Polygenic Score (PGS) ID: PGS000124

Predicted Trait
Reported Trait Intraocular pressure
Mapped Trait(s) intraocular pressure measurement (EFO_0004695)
Additional Trait Information SNPs are associated with interocular pressure, but used to predict glaucoma
Released in PGS Catalog: March 27, 2020
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Score Details

Score Construction
Development Method
Name Genome-wide significant variants
Parameters NR
Original Genome Build hg19
Number of Variants 103
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000061
Citation (link to publication) MacGregor S et al. Nat Genet (2018)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
157,391 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: GCST006394
Europe PMC: 30054594
133,492 individuals European IGGC, UKB
GWAS Catalog: GCST004075
Europe PMC: 28073927
23,899 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
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM000403 PSS000231|
European Ancestry|
4,672 individuals
PGP000061 |
MacGregor S et al. Nat Genet (2018)
Reported Trait: Advanced glaucoma AUROC: 0.65 [0.63, 0.66] sex, first 4 genetic PCs

Evaluated Samples

PGS Sample Set ID
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
PSS000231 Advanced primary open-angle glaucoma
  • 1,734 cases
  • , 2,938 controls
European ANZRAG Samples come from Phase 1 and Phase 2 of ANZRAG.