PGS Publication: PGP000327

Publication Information (EuropePMC)
Title Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk.
PubMed ID 35133173(Europe PMC)
doi 10.1161/circgen.121.003489
Publication Date Feb. 8, 2022
Journal Circ Genom Precis Med
Author(s) Coassin S, Chemello K, Khantalin I, Forer L, Döttelmayer P, Schönherr S, Grüneis R, Chong-Hong-Fong C, Nativel B, Ramin-Mangata S, Gallo A, Roche M, Muelegger B, Gieger C, Peters A, Zschocke J, Marimoutou C, Meilhac O, Lamina C, Kronenberg F, Blanchard V, Lambert G.
Released in PGS Catalog: May 18, 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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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
GWAS
Dev
Eval
Scoring File (FTP Link)
PGS002297
(GRS48_lpa)
PGP000327 |
Coassin S et al. Circ Genom Precis Med (2022)
Lipoprotein A levels lipoprotein A measurement 48
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002297/ScoringFiles/PGS002297.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
PPM013026 PGS002297
(GRS48_lpa)
PSS009655|
Ancestry Not Reported|
22 individuals
PGP000327 |
Coassin S et al. Circ Genom Precis Med (2022)
Reported Trait: Lipoprotein (a) levels : 0.53

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
PSS009655 22 individuals,
50.0 % Male samples
Not reported NR