Polygenic Score (PGS) ID: PGS000137

Predicted Trait
Reported Trait Glaucoma
Mapped Trait(s) glaucoma (EFO_0000516)
Released in PGS Catalog: March 27, 2020
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Score Details

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)

Contributing Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry
GWAS Catalog: GCST009722
EuropePMC: 31959993		 351,696 individuals European
Score Development/Training
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
Advanced glaucoma —
[
  • 1,734 cases
  • , 2,938 controls
]
 — European — ANZRAG Used to select the optimal p-value threshold. Adjusted for sex and first four PCs
Advanced glaucoma —
[
  • 332 cases
  • , 3,000 controls
]
,
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

Performance Metrics

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
PPM000422 PSS000245 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.8 — age, sex, self-reported family history —
PPM000426 PSS000249 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.76 [0.73, 0.79] — age, sex Model 3
PPM000424 PSS000248 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.75 [0.73, 0.76] — age, sex Model 3
PPM000429 PSS000247 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.76 [0.72, 0.81] — age, sex Model 3
PPM000425 PSS000249 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.64 [0.59, 0.68] — — Model 1
PPM000423 PSS000248 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Glaucoma — AUROC: 0.66 [0.64, 0.68] — — Model 1
PPM000428 PSS000247 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.67 [0.63, 0.72] — — Model 1
PPM000427 PSS000246 PGP000066
Craig JE et al. Nat Genet (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 —
PPM000421 PSS000245 PGP000066
Craig JE et al. Nat Genet (2020)
 Reported Trait: Primary open-angle glaucoma (POAG) — AUROC: 0.71 [0.66, 0.77] — — —

Evaluated Samples

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
PSS000245 — —
[
  • 74 cases
  • , 1,721 controls
]
,
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). —
[
  • 72 cases
  • , 893 controls
]
 — European — UKB —
PSS000247 ICD-10 defined Primary open-angle glaucoma (POAG) —
[
  • 112 cases
  • , 3,000 controls
]
 — 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). —
[
  • 112 cases
  • , 3,000 controls
]
 — 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). —
[
  • 192 cases
  • , 6,841 controls
]
 — South Asian — UKB —