PGS Publication: PGP000321

Publication Information (EuropePMC)
Title Association of Novel Loci With Keratoconus Susceptibility in a Multitrait Genome-Wide Association Study of the UK Biobank Database and Canadian Longitudinal Study on Aging.
PubMed ID 35446358(Europe PMC)
doi 10.1001/jamaophthalmol.2022.0891
Publication Date April 21, 2022
Journal JAMA Ophthalmol
Author(s) He W, Han X, Ong JS, Hewitt AW, Mackey DA, Gharahkhani P, MacGregor S, International Glaucoma Genetics Consortium.
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)
PGS002292
(PRS36_KC)
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Keratoconus keratoconus 36
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002292/ScoringFiles/PGS002292.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
PPM013012 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus — AUROC: 0.705 — — —
PPM013013 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus with corneal resistance factor variants — AUROC: 0.756 — — —
PPM013014 PGS002292
(PRS36_KC)
 PSS009647|
European Ancestry|
142,595 individuals
 PGP000321 |
He W et al. JAMA Ophthalmol (2022)
 Reported Trait: Keratoconus with central corneal thickness variants — AUROC: 0.755 — — —

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
PSS009647 Keratoconus cases (ICD10 diagnosis code H186) and healthy controls without severe eye diseases (UKB Field 6148) —
[
  • 102 cases
  • , 142,493 controls
]
 — European — UKB —