PGS Publication: PGP000642

Publication Information (EuropePMC)
Title Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings.
PubMed ID 39966645(Europe PMC)
doi 10.1038/s41588-025-02094-5
Publication Date Feb. 18, 2025
Journal Nat Genet
Author(s) Zheng SL, Jurgens SJ, McGurk KA, Xu X, Grace C, Theotokis PI, Buchan RJ, Francis C, de Marvao A, Curran L, Bai W, Pua CJ, Tang HC, Jorda P, van Slegtenhorst MA, Verhagen JMA, Harper AR, Ormondroyd E, Chin CWL, HCM GWAS Collaborators, Pantazis A, Baksi J, Halliday BP, Matthews P, Pinto YM, Walsh R, Amin AS, Wilde AAM, Cook SA, Prasad SK, Barton PJR, O'Regan DP, Lumbers RT, Goel A, Tadros R, Michels M, Watkins H, Bezzina CR, Ware JS.
Released in PGS Catalog: Feb. 26, 2025

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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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)
PGS004910
(hcm.gwama)
 PGP000642 |
Zheng SL et al. Nat Genet (2025)
 Hypertrophic cardiomyopathy hypertrophic cardiomyopathy 374,190
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004910/ScoringFiles/PGS004910.txt.gz
PGS004911
(hcm.mtag)
 PGP000642 |
Zheng SL et al. Nat Genet (2025)
 Hypertrophic cardiomyopathy (MTAG) hypertrophic cardiomyopathy 374,114
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004911/ScoringFiles/PGS004911.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
PPM021367 PGS004911
(hcm.mtag)
 PSS011704|
European Ancestry|
343,182 individuals
 PGP000642 |
Zheng SL et al. Nat Genet (2025)
 Reported Trait: Hypertrophic cardiomyopathy HR: 2.34
OR: 1.33		 AUROC: 0.8 R²: 0.048
Odds ratio (OR, high vs median tertile): 5.9		 age, age^2, sex, PC1-10 —
PPM021366 PGS004910
(hcm.gwama)
 PSS011704|
European Ancestry|
343,182 individuals
 PGP000642 |
Zheng SL et al. Nat Genet (2025)
 Reported Trait: Hypertrophic cardiomyopathy HR: 1.97
OR: 1.26		 AUROC: 0.73 R²: 0.031
Odds ratio (OR, high vs median tertile): 5.5		 age, age^2, sex, PC1-10 —

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
PSS011704 — —
[
  • 366 cases
  • , 342,816 controls
]
 — European — UKB —