Polygenic Score (PGS) ID: PGS000879

Predicted Trait
Reported Trait Intraocular pressure
Mapped Trait(s) intraocular pressure measurement (EFO_0004695)
Released in PGS Catalog: Aug. 26, 2021
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Score Details

Score Construction
PGS Name PRS146_IOP
Development Method
Name LD-clumped GWAS-significant SNPs
Parameters P<5e-8, r^2 = 0.1
Variants
Original Genome Build hg19
Number of Variants 146
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000225
Citation (link to publication) Qassim A et al. Ophthalmology (2020)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
133,492 individuals (100%)
PGS Evaluation
European: 100%
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
GWAS Catalog: GCST006394
Europe PMC: 30054594
133,492 individuals European IGGC, UKB

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
PPM002517 PSS001136|
European Ancestry|
2,154 individuals
PGP000225 |
Qassim A et al. Ophthalmology (2020)
Reported Trait: High-tension glaucoma Odds Ratio (OR, top 20% vs bottom 20%): 1.9 [1.3, 2.8]
PPM002518 PSS001138|
European Ancestry|
2,154 individuals
PGP000225 |
Qassim A et al. Ophthalmology (2020)
Reported Trait: Incisional surgery for the management of glaucoma Odds Ratio (OR, top 20% vs bottom 20%): 1.5 [1.1, 2.0]
PPM002519 PSS001138|
European Ancestry|
2,154 individuals
PGP000225 |
Qassim A et al. Ophthalmology (2020)
Reported Trait: Incisional surgery for the management of glaucoma Odds Ratio (OR, top 20% vs intermediate 60%): 1.3 [1.0, 1.6]
PPM002520 PSS001137|
European Ancestry|
2,154 individuals
PGP000225 |
Qassim A et al. Ophthalmology (2020)
Reported Trait: Bilateral incisional surgery for the management of glaucoma Odds Ratio (OR, top 20% vs remaining 80%): 1.4 [1.0, 1.8]

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
PSS001136 Cases included individuals with high-tension adavanced glaucoma. Advanced glaucoma was defined by a Humphrey 24-2 visual field mean deviation of less than e15 dB in the worse eye, or loss of at least 2 of the central visual field points on the pattern deviation map. High-tension glaucoma is defined by a maximum IOP of more than 21 mmHg.
[
  • 1,416 cases
  • , 738 controls
]
,
46.37 % Male samples
Mean = 77.4 years
Sd = 13.2 years
European ANZRAG
PSS001137 Cases included individuals with adavanced glaucoma who have required bilateral incisional surgeries to manage their glaucoma. Advanced glaucoma was defined by a Humphrey 24-2 visual field mean deviation of less than e15 dB in the worse eye, or loss of at least 2 of the central visual field points on the pattern deviation map. Incisional surgeries were mostly trabeculectomies. Other incisional surgeries included tube shunt surgery, deep sclerectomy and Xen Gel implants.
[
  • 424 cases
  • , 1,730 controls
]
European ANZRAG
PSS001138 Cases included individuals with adavanced glaucoma who have required incisional surgeries to manage their glaucoma. Advanced glaucoma was defined by a Humphrey 24-2 visual field mean deviation of less than e15 dB in the worse eye, or loss of at least 2 of the central visual field points on the pattern deviation map. Incisional surgeries were mostly trabeculectomies. Other incisional surgeries included tube shunt surgery, deep sclerectomy and Xen Gel implants.
[
  • 844 cases
  • , 1,310 controls
]
European ANZRAG