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
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Synonyms |
10 synonyms
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Mapped terms |
21 mapped terms
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Polygenic Score ID & Name
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PGS Publication ID (PGP)
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Reported Trait
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Mapped Trait(s) (Ontology)
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Number of Variants
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Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link)
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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 | 110,772 | - | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004944/ScoringFiles/PGS004944.txt.gz |
PGS Performance Metric ID (PPM) |
Evaluated Score
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PGS Sample Set ID (PSS) |
Performance Source
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Trait
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PGS Effect Sizes (per SD change) |
Classification Metrics
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Other Metrics
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Covariates Included in the Model
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PGS Performance: Other Relevant Information |
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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 | — |
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 | — |
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 | — |
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 | — |
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods
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Participant Follow-up Time
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Sample Numbers
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Age of Study Participants
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Sample Ancestry
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Additional Ancestry Description
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Cohort(s)
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Additional Sample/Cohort Information
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PSS000512 | A 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 | — | [ ,
43.38 % Male samples | — | European | — | GLAUGEN, NEIGHBOR | — |
PSS000513 | A 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 | — | [
| — | European | — | GLAUGEN, NEIGHBOR | — |
PSS000977 | Cases, 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 | — | [ ,
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 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 | — | [
| — | African American or Afro-Caribbean, African unspecified | — | POAAGG | — |
PSS007695 | — | — | [
| — | European | — | CanPath | — |
PSS009920 | — | — | 2,448 individuals | — | African unspecified | — | MVP | — |
PSS009921 | — | — | 3,382 individuals | — | European | — | MVP | — |
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 | — |