Publication Information (EuropePMC) | |
Title | Glaucoma genetic risk scores in the Million Veteran Program. |
PubMed ID | 35718050(Europe PMC) |
doi | 10.1016/j.ophtha.2022.06.012 |
Publication Date | June 16, 2022 |
Journal | Ophthalmology |
Author(s) | Waksmunski AR, Kinzy TG, Cruz LA, Nealon CL, Halladay CW, Simpson P, Canania RL, Anthony SA, Roncone DP, Rogers LS, Leber JN, Dougherty JM, Greenberg PB, Sullivan JM, Wu WC, Iyengar SK, Crawford DC, Peachey NS, Cooke Bailey JN, VA Million Veteran Program. |
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) |
---|---|---|---|---|---|---|
PGS002741 (GRS127_POAG_META) |
PGP000352 | Waksmunski AR et al. Ophthalmology (2022) |
Primary open-angle glaucoma | open-angle glaucoma | 127 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002741/ScoringFiles/PGS002741.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 |
---|---|---|---|---|---|---|---|---|---|
PPM014899 | PGS002741 (GRS127_POAG_META) |
PSS009920| African Ancestry| 2,448 individuals |
PGP000352 | Waksmunski AR et al. Ophthalmology (2022) |
Reported Trait: Primary open-angle glaucoma | — | AUROC: 0.69 [0.67, 0.7] | — | Age, sex, and 10 sample-specific PCs | — |
PPM014900 | PGS002741 (GRS127_POAG_META) |
PSS009921| European Ancestry| 3,382 individuals |
PGP000352 | Waksmunski AR et al. Ophthalmology (2022) |
Reported Trait: Primary open-angle glaucoma | — | AUROC: 0.67 [0.66, 0.68] | — | Age, sex, and 10 sample-specific PCs | — |
PPM014901 | PGS002741 (GRS127_POAG_META) |
PSS009921| European Ancestry| 3,382 individuals |
PGP000352 | Waksmunski AR et al. Ophthalmology (2022) |
Reported Trait: Invasive glaucoma surgery | β: 0.265 (0.068) | — | — | Age, sex, and 10 sample-specific PCs | — |
PPM014902 | PGS002741 (GRS127_POAG_META) |
PSS009921| European Ancestry| 3,382 individuals |
PGP000352 | Waksmunski AR et al. Ophthalmology (2022) |
Reported Trait: Invasive glaucoma surgery (glaucoma drainage implants) | β: 0.338 (0.079) | — | — | Age, sex, and 10 sample-specific PCs | — |
PPM014903 | PGS002741 (GRS127_POAG_META) |
PSS009921| European Ancestry| 3,382 individuals |
PGP000352 | Waksmunski AR et al. Ophthalmology (2022) |
Reported Trait: Invasive glaucoma surgery (trabeculectomy or glaucoma drainage implants) | β: 0.274 (0.067) | — | — | Age, sex, and 10 sample-specific PCs | — |
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 |
---|---|---|---|---|---|---|---|---|
PSS009920 | — | — | 2,448 individuals | — | African unspecified | — | MVP | — |
PSS009921 | — | — | 3,382 individuals | — | European | — | MVP | — |