| Predicted Trait | |
| Reported Trait | Glaucoma |
| Mapped Trait(s) | glaucoma (EFO_0000516) |
| Score Construction | |
| PGS Name | MTAG_glaucoma |
| Variants | |
| Original Genome Build | NR |
| Number of Variants | 2,673 |
| Development Method | |
| Name | Clumping + Thresholding |
| Parameters | r2 = 0.1; p < 0.001 |
| PGS Source | |
| PGS Catalog Publication (PGP) ID | PGP000066 |
| Citation (link to publication) | Craig JE et al. Nat Genet (2020) |
| Study Identifiers | Sample Numbers | Sample Ancestry |
|---|---|---|
| GWAS Catalog: GCST009722 EuropePMC: 31959993 |
351,696 individuals | European |
| Detailed Phenotype Description | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|
| Advanced glaucoma | — | [
|
— | European | — | ANZRAG | Used to select the optimal p-value threshold. Adjusted for sex and first four PCs |
| Advanced glaucoma | — | [ ,
47.0 % Male samples |
Mean = 59.0 years Sd = 10.16 years |
European | — | Used to replicate OR seen in ANZRAG on UK cases from Southhampton and Liverpool |
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) |
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 |
|---|---|---|---|---|---|---|---|---|
| PPM000426 | PSS000249 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Glaucoma | — | AUROC: 0.76[0.73, 0.79] | — | age, sex | Model 3 |
| PPM000425 | PSS000249 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Glaucoma | — | AUROC: 0.64[0.59, 0.68] | — | — | Model 1 |
| PPM000424 | PSS000248 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Glaucoma | — | AUROC: 0.75[0.73, 0.76] | — | age, sex | Model 3 |
| PPM000423 | PSS000248 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Glaucoma | — | AUROC: 0.66[0.64, 0.68] | — | — | Model 1 |
| PPM000422 | PSS000245 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Primary open-angle glaucoma (POAG) | — | AUROC: 0.8 | — | age, sex, self-reported family history | — |
| PPM000421 | PSS000245 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Primary open-angle glaucoma (POAG) | — | AUROC: 0.71[0.66, 0.77] | — | — | — |
| PPM000429 | PSS000247 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Primary open-angle glaucoma (POAG) | — | AUROC: 0.76[0.72, 0.81] | — | age, sex | Model 3 |
| PPM000428 | PSS000247 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Primary open-angle glaucoma (POAG) | — | AUROC: 0.67[0.63, 0.72] | — | — | Model 1 |
| PPM000427 | PSS000246 | PGP000066 Craig JE et al. (2020) |
Reported Trait: Glaucoma in MYOC p.Gln368Ter carriers | — | — | HR (Hazard Ratio; highest vs. lowest tertile of PRS): 3.4[1.7, 6.6] | sex, PCs 1-6 | — |
|
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 |
|---|---|---|---|---|---|---|---|---|
| PSS000245 | — | — | [ ,
43.0 % Male samples |
Mean = 64.02 years Sd = 8.24 years |
European | — | BMES | — |
| PSS000246 | MYOC p.Gln368Ter (rs74315329) carriers using imputation. Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). | — | [
|
— | European | — | UKB | — |
| PSS000247 | ICD-10 defined Primary open-angle glaucoma (POAG) | — | [
|
— | European | — | UKB | — |
| PSS000248 | Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). | — | [
|
— | European | — | UKB | — |
| PSS000249 | Glaucoma cases were defined as those who (i) had an ICD-10 diagnosis of ‘primary open angle glaucoma’, ‘other glaucoma’ or ‘glaucoma, unspecified’; (ii) responded ‘glaucoma’ to the question ‘Has a doctor told you that you have any of the following problems with your eyes?’; or (iii) responded ‘glaucoma’ to the question ‘In the touch screen you selected that you have been told by a doctor that you have other serious illnesses or disabilities, could you now tell me what they are? (non-cancer illness). | — | [
|
— | South Asian | — | UKB | — |