PGS Publication: PGP000426

Publication Information (EuropePMC)
Title Whole-exome sequencing study identifies rare variants and genes associated with intraocular pressure and glaucoma.
PubMed ID 36450729(Europe PMC)
doi 10.1038/s41467-022-35188-3
Publication Date Nov. 30, 2022
Journal Nat Commun
Author(s) Gao XR, Chiariglione M, Arch AJ.
Released in PGS Catalog: Feb. 8, 2023

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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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)
PGS003413
(rvPRS_IOP)
 PGP000426 |
Gao XR et al. Nat Commun (2022)
 Intraocular pressure intraocular pressure measurement 25
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003413/ScoringFiles/PGS003413.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
PPM017063 PGS003413
(rvPRS_IOP)
 PSS010108|
European Ancestry|
312,825 individuals
 PGP000426 |
Gao XR et al. Nat Commun (2022)
 Reported Trait: Glaucoma OR: 1.12 — ΔAUROC (%): 0.5 age, sex —

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
PSS010108 — — 312,825 individuals — European — UKB —