PGS Publication: PGP000203

Publication Information (EuropePMC)
Title Genome-wide polygenic risk score for retinopathy of type 2 diabetes.
PubMed ID 33704450(Europe PMC)
doi 10.1093/hmg/ddab067
Publication Date May 1, 2021
Journal Hum Mol Genet
Author(s) Forrest IS, Chaudhary K, Paranjpe I, Vy HMT, Marquez-Luna C, Rocheleau G, Saha A, Chan L, Van Vleck T, Loos RJF, Cho J, Pasquale LR, Nadkarni GN, Do R.
Released in PGS Catalog: July 29, 2021

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
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Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

PGS Developed By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000819
(PRS_DR)
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Diabetic retinopathy diabetic retinopathy 3,537,914
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000819/ScoringFiles/PGS000819.txt.gz

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)
Evaluated Score 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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 PGS000819
(PRS_DR)
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 Mount Sinai
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 Mount Sinai
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 Mount Sinai
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 Mount Sinai
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 Mount Sinai
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 Mount Sinai