PGS Catalog - PGS000124 / Intraocular pressure (Polygenic Score)

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

Download Score FTP directory

Terms and Licenses

PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name	IOP_AS
Development Method
Name	Genome-wide significant variants
Parameters	NR
Variants
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 (PSS)	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 (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
PSS000231	Advanced primary open-angle glaucoma	—	4,672 individuals [ 1,734 cases , 2,938 controls ]	—	European	—	ANZRAG	Samples come from Phase 1 and Phase 2 of ANZRAG.