PGS Publication: PGP000670

Publication Information (EuropePMC)
Title Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.
PubMed ID 37589995(Europe PMC)
doi 10.1001/jamaophthalmol.2023.3645
Publication Date Sept. 1, 2023
Journal JAMA Ophthalmol
Author(s) Sekimitsu S, Xiang D, Smith SL, Curran K, Elze T, Friedman DS, Foster PJ, Luo Y, Pasquale LR, Peto T, Segrè AV, Shweikh Y, Warwick A, Zhao Y, Wiggs JL, Zebardast N, UK Biobank Eye and Vision Consortium.
Released in PGS Catalog: Aug. 29, 2024

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

PGS Developed By This Publication

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)
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

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
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
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 —