PGS Publication: PGP000403

Publication Information (EuropePMC)
Title Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.
PubMed ID 36355370(Europe PMC)
doi 10.1001/jamaophthalmol.2022.4688
Publication Date Nov. 10, 2022
Journal JAMA Ophthalmol
Author(s) Siggs OM, Qassim A, Han X, Marshall HN, Mullany S, He W, Souzeau E, Galanopoulos A, Agar A, Landers J, Casson RJ, Hewitt AW, Healey PR, Graham SL, MacGregor S, Craig JE.
Released in PGS Catalog: Dec. 20, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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
PPM016165 PGS000137
(MTAG_glaucoma)
PSS010053|
European Ancestry|
1,103 individuals
PGP000403 |
Siggs OM et al. JAMA Ophthalmol (2022)
|Ext.
Reported Trait: Visual field worsening Hazard ratio (HR, top 5% vs bottom 95%): 1.5 [1.13, 1.97]
Hazard ratio (HR, bottom 20% vs intermediate risk): 0.52 [0.28, 0.96]

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
PSS010053 1,103 individuals European PROGRESSA Ancestrally matched normative population cohort (n = 17 642) was used for PRS reference