Trait: glaucoma

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000516
Description Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. [NCIT: P378]
Trait category
Other disease
Synonyms 18 synonyms
  • GLAUCOMA NEC
  • Glaucoma (disorder)
  • Glaucoma NOS
  • Glaucoma NOS (disorder)
  • Glaucoma associated with other ocular disorders
  • Glaucoma associated with other ocular disorders (disorder)
  • Glaucoma associated with other ocular disorders NOS
  • Glaucoma associated with other ocular disorders NOS (disorder)
  • Glaucoma, NOS
  • Glaucomas
  • Other specified forms of glaucoma
  • Other specified forms of glaucoma (disorder)
  • Other specified glaucoma
  • Other specified glaucoma NOS
  • Other specified glaucoma NOS (disorder)
  • Unspecified glaucoma
  • glaucoma
  • glaucoma (disease)
Mapped term(s) 18 mapped terms
  • COHD:437541
  • DOID:1686
  • HP:0000501
  • ICD10:H40
  • ICD10:H40-H42
  • ICD10:H40.9
  • ICD10:H40.H42
  • ICD9:365
  • ICD9:365.89
  • ICD9:365.9
  • MESH:D005901
  • MONDO:0005041
  • MeSH:D005901
  • NCIT:C26782
  • NCIt:C26782
  • SCTID:23986001
  • SNOMEDCT:23986001
  • UMLS:C0017601
Child trait(s) open-angle glaucoma

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
Note: This table shows all PGS for "glaucoma" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000137
(MTAG_glaucoma)
PGP000066 |
Craig JE et al. Nat Genet (2020)
Glaucoma glaucoma 2,673
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000137/ScoringFiles/PGS000137.txt.gz
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
PGS000764
(PRS23_POAG)
PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
Primary-open angle glaucoma open-angle glaucoma 23
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000764/ScoringFiles/PGS000764.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
PPM000422 PGS000137
(MTAG_glaucoma)
PSS000245|
European Ancestry|
1,795 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG) AUROC: 0.8 age, sex, self-reported family history
PPM000426 PGS000137
(MTAG_glaucoma)
PSS000249|
South Asian Ancestry|
7,033 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma AUROC: 0.76 [0.73, 0.79] age, sex Model 3
PPM000424 PGS000137
(MTAG_glaucoma)
PSS000248|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma AUROC: 0.75 [0.73, 0.76] age, sex Model 3
PPM000429 PGS000137
(MTAG_glaucoma)
PSS000247|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG) AUROC: 0.76 [0.72, 0.81] age, sex Model 3
PPM000425 PGS000137
(MTAG_glaucoma)
PSS000249|
South Asian Ancestry|
7,033 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma AUROC: 0.64 [0.59, 0.68] Model 1
PPM000423 PGS000137
(MTAG_glaucoma)
PSS000248|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma AUROC: 0.66 [0.64, 0.68] Model 1
PPM000428 PGS000137
(MTAG_glaucoma)
PSS000247|
European Ancestry|
3,112 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG) AUROC: 0.67 [0.63, 0.72] Model 1
PPM000427 PGS000137
(MTAG_glaucoma)
PSS000246|
European Ancestry|
965 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Glaucoma in MYOC p.Gln368Ter carriers HR (Hazard Ratio; highest vs. lowest tertile of PRS): 3.4 [1.7, 6.6] sex, PCs 1-6
PPM000421 PGS000137
(MTAG_glaucoma)
PSS000245|
European Ancestry|
1,795 individuals
PGP000066 |
Craig JE et al. Nat Genet (2020)
Reported Trait: Primary open-angle glaucoma (POAG) AUROC: 0.71 [0.66, 0.77]
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
PPM001956 PGS000764
(PRS23_POAG)
PSS000977|
Multi-ancestry (excluding European)|
3,830 individuals
PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
Reported Trait: Primary-open angle glaucoma Odds Ratio (OR per 1 point increase): 1.08 [1.06, 1.11] Age, ancestry (q0), gender
PPM001957 PGS000764
(PRS23_POAG)
PSS000978|
Multi-ancestry (excluding European)|
2,135 individuals
PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
Reported Trait: Primary-open angle glaucoma Odds Ratio (OR per 1 point increase): 1.08 [1.05, 1.12] Age, ancestry (q0), gender

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
PSS000245
[
  • 74 cases
  • , 1,721 controls
]
,
43.0 % Male samples
Mean = 64.02 years
Sd = 8.24 years
European BMES
PSS000246 MYOC p.Gln368Ter (rs74315329) carriers using imputation. Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness).
[
  • 72 cases
  • , 893 controls
]
European UKB
PSS000247 ICD-10 defined Primary open-angle glaucoma (POAG)
[
  • 112 cases
  • , 3,000 controls
]
European UKB
PSS000248 Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness).
[
  • 112 cases
  • , 3,000 controls
]
European UKB
PSS000249 Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness).
[
  • 192 cases
  • , 6,841 controls
]
South Asian UKB
PSS000977 Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocorneal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions.
[
  • 1,783 cases
  • , 2,047 controls
]
,
36.4 % Male samples
African American or Afro-Caribbean, African unspecified POAAGG
PSS000978 Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocorneal angle and characteristic optic nerve defects with corresponding visual field loss, whereas controls, classified by fellowship-trained glaucoma specialists exhibited a lack of confounding ocular conditions.
[
  • 755 cases
  • , 1,380 controls
]
African American or Afro-Caribbean, African unspecified POAAGG