Polygenic Score (PGS) ID: PGS002741

Predicted Trait
Reported Trait Primary open-angle glaucoma
Mapped Trait(s) open-angle glaucoma (EFO_0004190)
Released in PGS Catalog: Aug. 3, 2022
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Score Details

Score Construction
PGS Name GRS127_POAG_META
Development Method
Name Genome-wide significant SNPs
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 127
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000352
Citation (link to publication) Waksmunski AR et al. Ophthalmology (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 86.3%
East Asian: 12.1%
African: 1.6%
383,500 individuals (100%)
PGS Evaluation
African: 50%
European: 50%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90011770
Europe PMC: 33627673
 330,905 individuals European NR
GWAS Catalog: GCST90011770
Europe PMC: 33627673
 46,523 individuals East Asian NR
GWAS Catalog: GCST90011770
Europe PMC: 33627673
 6,072 individuals Sub-Saharan African 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
PPM014899 PSS009920|
African Ancestry|
2,448 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.69 [0.67, 0.7] — Age, sex, and 10 sample-specific PCs —
PPM014900 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.67 [0.66, 0.68] — Age, sex, and 10 sample-specific PCs —
PPM014901 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery β: 0.265 (0.068) — — Age, sex, and 10 sample-specific PCs —
PPM014902 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery (glaucoma drainage implants) β: 0.338 (0.079) — — Age, sex, and 10 sample-specific PCs —
PPM014903 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery (trabeculectomy or glaucoma drainage implants) β: 0.274 (0.067) — — Age, sex, and 10 sample-specific 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
PSS009920 — — 2,448 individuals — African unspecified — MVP —
PSS009921 — — 3,382 individuals — European — MVP —