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: March 27, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
PGS000124 IOP_AS PGP000061
MacGregor S et al. Nat Genet (2018)
Intraocular pressure intraocular pressure measurement 103 http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000124/ScoringFiles/PGS000124.txt.gz

PGS 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 ID)
Evaluated Score PGS Sample Set ID
(PSS ID)
Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000403 PGS000124 (IOP_AS) PSS000231 PGP000061
MacGregor S et al. (2018)
Reported Trait: Advanced glaucoma AUROC: 0.65[0.63, 0.66] sex, first 4 genetic PCs

Evaluated Samples

PGS Sample Set ID
(PSS ID)
Detailed Phenotype Description 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.