PGS Publication: PGP000408

Publication Information (EuropePMC)
Title Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia.
PubMed ID 36643796(Europe PMC)
doi 10.1016/j.athplu.2022.10.002
Publication Date Nov. 11, 2022
Journal Atheroscler Plus
Author(s) Borg SÁ, Sørensen Bork C, Skjelbo Nielsen MR, Jóanesarson J, Zaremba T, Lolas IBY, Lundbye-Christensen S, Søgaard P, Berg Schmidt E, Joensen AM.
Released in PGS Catalog: Dec. 20, 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

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
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000814
(GRS12_LDLc)
 PGP000200 |
Talmud PJ et al. Lancet (2013)
 LDL cholesterol low density lipoprotein cholesterol measurement 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000814/ScoringFiles/PGS000814.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
PPM016207 PGS000814
(GRS12_LDLc)
 PSS010058|
Ancestry Not Reported|
237 individuals
 PGP000408 |
Borg SÁ et al. Atheroscler Plus (2022)
|Ext.		 Reported Trait: Coronary artery calcium score >0 in potential clinical FH cases — — Odds ratio (OR, >80 percentile vs <= 80 percentile): 8.05 [1.65, 39.29] Smoking, hypertension, waist circumference and lipoprotein(a) —

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
PSS010058 Cases are potential clinical FH cases —
[
  • 120 cases
  • , 117 controls
]
 — Not reported — NR —