PGS Publication: PGP000115

Publication Information (EuropePMC)
Title Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.
PubMed ID 31436842(Europe PMC)
doi 10.1001/jamaophthalmol.2019.3109
Publication Date Aug. 22, 2019
Journal JAMA Ophthalmol
Author(s) Fan BJ, Bailey JC, Igo RP, Kang JH, Boumenna T, Brilliant MH, Budenz DL, Fingert JH, Gaasterland T, Gaasterland D, Hauser MA, Kraft P, Lee RK, Lichter PR, Liu Y, Moroi SE, Myers JS, Pericak-Vance MA, Realini A, Rhee DJ, Richards JE, Ritch R, Schuman JS, Scott WK, Singh K, Sit AJ, Vollrath D, Weinreb RN, Wollstein G, Zack DJ, Haines JL, Pasquale LR, Wiggs JL.
Released in PGS Catalog: Dec. 8, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000350 GRS12_POAG PGP000115 Fan BJ et al. JAMA Ophthalmol (2019) Primary open-angle glaucoma open-angle glaucoma 12 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000350/ScoringFiles/PGS000350.txt.gz

PGS 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)
Evaluated Score 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
PPM000998 PGS000350 (GRS12_POAG) PSS000513 PGP000115
Fan BJ et al. (2019)
Reported Trait: Primary open-angle glaucoma age at diagnosis β: -0.36 [-0.56, -0.16] sex, DNA source, population structure
PPM000997 PGS000350 (GRS12_POAG) PSS000512 PGP000115
Fan BJ et al. (2019)
Reported Trait: Primary open-angle glaucoma OR: 1.24 [1.21, 1.27] sex, DNA source, population structure

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
PSS000512 A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) reproducible glaucomatous visual field loss on reliable tests; or (3) an eye with cup-disc ratio of at least 0.7 with 1 visual field showing glaucomatous loss; and (4) no identifiable secondary cause for optic nerve disease. 
[
  • 3,108 cases
  • , 3,430 controls
]
,
43.38 % Male samples
European GLAUGEN, NEIGHBOR
PSS000513 A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) reproducible glaucomatous visual field loss on reliable tests; or (3) an eye with cup-disc ratio of at least 0.7 with 1 visual field showing glaucomatous loss; and (4) no identifiable secondary cause for optic nerve disease. 
[
  • 2,947 cases
  • , 0 controls
]
European GLAUGEN, NEIGHBOR