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 pre... ssure and optic nerve damage. [NCIT: P378]Show more
Trait category
Other disease
Synonyms 10 synonyms
  • POAG
  • glaucoma (primary open-angle)
  • glaucoma simplex
  • glaucoma, open-angle
  • glaucoma, primary open angle
  • open angle glaucoma
  • open-angle glaucoma
  • pigmentary glaucoma
  • primary open angle glaucoma
  • wide-angle glaucoma
Mapped terms 21 mapped terms
  • DOID:1067
  • ICD9:365.1
  • ICD9:365.10
  • ICD9:365.13
  • MEDGEN:6611
  • MESH:D005902
  • MONDO:0005338
  • MeSH:D005902
  • MedDRA:10030856
  • MedDRA:10030857
  • 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)

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
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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 glaucomaopen-angle glaucoma12
G
-
E
https://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 glaucomaopen-angle glaucoma23
G
-
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000764/ScoringFiles/PGS000764.txt.gz
PGS001797
(1kgeur_gbmi_POAG_pst_eff_a1_b0.5_phiauto)
PGP000262 |
Wang Y et al. Cell Genom (2023)
Primary open-angle glaucomaopen-angle glaucoma885,417
G
-
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001797/ScoringFiles/PGS001797.txt.gz
PGS002741
(GRS127_POAG_META)
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Primary open-angle glaucomaopen-angle glaucoma127
G
-
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002741/ScoringFiles/PGS002741.txt.gz
PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Primary open-angle glaucomaopen-angle glaucoma110,772
G
-
E
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004944/ScoringFiles/PGS004944.txt.gz
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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.

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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
PPM000997PGS000350
(GRS12_POAG)
PSS000512|
European Ancestry|
6,538 individuals
PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
Reported Trait: Primary open-angle glaucomaOR: 1.24 [1.21, 1.27]sex, DNA source, population structure
PPM000998PGS000350
(GRS12_POAG)
PSS000513|
European Ancestry|
2,947 individuals
PGP000115 |
Fan BJ et al. JAMA Ophthalmol (2019)
Reported Trait: Primary open-angle glaucoma age at diagnosisβ: -0.36 [-0.56, -0.16]sex, DNA source, population structure
PPM001956PGS000764
(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 glaucomaOdds Ratio (OR per 1 point increase): 1.08 [1.06, 1.11]Age, ancestry (q0), gender
PPM001957PGS000764
(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 glaucomaOdds Ratio (OR per 1 point increase): 1.08 [1.05, 1.12]Age, ancestry (q0), gender
PPM009313PGS001797
(1kgeur_gbmi_POAG_pst_eff_a1_b0.5_phiauto)
PSS007695|
European Ancestry|
7,128 individuals
PGP000262 |
Wang Y et al. Cell Genom (2023)
Reported Trait: Primary open-angle glaucomaAUROC: 0.749Nagelkerke's R2 (covariates regressed out): 0.03148sex,age, 20PCs
PPM014899PGS002741
(GRS127_POAG_META)
PSS009920|
African Ancestry|
2,448 individuals
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Reported Trait: Primary open-angle glaucomaAUROC: 0.69 [0.67, 0.7]Age, sex, and 10 sample-specific PCs
PPM014900PGS002741
(GRS127_POAG_META)
PSS009921|
European Ancestry|
3,382 individuals
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Reported Trait: Primary open-angle glaucomaAUROC: 0.67 [0.66, 0.68]Age, sex, and 10 sample-specific PCs
PPM014901PGS002741
(GRS127_POAG_META)
PSS009921|
European Ancestry|
3,382 individuals
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Reported Trait: Invasive glaucoma surgeryβ: 0.265 (0.068)Age, sex, and 10 sample-specific PCs
PPM014902PGS002741
(GRS127_POAG_META)
PSS009921|
European Ancestry|
3,382 individuals
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Reported Trait: Invasive glaucoma surgery (glaucoma drainage implants)β: 0.338 (0.079)Age, sex, and 10 sample-specific PCs
PPM014903PGS002741
(GRS127_POAG_META)
PSS009921|
European Ancestry|
3,382 individuals
PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
Reported Trait: Invasive glaucoma surgery (trabeculectomy or glaucoma drainage implants)β: 0.274 (0.067)Age, sex, and 10 sample-specific PCs
PPM021744PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PSS011776|
Multi-ancestry (including European)|
407,667 individuals
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Reported Trait: Primary open-angle glaucoma (self-reported)OR: 1.74 [1.71, 1.77]AUROC: 0.748Age, age2, sex, ancestry
PPM021745PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PSS011777|
Multi-ancestry (including European)|
44,411 individuals
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Reported Trait: Primary open-angle glaucomaOR: 1.46 [1.36, 1.58]AUROC: 0.683Age, age2, sex, ancestry
PPM021746PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PSS011778|
Multi-ancestry (including European)|
37,818 individuals
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Reported Trait: Retinal nerve fiber layer thicknessβ: -0.14 [-0.19, -0.1]Age, age2, sex, ancestry
PPM021747PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PSS011778|
Multi-ancestry (including European)|
37,818 individuals
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Reported Trait: Ganglion cell layer thicknessβ: -0.05 [-0.08, -0.02]Age, age2, sex, ancestry
PPM021748PGS004944
(lassosum_weights_POAG_CROSS_EUR)
PSS011778|
Multi-ancestry (including European)|
37,818 individuals
PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
Reported Trait: Inner plexiform layer thicknessβ: -0.06 [-0.09, -0.04]Age, age2, sex, ancestry
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Evaluated Samples

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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
PSS000512A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) r... eproducible 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. Show more
[
  • 3,108 cases
  • , 3,430 controls
]
,
43.38 % Male samples
EuropeanGLAUGEN, NEIGHBOR
PSS000513A harmonized definition of POAG used the following criteria: (1) open anterior segment angles; (2) r... eproducible 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. Show more
[
  • 2,947 cases
  • , 0 controls
]
EuropeanGLAUGEN, NEIGHBOR
PSS000977Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocor... neal 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.Show more
[
  • 1,783 cases
  • , 2,047 controls
]
,
36.4 % Male samples
African American or Afro-Caribbean, African unspecifiedPOAAGG
PSS000978Cases, classified by fellowship-trained glaucoma specialists were defined as having an open iridocor... neal 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.Show more
[
  • 755 cases
  • , 1,380 controls
]
African American or Afro-Caribbean, African unspecifiedPOAAGG
PSS007695
[
  • 224 cases
  • , 6,903 controls
]
EuropeanCanPath
PSS0099202,448 individualsAfrican unspecifiedMVP
PSS0099213,382 individualsEuropeanMVP
PSS0117767,738 individualsAfrican unspecifiedUKB
PSS011776784 individualsHispanic or Latin AmericanUKB
PSS0117769,099 individualsEast Asian, South AsianUKB
PSS011776390,046 individualsEuropeanUKB
PSS01177744,411 individualsAfrican unspecified, Hispanic or Latin American, East Asian, South Asian, EuropeanUKB
PSS01177837,818 individualsAfrican unspecified, Hispanic or Latin American, East Asian, South Asian, EuropeanUKB
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