Polygenic Score (PGS) ID: PGS005097

Predicted Trait
Reported Trait Heart failure
Mapped Trait(s) heart failure (EFO_0003144)
Released in PGS Catalog: April 17, 2025
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Terms and Licenses
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Score Details

Score Construction
PGS Name prscsx_meta_HF
Development Method
Name PRS-CSx
Parameters utilized 'auto' version of PRS-CSx and 'meta' setting.
Variants
Original Genome Build GRCh37
Number of Variants 1,274,692
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000691
Citation (link to publication) Lee DSM et al. Nat Genet (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 80.3%
East Asian: 11.1%
African: 5.9%
Hispanic or Latin American: 2.7%
2,322,691 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • African
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 18,970 cases
]
African unspecified BioMe, MVP, eMERGE
[
  • 161,720 cases
]
European 6 cohorts
  • BioMe
  • ,FinnGen
  • ,HERMES
  • ,MVP
  • ,MyCode
  • ,eMERGE
[
  • 5,116 cases
]
Hispanic or Latin American BioMe, GBMI, MVP, UCLA
[
  • 12,665 cases
]
East Asian BBJ, CKB, GBMI, UCLA

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
PPM022207 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