Polygenic Score (PGS) ID: PGS004948

Predicted Trait
Reported Trait Dilated cardiomyopathy
Mapped Trait(s) dilated cardiomyopathy (EFO_0000407)
Released in PGS Catalog: Dec. 16, 2024
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Score Details

Score Construction
PGS Name DCM_GWAS_exclUKB
Development Method
Name PRS-CS
Parameters phi auto-mode applied
Variants
Original Genome Build GRCh37
Number of Variants 1,068,761
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000672
Citation (link to publication) Jurgens SJ et al. Nat Genet (2024)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 91.2%
Multi-ancestry (including European): 8.8%
  • European
  • African
  • Hispanic or Latin American
  • Additional Asian Ancestries
483,327 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • European
  • Not Reported
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST012211
Europe PMC: 33677556
 6,980 individuals European NR
GWAS Catalog: GCST002093
Europe PMC: 23853074
 3,029 individuals European NR
Europe PMC: 36653562
[
  • 3,550 cases
  • , 419,370 controls
]
 European
(Finnish)		 FinnGen
—
[
  • 783 cases
  • , 6,978 controls
]
 European
(Dutch)		 AUMC_DCM
[
  • 407 cases
  • , 42,230 controls
]
 European, African unspecified, Hispanic or Latin American, Asian unspecified MGBB

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
PPM021755 PSS011782|
Multi-ancestry (including European)|
326,106 individuals
 PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
 Reported Trait: Non-ischemic dilated cardiomyopathy OR: 1.64
β: 0.49 (0.04)		 — Nagelkerke pseudo-R^2 full model: 0.049
Nagelkerke pseudo-R^2 delta PRS/residual: 0.018
Liability-scale R^2 (assuming 0.4% prev) full model: 0.186
Liability-scale R^2 (assuming 0.4% prev) delta PRS/residual: 0.06
Univariate (PRS only) AUC: 0.64 [0.62, 0.66]
Univariate (PRS only) AUPRC: 0.0042		 Age, age^2, sex, array, PC1-12 beta represents log(OR) per SD of PRS

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
PSS011782 ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization —
[
  • 793 cases
  • , 325,313 controls
]
 — European, Not reported — UKB Please note: UKB samples included in the first 45k MRI tranche were removed from this testing set, since the MTAG data includes GWAS data of cardiac MRI traits from the UKB.