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.Show more
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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Not Reported

PGS Developed By This Publication

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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)
PGS003403
(PRS28_LDL)
PGP000420 |
Trinder M et al. J Am Coll Cardiol (2019)
LDL cholesterollow density lipoprotein cholesterol measurement28
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003403/ScoringFiles/PGS003403.txt.gz
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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.

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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
PPM017041PGS003403
(PRS28_LDL)
PSS010102|
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——
PPM017042PGS003403
(PRS28_LDL)
PSS010102|
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—
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Evaluated Samples

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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
PSS010102——626 individuals,
49.4 % Male samples
Mean = 46.2 yearsEuropean—BCFH—
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