Polygenic Score (PGS) ID: PGS000350

Predicted Trait
Reported Trait Primary open-angle glaucoma
Mapped Trait(s) open-angle glaucoma (EFO_0004190)
Released in PGS Catalog: Dec. 8, 2020
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Score Details

Score Construction
PGS Name GRS12_POAG
Variants
Original Genome Build NR
Number of Variants 12
Development Method
Name GWAS-significant variants
Parameters Lead SNPs from loci previously associated with primary open-angle glaucoma
PGS Source
PGS Catalog Publication (PGP) ID PGP000115
Citation (link to publication) Fan BJ et al. JAMA Ophthalmol (2019)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST001062
EuropePMC: 21532571
4,446 individuals European
GWAS Catalog: GCST002580
EuropePMC: 25173106
27,558 individuals European
GWAS Catalog: GCST002580
EuropePMC: 25173106
7,738 individuals South Asian, South East Asian, East Asian
GWAS Catalog: GCST002582
EuropePMC: 25173105
3,147 individuals European
GWAS Catalog: GCST003342
EuropePMC: 26752265
37,333 individuals European
GWAS Catalog: GCST001493
EuropePMC: 22570617
6,633 individuals European
GWAS Catalog: GCST000793
EuropePMC: 20835238
36,140 individuals European

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)
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 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 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