Polygenic Score (PGS) ID: PGS004944

Predicted Trait
Reported Trait Primary open-angle glaucoma
Mapped Trait(s) open-angle glaucoma (EFO_0004190)
Released in PGS Catalog: Aug. 29, 2024
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Score Details

Score Construction
PGS Name lassosum_weights_POAG_CROSS_EUR
Development Method
Name Lassosum
Parameters r2 < 0.1, MAF > 1%
Variants
Original Genome Build GRCh37
Number of Variants 110,772
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000670
Citation (link to publication) Sekimitsu S et al. JAMA Ophthalmol (2023)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 86.3%
East Asian: 12.1%
African: 1.6%
383,500 individuals (100%)
PGS Evaluation
Multi-ancestry (including European): 100%
  • African
  • Hispanic or Latin American
  • East Asian
  • South Asian
  • European
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST90011770
Europe PMC: 33627673
 330,905 individuals European NR
GWAS Catalog: GCST90011770
Europe PMC: 33627673
 46,523 individuals East Asian NR
GWAS Catalog: GCST90011770
Europe PMC: 33627673
 6,072 individuals Sub-Saharan African NR

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
PPM021750 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 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 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 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 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 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 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 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
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 —