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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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

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

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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
PPM021755PSS011782|
Multi-ancestry (including European)|
326,106 individuals
PGP000672 |
Jurgens SJ et al. Nat Genet (2024)
Reported Trait: Non-ischemic dilated cardiomyopathyOR: 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, PC1-12beta represents log(OR) per SD of PRS
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Evaluated Samples

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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
PSS011782ICD10 I42.0; excluding antecedent acute coronary disease and/or revascularization—
[
  • 793 cases
  • , 325,313 controls
]
—European, Not reported—UKBPlease note: UKB samples included in the first 45k MRI tranche were removed from this testing set, s... ince the MTAG data includes GWAS data of cardiac MRI traits from the UKB.Show more
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