Trait: left ventricular systolic function measurement

Experimental Factor Ontology (EFO) Information
Identifier EFO_0008206
Description quantification of some aspect of the systolic function of the left cardiac ventricle such as ventricular fractional shortening or systolic dysfunction
Trait category
Cardiovascular measurement

Associated Polygenic Score(s)

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000666 PGS_LVESVi PGP000126 Pirruccello JP et al. Nat Commun (2020) Body surface area-indexed left ventricular end-systolic volume left ventricular systolic function measurement 28 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000666/ScoringFiles/PGS000666.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM001377 PGS000666 (PGS_LVESVi) PSS000604 PGP000126
Pirruccello JP et al. (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.
PPM001376 PGS000666 (PGS_LVESVi) PSS000603 PGP000126
Pirruccello JP et al. (2020)
Reported Trait: Nonischemic dilated cardiomyopathy OR: 1.51 age at enrollment, genotyping array, PCs(1-5) of ancestry.

Evaluated Samples

PGS Sample Set ID
(PSS ID)
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
]
Not reported 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 unpecified = 2937, East Asain = 1303, European = 348778, NR = 3670, South Asian =6234 UKB