PGS Publication: PGP000421

Publication Information (EuropePMC)
Title Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
PubMed ID 27765764(Europe PMC)
doi 10.1161/atvbaha.116.308027
Publication Date Oct. 20, 2016
Journal Arterioscler Thromb Vasc Biol
Author(s) Wang J, Dron JS, Ban MR, Robinson JF, McIntyre AD, Alazzam M, Zhao PJ, Dilliott AA, Cao H, Huff MW, Rhainds D, Low-Kam C, Dubé MP, Lettre G, Tardif JC, Hegele RA.
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
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
East Asian
South Asian
Additional Asian Ancestries
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
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)
PGP000421 |
Wang J et al. Arterioscler Thromb Vasc Biol (2016)
LDL cholesterol low density lipoprotein cholesterol measurement 10

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
PPM017043 PGS003404
Multi-ancestry (including European)|
313 individuals
PGP000421 |
Wang J et al. Arterioscler Thromb Vasc Biol (2016)
Reported Trait: FH mutation-negative with severe hypercholesterolemia OR: 3.02 [1.61, 5.68]

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
PSS010103 313 individuals,
41.5 % Male samples
Mean = 51.0 years South Asian, European, African unspecified, NR South Asian, European, African, NR NR Ontario hypercholesterolemia cohort