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: March 27, 2020

Score Details

Score Construction
Original Genome Build hg19
Number of Variants 103
Development Method
Name GWAS-sgnificant SNPs
Parameters NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000061
Citation (link to publication) MacGregor S et al. Nat Genet (2018)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST006394
EuropePMC: 30054594
133,492 individuals European
GWAS Catalog: GCST004075
EuropePMC: 28073927
23,899 individuals European

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
PGS Sample Set ID
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000403 PSS000231 PGP000061
MacGregor S et al. (2018)
Reported Trait: Advanced glaucoma AUROC: 0.65[0.63, 0.66] sex, first 4 genetic PCs

Evaluated Samples

PGS Sample Set ID
Detailed Phenotype Description 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.