Trait: open-angle glaucoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0004190
Description Chronic outflow obstruction of the eye's drainage canals that can lead to increased internal eye pressure and optic nerve damage. [NCIT: P378]
Trait category
Other disease
Synonyms 7 synonyms
  • glaucoma (primary open-angle)
  • glaucoma simplex
  • glaucoma, open-angle
  • open angle glaucoma
  • open-angle glaucoma
  • pigmentary glaucoma
  • wide-angle glaucoma
Mapped term(s) 22 mapped terms
  • COHD:441284
  • DOID:1067
  • ICD10:H40.1
  • ICD10:H40.10
  • ICD10:H40.13
  • ICD9:365.1
  • ICD9:365.10
  • ICD9:365.13
  • MESH:D005902
  • MONDO:0005338
  • MSH:D005902
  • NCIT:C34641
  • OMIM:137760
  • OMIM:177700
  • OMIM:603383
  • OMIM:606657
  • OMIM:609887
  • OMIM:613100
  • SCTID:46168003
  • SCTID:84494001
  • SNOMEDCT:84494001
  • UMLS:C0017612

Associated Polygenic Score(s)

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 —