PGS Publication: PGP000707

Publication Information (EuropePMC)
Title Reduced Ejection Fraction in Elite Endurance Athletes: Clinical and Genetic Overlap With Dilated Cardiomyopathy.
PubMed ID 38109351(Europe PMC)
doi 10.1161/circulationaha.122.063777
Publication Date Dec. 18, 2023
Journal Circulation
Author(s) Claessen G, De Bosscher R, Janssens K, Young P, Dausin C, Claeys M, Claus P, Goetschalckx K, Bogaert J, Mitchell AM, Flannery MD, Elliott AD, Yu C, Ghekiere O, Robyns T, Van De Heyning CM, Sanders P, Kalman JM, Ohanian M, Soka M, Rath E, Giannoulatou E, Johnson R, Lacaze P, Herbots L, Willems R, Fatkin D, Heidbuchel H, La Gerche A, Pro@Heart Consortium.
Released in PGS Catalog: Feb. 26, 2025

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 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
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000666/ScoringFiles/PGS000666.txt.gz

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) 		Evaluated Score 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
PPM022381 PGS000666
(PGS_LVESVi)
 PSS011932|
European Ancestry|
281 individuals
 PGP000707 |
Claessen G et al. Circulation (2023)
|Ext.		 Reported Trait: Reduced Ejection Fraction — — Hazard ratio (HR, high vs low quartiles): 2.24 [0.96, 6.38] — —

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
PSS011932 — — 281 individuals — European — Pro@Heart, ProAFHeart —