Polygenic Score (PGS) ID: PGS001137

Predicted Trait
Reported Trait Retinal detachment
Mapped Trait(s) retinal detachment (EFO_0005773)
Additional Trait Information https://biobankengine.stanford.edu/RIVAS_HG19/snpnet/HC302
Released in PGS Catalog: Oct. 21, 2021
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Terms and Licenses
PGS obtained from the Catalog should be cited appropriately, and used in accordance with any licensing restrictions set by the authors. See EBI Terms of Use (https://www.ebi.ac.uk/about/terms-of-use/) for additional details.

Score Details

Score Construction
PGS Name GBE_HC302
Development Method
Name snpnet
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 321
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

Development Samples

Score Development/Training
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
—
[
  • 2,902 cases
  • , 266,802 controls
]
 European UKB — — — white British ancestry —

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) 		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
PPM008412 PSS004418|
African Ancestry|
6,497 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.65217 [0.57926, 0.72508] R²: 0.03407
Incremental AUROC (full-covars): -0.00918
PGS R2 (no covariates): 1e-05
PGS AUROC (no covariates): 0.49921 [0.41839, 0.58004]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008413 PSS004419|
East Asian Ancestry|
1,704 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.7872 [0.68424, 0.89016] R²: 0.13209
Incremental AUROC (full-covars): 0.01471
PGS R2 (no covariates): 0.00931
PGS AUROC (no covariates): 0.57064 [0.39309, 0.74819]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008414 PSS004420|
European Ancestry|
24,905 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.65311 [0.62153, 0.68468] R²: 0.02791
Incremental AUROC (full-covars): 0.01854
PGS R2 (no covariates): 0.00663
PGS AUROC (no covariates): 0.57317 [0.53771, 0.60862]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008415 PSS004421|
South Asian Ancestry|
7,831 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.73537 [0.67789, 0.79285] R²: 0.0635
Incremental AUROC (full-covars): 0.01358
PGS R2 (no covariates): 0.00738
PGS AUROC (no covariates): 0.55915 [0.48569, 0.63261]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM008416 PSS004422|
European Ancestry|
67,425 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Retinal detachment — AUROC: 0.63847 [0.61945, 0.65749] R²: 0.02286
Incremental AUROC (full-covars): 0.00912
PGS R2 (no covariates): 0.00357
PGS AUROC (no covariates): 0.55079 [0.52979, 0.57179]		 age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method

Evaluated Samples

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
PSS004418 — —
[
  • 47 cases
  • , 6,450 controls
]
 — African unspecified — UKB —
PSS004419 — —
[
  • 11 cases
  • , 1,693 controls
]
 — East Asian — UKB —
PSS004420 — —
[
  • 245 cases
  • , 24,660 controls
]
 — European non-white British ancestry UKB —
PSS004421 — —
[
  • 64 cases
  • , 7,767 controls
]
 — South Asian — UKB —
PSS004422 — —
[
  • 772 cases
  • , 66,653 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)