| Predicted Trait | |
| Reported Trait | Glaucoma (time-to-event) |
| Mapped Trait(s) | glaucoma (MONDO_0005041) |
| Additional Trait Information | https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC882 |
| Score Construction | |
| PGS Name | GBE_HC882 |
| Development Method | |
| Name | snpnet |
| Parameters | NR |
| Variants | |
| Original Genome Build | GRCh37 |
| Number of Variants | 2,066 |
| Effect Weight Type | NR |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000244 |
| Citation (link to publication) | Tanigawa Y et al. PLoS Genet (2022) |
| Ancestry Distribution | |
| Score Development/Training | European: 100% 269,704 individuals (100%) |
| PGS Evaluation | European: 40% African: 20% East Asian: 20% South Asian: 20% 5 Sample Sets |
| Study Identifiers | Sample Numbers | Sample Ancestry | Cohort(s) | Phenotype Definitions & Methods | Age of Study Participants | Participant Follow-up Time | Additional Ancestry Description | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| — | [
|
European | UKB | — | — | — | white British ancestry | — |
|
PGS Performance Metric ID (PPM) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM009107 | PSS004697| African Ancestry| 6,497 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE glaucoma | — | AUROC: 0.72181 [0.69233, 0.75129] | R²: 0.0918 Incremental AUROC (full-covars): -0.00164 PGS R2 (no covariates): 0.00184 PGS AUROC (no covariates): 0.53284 [0.50004, 0.56563] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009108 | PSS004698| East Asian Ancestry| 1,704 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE glaucoma | — | AUROC: 0.70826 [0.61816, 0.79836] | R²: 0.06483 Incremental AUROC (full-covars): 0.01999 PGS R2 (no covariates): 0.00405 PGS AUROC (no covariates): 0.54496 [0.43191, 0.65802] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009109 | PSS004699| European Ancestry| 24,905 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE glaucoma | — | AUROC: 0.72679 [0.7079, 0.74569] | R²: 0.07732 Incremental AUROC (full-covars): 0.0269 PGS R2 (no covariates): 0.01761 PGS AUROC (no covariates): 0.60838 [0.58579, 0.63096] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009110 | PSS004700| South Asian Ancestry| 7,831 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE glaucoma | — | AUROC: 0.73399 [0.70517, 0.76282] | R²: 0.08727 Incremental AUROC (full-covars): 0.00993 PGS R2 (no covariates): 0.00928 PGS AUROC (no covariates): 0.57629 [0.54141, 0.61116] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
| PPM009111 | PSS004701| European Ancestry| 67,425 individuals |
PGP000244 | Tanigawa Y et al. PLoS Genet (2022) |
Reported Trait: TTE glaucoma | — | AUROC: 0.70422 [0.69334, 0.7151] | R²: 0.06469 Incremental AUROC (full-covars): 0.0364 PGS R2 (no covariates): 0.02201 PGS AUROC (no covariates): 0.61994 [0.60732, 0.63256] |
age, sex, UKB array type, Genotype PCs | Full Model & PGS R2 is estimated using Nagelkerke's method |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS004700 | — | — | [
|
— | South Asian | — | UKB | — |
| PSS004701 | — | — | [
|
— | European | white British ancestry | UKB | Testing cohort (heldout set) |
| PSS004697 | — | — | [
|
— | African unspecified | — | UKB | — |
| PSS004698 | — | — | [
|
— | East Asian | — | UKB | — |
| PSS004699 | — | — | [
|
— | European | non-white British ancestry | UKB | — |