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
Development Method
Name Genome-wide significant variants
Parameters Lead SNPs from loci previously associated with primary open-angle glaucoma
Variants
Original Genome Build NR
Number of Variants 12
Effect Weight Type Unweighted
PGS Source
PGS Catalog Publication (PGP) ID PGP000115
Citation (link to publication) Fan BJ et al. JAMA Ophthalmol (2019)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 93.7%
Multi-ancestry (excluding European): 6.3%
  • South Asian
  • Additional Asian Ancestries
  • East Asian
122,995 individuals (100%)
PGS Evaluation
European: 100%
2 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST001062
Europe PMC: 21532571
 4,446 individuals European ANZRAG, BATS, GIST, QIMR
GWAS Catalog: GCST002580
Europe PMC: 25173106
 27,558 individuals European 15 cohorts
  • ALIENOR
  • ,BATS
  • ,BES
  • ,BMES
  • ,ERF
  • ,FES
  • ,GHS
  • ,ORCADES
  • ,REHS
  • ,RS
  • ,SCES
  • ,SIMES
  • ,SINDI
  • ,TEST
  • ,TwinsUK
GWAS Catalog: GCST002580
Europe PMC: 25173106
 7,738 individuals South Asian, South East Asian, East Asian 15 cohorts
  • ALIENOR
  • ,BATS
  • ,BES
  • ,BMES
  • ,ERF
  • ,FES
  • ,GHS
  • ,ORCADES
  • ,REHS
  • ,RS
  • ,SCES
  • ,SIMES
  • ,SINDI
  • ,TEST
  • ,TwinsUK
GWAS Catalog: GCST002582
Europe PMC: 25173105
 3,147 individuals European ANZRAG
GWAS Catalog: GCST003342
Europe PMC: 26752265
 37,333 individuals European 8 cohorts
  • HPFS
  • ,Iowa
  • ,MEEI
  • ,Marshfield
  • ,NEIGHBOR
  • ,NHS
  • ,OHTS
  • ,WGHS
GWAS Catalog: GCST001493
Europe PMC: 22570617
 6,633 individuals European GEP, HPFS, NEIGHBOR, NHS
GWAS Catalog: GCST000793
Europe PMC: 20835238
 36,140 individuals European RES, deCODE

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) 		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 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 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 —

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 —