Predicted Trait | |
Reported Trait | Intraocular pressure |
Mapped Trait(s) | intraocular pressure measurement (EFO_0004695) |
Additional Trait Information | SNPs are associated with interocular pressure, but used to predict glaucoma |
Score Construction | |
PGS Name | IOP_AS |
Variants | |
Original Genome Build | hg19 |
Number of Variants | 103 |
Development Method | |
Name | GWAS-sgnificant SNPs |
Parameters | NR |
PGS Source | |
PGS Catalog Publication (PGP) ID | PGP000061 |
Citation (link to publication) | MacGregor S et al. Nat Genet (2018) |
Study Identifiers | Sample Numbers | Sample Ancestry |
---|---|---|
GWAS Catalog: GCST006394 EuropePMC: 30054594 |
133,492 individuals | European |
GWAS Catalog: GCST004075 EuropePMC: 28073927 |
23,899 individuals | European |
PGS Performance Metric ID (PPM ID) |
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 | PSS000231 | PGP000061 MacGregor S et al. (2018) | Reported Trait: Advanced glaucoma | — | AUROC: 0.65 [0.63, 0.66] | — | sex, first 4 genetic PCs | — |
PGS Sample Set ID (PSS ID) |
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 | — | [
|
— | European | — | ANZRAG | Samples come from Phase 1 and Phase 2 of ANZRAG. |