Polygenic Score (PGS) ID: PGS000666

Predicted Trait
Reported Trait Body surface area-indexed left ventricular end-systolic volume
Mapped Trait(s) left ventricular systolic function measurement (EFO_0008206)
Released in PGS Catalog: Jan. 7, 2021
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Score Details

Score Construction
PGS Name PGS_LVESVi
Development Method
Name Genome-wide significant variants
Parameters p<5e-8
Variants
Original Genome Build GRCh37
Number of Variants 28
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000126
Citation (link to publication) Pirruccello JP et al. Nat Commun (2020)
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
Not Reported: 50%
Multi-ancestry (including European): 50%
  • European
  • South Asian
  • African
  • East Asian
  • Not Reported
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST010127
Europe PMC: 32382064
95 individuals African unspecified UKB
GWAS Catalog: GCST010127
Europe PMC: 32382064
128 individuals NR UKB
GWAS Catalog: GCST010127
Europe PMC: 32382064
35,407 individuals European UKB
GWAS Catalog: GCST010127
Europe PMC: 32382064
108 individuals East Asian UKB
GWAS Catalog: GCST010127
Europe PMC: 32382064
303 individuals South Asian UKB

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
PPM001376 PSS000603|
Ancestry Not Reported|
449,027 individuals
PGP000126 |
Pirruccello JP et al. Nat Commun (2020)
Reported Trait: Nonischemic dilated cardiomyopathy OR: 1.51 age at enrollment, genotyping array, PCs(1-5) of ancestry.
PPM001377 PSS000604|
Multi-ancestry (including European)|
362,922 individuals
PGP000126 |
Pirruccello JP et al. Nat Commun (2020)
Reported Trait: Incident nonischemic dilated cardiomyopathy HR: 1.58 [1.43, 1.76] cubic basis spline of age at enrollment, sex, genotyping array, PCs(1-5) 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
PSS000603 Hospitalization for or death due to ICD-10 code for dilated cardiomyopathy (I42.0); excluding individuals with history of coronary artery disease (as defined below), or history of hypertrophic cardiomyopathy during verbal interview with trained nurse, or hospitalization for or death due to ICD-10 code for hypertrophic cardiomyopathy (I42.1, I42.2)
[
  • 923 cases
  • , 448,104 controls
]
NR UKB
PSS000604 Incident DCM: Hospitalization for or death due to ICD-10 code for dilated cardiomyopathy (I42.0); excluding individuals with history of coronary artery disease (as defined below), or history of hypertrophic cardiomyopathy during verbal interview with trained nurse, or hospitalization for or death due to ICD-10 code for hypertrophic cardiomyopathy (I42.1, I42.2).In participants who had not undergone cardiac MRI, were free from CHF, DCM, and CAD at baseline, and who were not identified by the UK Biobank as having third-degree or closer relatedness to another participant.
[
  • 380 cases
  • , 362,542 controls
]
,
45.0 % Male samples
Mean = 57.0 years
Sd = 8.1 years
European, South Asian, African unspecified, East Asian, NR African unspecified = 2937, East Asain = 1303, European = 348778, NR = 3670, South Asian =6234 UKB