PGS Publication: PGP000311

Publication Information (EuropePMC)
Title Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.
PubMed ID 35322671(Europe PMC)
doi 10.1161/jaha.121.023668
Publication Date March 24, 2022
Journal J Am Heart Assoc
Author(s) Olmastroni E, Gazzotti M, Arca M, Averna M, Pirillo A, Catapano AL, Casula M, LIPIGEN Study Group†.
Released in PGS Catalog: April 13, 2022

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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Hispanic or Latin American
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
Scoring File (FTP Link)
PGP000200 |
Talmud PJ et al. Lancet (2013)
LDL cholesterol low density lipoprotein cholesterol measurement 12

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
PPM012972 PGS000814
Ancestry Not Reported|
1,519 individuals
PGP000311 |
Olmastroni E et al. J Am Heart Assoc (2022)
Reported Trait: Polygenic hypercholesterolemia AUROC: 0.59 [0.56, 0.62] Sensitivity (%, cutoff of 0.905): 78.0
Specificity (%, cutoff of 0.905): 36.0

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
  • 875 cases
  • , 644 controls
Not reported NR LIPIGEN (Lipid TransPort Disorders italian Genetic Network) database