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

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Score Details

Score Construction
PGS Name	IOP_AS
Variants
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 (PPM ID)	PGS Sample Set ID (PSS 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 (PSS 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	—	4,672 individuals [ 1,734 cases , 2,938 controls ]	—	European	—	ANZRAG	Samples come from Phase 1 and Phase 2 of ANZRAG.