PGS Publication: PGP000695

Publication Information (EuropePMC)
Title Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia.
PubMed ID 38938725(Europe PMC)
doi 10.1016/j.jacadv.2023.100662
Publication Date Oct. 28, 2023
Journal JACC Adv
Author(s) Reeskamp LF, Shim I, Dron JS, Ibrahim S, Tromp TR, Fahed AC, Patel AP, Hutten BA, Stroes ESG, Hovingh GK, Khera AV.
Released in PGS Catalog: Dec. 16, 2024

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)
PGS003727
(GPS_CADEUR)
 PGP000466 |
Patel AP et al. Nat Med (2023)
 Coronary artery disease coronary artery disease 1,125,113
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003727/ScoringFiles/PGS003727.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
PPM022291 PGS003727
(GPS_CADEUR)
 PSS011903|
Multi-ancestry (including European)|
429 individuals
 PGP000695 |
Reeskamp LF et al. JACC Adv (2023)
|Ext.		 Reported Trait: Incident coronary artery disease among heterozygous familial hypercholesterolemia variant carriers HR: 1.31 [0.97, 1.77] — — Age, sex, 5 PCs —
PPM022290 PGS003727
(GPS_CADEUR)
 PSS011902|
European Ancestry|
1,315 individuals
 PGP000695 |
Reeskamp LF et al. JACC Adv (2023)
|Ext.		 Reported Trait: Incident coronary artery disease among heterozygous familial hypercholesterolemia variant carriers HR: 1.35 [1.07, 1.7] — — Age, sex, 5 PCs —

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
PSS011902 — — 1,315 individuals,
47.1 % Male samples
 Mean = 42.1 years
Sd = 14.6 years		 European
(Dutch)		 — Dutch HeFH —
PSS011903 — — 383 individuals — European — UKB Independent to UKB cohort used to train the PGS
PSS011903 — — 27 individuals — Asian unspecified — UKB Independent to UKB cohort used to train the PGS
PSS011903 — — 9 individuals — African American or Afro-Caribbean — UKB Independent to UKB cohort used to train the PGS
PSS011903 — — 10 individuals — Not reported — UKB Independent to UKB cohort used to train the PGS