PGS Publication: PGP000061

Publication Information (EuropePMC)
Title Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.
PubMed ID 30054594(Europe PMC)
doi 10.1038/s41588-018-0176-y
Publication Date July 27, 2018
Journal Nat Genet
Author(s) MacGregor S, Ong JS, An J, Han X, Zhou T, Siggs OM, Law MH, Souzeau E, Sharma S, Lynn DJ, Beesley J, Sheldrick B, Mills RA, Landers J, Ruddle JB, Graham SL, Healey PR, White AJR, Casson RJ, Best S, Grigg JR, Goldberg I, Powell JE, Whiteman DC, Radford-Smith GL, Martin NG, Montgomery GW, Burdon KP, Mackey DA, Gharahkhani P, Craig JE, Hewitt AW.
Released in PGS Catalog: March 27, 2020

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)
PGS000124
(IOP_AS)
 PGP000061 |
MacGregor S et al. Nat Genet (2018)
 Intraocular pressure intraocular pressure measurement 103
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000124/ScoringFiles/PGS000124.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
PPM000403 PGS000124
(IOP_AS)
 PSS000231|
European Ancestry|
4,672 individuals
 PGP000061 |
MacGregor S et al. Nat Genet (2018)
 Reported Trait: Advanced glaucoma — AUROC: 0.65 [0.63, 0.66] — sex, first 4 genetic PCs —

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
PSS000231 Advanced primary open-angle glaucoma —
[
  • 1,734 cases
  • , 2,938 controls
]
 — European — ANZRAG Samples come from Phase 1 and Phase 2 of ANZRAG.