PGS Publication: PGP000420

Publication Information (EuropePMC)
Title Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.
PubMed ID 31345425(Europe PMC)
doi 10.1016/j.jacc.2019.05.043
Publication Date July 1, 2019
Journal J Am Coll Cardiol
Author(s) Trinder M, Li X, DeCastro ML, Cermakova L, Sadananda S, Jackson LM, Azizi H, Mancini GBJ, Francis GA, Frohlich J, Brunham LR.
Released in PGS Catalog: Jan. 19, 2023

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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Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
Scoring File (FTP Link)
PGP000420 |
Trinder M et al. J Am Coll Cardiol (2019)
LDL cholesterol low density lipoprotein cholesterol measurement 28

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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM017041 PGS003403
European Ancestry|
626 individuals
PGP000420 |
Trinder M et al. J Am Coll Cardiol (2019)
Reported Trait: LDL-C levels pvalue (High >=80 percentile vs lower <80th percentile): 0.03
PPM017042 PGS003403
European Ancestry|
626 individuals
PGP000420 |
Trinder M et al. J Am Coll Cardiol (2019)
Reported Trait: Cardiovascular disease events in patients with monogenic familial hypercholesterolemia Adjusted Hazard Ratio (aHR; top 20% vs. remaining): 3.06 [1.56, 5.99] age, sex, LDL-C, diabetes mellitus, and hypertension

Evaluated Samples

PGS Sample Set 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
PSS010102 626 individuals,
49.4 % Male samples
Mean = 46.2 years European BCFH