterfield BA, Singhal P, Penn Medicine Biobank, Arany Z, Cappola TP, Carruth ED, Day SM, Do R, Haggerty CM, Joseph J, McNally EM, Nadkarni G, Owens AT, Rader DJ, Ritchie MD, Sun YV, Voight BF, Levin MG, Damrauer SM.
Released in PGS Catalog: April 17, 2025

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

PGS Developed By This Publication

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)
PGS005097
(prscsx_meta_HF)
 PGP000691 |
Lee DSM et al. Nat Genet (2025)
 Heart failure heart failure 1,274,692
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005097/ScoringFiles/PGS005097.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
PPM022207 PGS005097
(prscsx_meta_HF)
 PSS011843|
Multi-ancestry (including European)|
40,989 individuals
 PGP000691 |
Lee DSM et al. Nat Genet (2025)
 Reported Trait: Prevalent heart failure — AUROC: 0.72 [0.72, 0.73] Brier skill score: 0.065 [0.063, 0.068] Age, sex, 5 genetic principal components —

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
PSS011843 HF defined as 2 instances of phecode 428 — 29,888 individuals — European — PMB —
PSS011843 HF defined as 2 instances of phecode 428 — 11,101 individuals — African unspecified — PMB —