Publication Information (EuropePMC) | |
Title | Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma. |
PubMed ID | 36355370(Europe PMC) |
doi | 10.1001/jamaophthalmol.2022.4688 |
Publication Date | Nov. 10, 2022 |
Journal | JAMA Ophthalmol |
Author(s) | Siggs OM, Qassim A, Han X, Marshall HN, Mullany S, He W, Souzeau E, Galanopoulos A, Agar A, Landers J, Casson RJ, Hewitt AW, Healey PR, Graham SL, MacGregor S, Craig JE. |
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) |
---|---|---|---|---|---|---|
PGS000137 (MTAG_glaucoma) |
PGP000066 | Craig JE et al. Nat Genet (2020) |
Glaucoma | glaucoma | 2,673 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000137/ScoringFiles/PGS000137.txt.gz |
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 |
---|---|---|---|---|---|---|---|---|---|
PPM016165 | PGS000137 (MTAG_glaucoma) |
PSS010053| European Ancestry| 1,103 individuals |
PGP000403 | Siggs OM et al. JAMA Ophthalmol (2022) |Ext. |
Reported Trait: Visual field worsening | — | — | Hazard ratio (HR, top 5% vs bottom 95%): 1.5 [1.13, 1.97] Hazard ratio (HR, bottom 20% vs intermediate risk): 0.52 [0.28, 0.96] |
— | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS010053 | — | — | 1,103 individuals | — | European | — | PROGRESSA | Ancestrally matched normative population cohort (n = 17 642) was used for PRS reference |