Polygenic Score (PGS) ID: PGS003868

Predicted Trait
Reported Trait Cardiomyopathy
Mapped Trait(s) cardiomyopathy (EFO_0000318)
Released in PGS Catalog: Nov. 1, 2023
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Score Details

Score Construction
PGS Name CM_LDpred2_ARB
Development Method
Name LDpred2
Parameters P7_hsq0.7
Variants
Original Genome Build hg19
Number of Variants 1,010,014
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000501
Citation (link to publication) Shim I et al. Nature Communications (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 98.2%
South Asian: 0.8%
Not Reported: 0.4%
African: 0.3%
East Asian: 0.3%
36,041 individuals (100%)
PGS Evaluation
Greater Middle Eastern: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010125
Europe PMC: 32382064
 35,407 individuals European NR
GWAS Catalog: GCST010125
Europe PMC: 32382064
 95 individuals African unspecified NR
GWAS Catalog: GCST010125
Europe PMC: 32382064
 108 individuals East Asian NR
GWAS Catalog: GCST010125
Europe PMC: 32382064
 303 individuals South Asian NR
GWAS Catalog: GCST010125
Europe PMC: 32382064
 128 individuals Not reported NR

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
PPM018760 PSS011097|
Greater Middle Eastern Ancestry|
2,669 individuals
 PGP000501 |
Shim I et al. Nature Communications (2023)
 Reported Trait: Cardiomyopathy OR: 1.34 [1.13, 1.64] AUROC: 0.6453 [0.6086, 0.6819] — age, sex, array version, and the first 10 principal components of ancestry —

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
PSS011097 — — 2,669 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian)
(Arab)		 — NR N total after excluding missing values = 2,553