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)

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

PGS Developed 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)
PGS000350
(GRS12_POAG)
 PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
 Primary open-angle glaucoma open-angle glaucoma 12
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000350/ScoringFiles/PGS000350.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
PPM000998 PGS000350
(GRS12_POAG)
 PSS000513|
European Ancestry|
2,947 individuals
 PGP000115 |
Fan BJ et al. JAMA Ophthalmol (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|
European Ancestry|
6,538 individuals
 PGP000115 |
Fan BJ et al. JAMA Ophthalmol (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) 		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 —