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 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 20 mapped terms
  • DOID:1067
  • ICD9:365.1
  • ICD9:365.10
  • ICD9:365.13
  • MEDGEN:6611
  • MESH:D005902
  • MONDO:0005338
  • 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
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
PGS000764
(PRS23_POAG)
 PGP000169 |
Cole BS et al. Invest Ophthalmol Vis Sci (2021)
 Primary-open angle glaucoma open-angle glaucoma 23
-
 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 glaucoma open-angle glaucoma 885,417
-
 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 glaucoma open-angle glaucoma 127
-
 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 glaucoma open-angle glaucoma 144,019
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004944/ScoringFiles/PGS004944.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 —
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 —
PPM009313 PGS001797
(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 glaucoma — AUROC: 0.749 Nagelkerke's R2 (covariates regressed out): 0.03148 sex,age, 20PCs —
PPM014899 PGS002741
(GRS127_POAG_META)
 PSS009920|
African Ancestry|
2,448 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.69 [0.67, 0.7] — Age, sex, and 10 sample-specific PCs —
PPM014900 PGS002741
(GRS127_POAG_META)
 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Primary open-angle glaucoma — AUROC: 0.67 [0.66, 0.68] — Age, sex, and 10 sample-specific PCs —
PPM014901 PGS002741
(GRS127_POAG_META)
 PSS009921|
European Ancestry|
3,382 individuals
 PGP000352 |
Waksmunski AR et al. Ophthalmology (2022)
 Reported Trait: Invasive glaucoma surgery β: 0.265 (0.068) — — Age, sex, and 10 sample-specific PCs —
PPM014902 PGS002741
(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 —
PPM014903 PGS002741
(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 —
PPM021750 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Inner nuclear layer thickness β: -0.03 [-0.05, -0.01] — — Age, age2, sex, ancestry —
PPM021751 PGS004944
(lassosum_weights_POAG_CROSS_EUR)
 PSS011778|
Multi-ancestry (including European)|
37,818 individuals
 PGP000670 |
Sekimitsu S et al. JAMA Ophthalmol (2023)
 Reported Trait: Photoreceptor segment thickness β: -0.03 [-0.06, 0.0] — — Age, age2, sex, ancestry —
PPM021744 PGS004944
(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: 0.748 — Age, age2, sex, ancestry —
PPM021745 PGS004944
(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 glaucoma OR: 1.46 [1.36, 1.58] AUROC: 0.683 — Age, age2, sex, ancestry —
PPM021746 PGS004944
(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 thickness β: -0.14 [-0.19, -0.1] — — Age, age2, sex, ancestry —
PPM021747 PGS004944
(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 thickness β: -0.05 [-0.08, -0.02] — — Age, age2, sex, ancestry —
PPM021748 PGS004944
(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 thickness β: -0.06 [-0.09, -0.04] — — Age, age2, sex, ancestry —
PPM021749 PGS004944
(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 complex thickness β: -0.26 [-0.34, -0.17] — — Age, age2, sex, ancestry —

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 —
PSS009920 — — 2,448 individuals — African unspecified — MVP —
PSS009921 — — 3,382 individuals — European — MVP —
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 —
PSS011776 — — 7,738 individuals — African unspecified — UKB —
PSS011776 — — 784 individuals — Hispanic or Latin American — UKB —
PSS011776 — — 9,099 individuals — East Asian, South Asian — UKB —
PSS011776 — — 390,046 individuals — European — UKB —
PSS011777 — — 44,411 individuals — African unspecified, Hispanic or Latin American, East Asian, South Asian, European — UKB —
PSS011778 — — 37,818 individuals — African unspecified, Hispanic or Latin American, East Asian, South Asian, European — UKB —
PSS007695 — —
[
  • 224 cases
  • , 6,903 controls
]
 — European — CanPath —