PGS Publication: PGP000688

Publication Information (EuropePMC)
Title Genetic risk of glaucoma is associated with vascular and retinal nerve fibre wedge defects.
PubMed ID 37800621(Europe PMC)
doi 10.1111/aos.15775
Publication Date Oct. 6, 2023
Journal Acta Ophthalmol
Author(s) Saks DG, Schulz A, Qassim A, Marshall H, Hewitt AW, MacGregor S, Craig JE, Graham SL.
Released in PGS Catalog: Oct. 29, 2024

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Multi-ancestry (excluding European)
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South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS000137
(MTAG_glaucoma)
 PGP000066 |
Craig JE et al. Nat Genet (2020)
 Glaucoma glaucoma 2,673
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000137/ScoringFiles/PGS000137.txt.gz

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) 		Evaluated Score 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
PPM022190 PGS000137
(MTAG_glaucoma)
 PSS011837|
Multi-ancestry (including European)|
455 individuals
 PGP000688 |
Saks DG et al. Acta Ophthalmol (2023)
|Ext.		 Reported Trait: Vascular wedge presence in individuals with glaucoma — — p: 0.007 Age, sex, optic disc haemorrhage —
PPM022191 PGS000137
(MTAG_glaucoma)
 PSS011837|
Multi-ancestry (including European)|
455 individuals
 PGP000688 |
Saks DG et al. Acta Ophthalmol (2023)
|Ext.		 Reported Trait: Retinal nerve fibre layer wedge presence in individuals with glaucoma — — p: 0.07 Age, sex, optic disc haemorrhage —

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
PSS011837 — — 429 individuals — European — PROGRESSA —
PSS011837 — — 5 individuals — Asian unspecified — PROGRESSA —
PSS011837 — — 1 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) — PROGRESSA —
PSS011837 — — 1 individuals — Hispanic or Latin American — PROGRESSA —
PSS011837 — — 19 individuals — Not reported — PROGRESSA —