PGS Publication: PGP000225

Publication Information (EuropePMC)
Title An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity.
PubMed ID 32081492(Europe PMC)
doi 10.1016/j.ophtha.2019.12.025
Publication Date Jan. 7, 2020
Journal Ophthalmology
Author(s) Qassim A, Souzeau E, Siggs OM, Hassall MM, Han X, Griffiths HL, Frost NA, Vallabh NA, Kirwan JF, Menon G, Cree AJ, Galanopoulos A, Agar A, Healey PR, Graham SL, Landers J, Casson RJ, Gharahkhani P, Willoughby CE, Hewitt AW, Lotery AJ, MacGregor S, Craig JE.
Released in PGS Catalog: Aug. 26, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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 Scoring File (FTP Link)
PGS000879
(PRS146_IOP)
PGP000225 |
Qassim A et al. Ophthalmology (2020)
Intraocular pressure intraocular pressure measurement 146
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000879/ScoringFiles/PGS000879.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
PPM002517 PGS000879
(PRS146_IOP)
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 PGS000879
(PRS146_IOP)
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 PGS000879
(PRS146_IOP)
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 PGS000879
(PRS146_IOP)
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