Polygenic Score (PGS) ID: PGS000764

Predicted Trait
Reported Trait Primary-open angle glaucoma
Mapped Trait(s) open-angle glaucoma (EFO_0004190)
Released in PGS Catalog: April 28, 2021
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Score Details

Score Construction
PGS Name PRS23_POAG
Development Method
Name SNPs associated with primary-open angle glaucoma were selected from the GWAS Catalog
Parameters Trait search term = primary open angle glaucoma, ancestry = African and/or European
Variants
Original Genome Build NR
Number of Variants 23
Effect Weight Type log(OR)
PGS Source
PGS Catalog Publication (PGP) ID PGP000169
Citation (link to publication) Cole BS et al. Invest Ophthalmol Vis Sci (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
Multi-ancestry (including European): 100%
  • African
  • European
PGS Evaluation
Multi-ancestry (excluding European): 100%
  • African
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 24316577
 NR African American or Afro-Caribbean, African unspecified, 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
PPM001956 PSS000977|
Multi-ancestry (excluding European)|
3,830 individuals
 PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
 Reported Trait: Primary-open angle glaucoma — — Odds Ratio (OR per 1 point increase): 1.08 [1.06, 1.11] Age, ancestry (q0), gender —
PPM001957 PSS000978|
Multi-ancestry (excluding European)|
2,135 individuals
 PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
 Reported Trait: Primary-open angle glaucoma — — Odds Ratio (OR per 1 point increase): 1.08 [1.05, 1.12] Age, ancestry (q0), gender —

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
PSS000977 Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocorneal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions. —
[
  • 1,783 cases
  • , 2,047 controls
]
,
36.4 % Male samples
 — African American or Afro-Caribbean, African unspecified — POAAGG —
PSS000978 Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocorneal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions. —
[
  • 755 cases
  • , 1,380 controls
]
 — African American or Afro-Caribbean, African unspecified — POAAGG —