Polygenic Score (PGS) ID: PGS002292

Predicted Trait
Reported Trait Keratoconus
Mapped Trait(s) Keratoconus (Orphanet_156071)
Released in PGS Catalog: May 18, 2022
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Score Details

Score Construction
PGS Name PRS36_KC
Development Method
Name Genome-wide significant variants
Parameters lead variants
Variants
Original Genome Build GRCh37
Number of Variants 36
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000321
Citation (link to publication) He W et al. JAMA Ophthalmol (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
26,742 individuals (100%)
PGS Evaluation
European: 100%
1 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90013442
Europe PMC: 33649486
26,742 individuals European NR

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)
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 PSS009647|
European Ancestry|
142,595 individuals
PGP000321 |
He W et al. JAMA Ophthalmol (2022)
Reported Trait: Keratoconus AUROC: 0.705
PPM013013 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 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