Polygenic Score (PGS) ID: PGS000819

Predicted Trait
Reported Trait Diabetic retinopathy
Mapped Trait(s) diabetic retinopathy (EFO_0003770)
Released in PGS Catalog: July 29, 2021
Download Score FTP directory
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 PRS_DR
Development Method
Name LDpred
Parameters P = 0.0024, rho = 0.001
Variants
Original Genome Build GRCh37
Number of Variants 3,537,914
Effect Weight Type NR
PGS Source
PGS Catalog Publication (PGP) ID PGP000203
Citation (link to publication) Forrest IS et al. Hum Mol Genet (2021)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
17,567 individuals (100%)
PGS Evaluation
African: 33.3%
European: 33.3%
Multi-ancestry (including European): 33.3%
  • European
  • African
  • Hispanic or Latin American
3 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
Europe PMC: 33704450
[
  • 866 cases
  • , 16,701 controls
]
,
62.21 % Male samples
 European
(British)		 UKB

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
PPM002190 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Retinal hemorrhage in inidividuals with type 2 diabetes OR: 1.44 [1.03, 2.02] — — — —
PPM002185 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.12 [1.04, 1.2] — — — —
PPM002186 PSS001066|
European Ancestry|
978 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.22 [1.02, 1.41] — — — —
PPM002187 PSS001065|
African Ancestry|
1,925 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.15 [1.03, 1.28] — — — —
PPM002188 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes — — Odds Ratio (OR, top 10% vs bottom 10%): 1.8 [1.28, 2.55] Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels —
PPM002189 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diabetic retinopathy in individuals with type 2 diabetes OR: 1.14 [1.05, 1.23] — — PCs(1-20), type 2 diabetes duration, type 2 diabetes medication, hyperglycemia, elevated HbA1c, hypertension, hypercholesterolemia, hyperlipidemia, insomina, sleep apnea, age, sex, body mass index —
PPM002191 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Diplopia in individuals with type 2 diabetes OR: 1.31 [1.02, 1.7] — — — —
PPM002192 PSS001067|
Multi-ancestry (including European)|
6,079 individuals
 PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
 Reported Trait: Time to diabetic retinopathy diagnosis in individuals with type 2 diabetes HR: 1.13 [1.05, 1.21] — — Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels —

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
PSS001065 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 317 cases
  • , 1,608 controls
]
 — African American or Afro-Caribbean — BioMe —
PSS001066 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 90 cases
  • , 888 controls
]
 — European — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 90 cases
  • , 888 controls
]
 — European — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 317 cases
  • , 1,608 controls
]
 — African American or Afro-Caribbean — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 507 cases
  • , 2,182 controls
]
 — Hispanic or Latin American — BioMe —
PSS001067 All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3. —
[
  • 49 cases
  • , 438 controls
]
 — Asian unspecified, Native American, NR — BioMe —