Polygenic Score (PGS) ID: PGS004911

Predicted Trait
Reported Trait Hypertrophic cardiomyopathy (MTAG)
Mapped Trait(s) hypertrophic cardiomyopathy (EFO_0000538)
Additional Trait Information Multi-trait analysis incorporating LV end-systolic volume, global LV circumferential strain, LV concentricity
Released in PGS Catalog: Feb. 26, 2025
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Score Details

Score Construction
PGS Name hcm.mtag
Development Method
Name PRS-CS
Parameters Genome-wide
Variants
Original Genome Build hg19
Number of Variants 374,114
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000642
Citation (link to publication) Zheng SL et al. Nat Genet (2025)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
74,259 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
[
  • 5,900 cases
  • , 68,359 controls
]
 European BRRD, GEL, HCMR, RBH-CRB

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
PPM021367 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 —

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 —