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.Show more
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:
Display options:
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

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Polygenic Score ID & Name
PGS Publication ID (PGP)
Reported Trait
Mapped Trait(s) (Ontology)
Number of Variants
Ancestry distribution
GWAS
Dev
Eval
Scoring File (FTP Link)
PGS000819
(PRS_DR)
PGP000203 |
Forrest IS et al. Hum Mol Genet (2021)
Diabetic retinopathydiabetic retinopathy3,537,914
G
-
E
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000819/ScoringFiles/PGS000819.txt.gz
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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.

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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
PPM002185PGS000819
(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 diabetesOR: 1.12 [1.04, 1.2]————
PPM002186PGS000819
(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 diabetesOR: 1.22 [1.02, 1.41]————
PPM002187PGS000819
(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 diabetesOR: 1.15 [1.03, 1.28]————
PPM002188PGS000819
(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—
PPM002189PGS000819
(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 diabetesOR: 1.14 [1.05, 1.23]——PCs(1-20), type 2 diabetes duration, type 2 diabetes medication, hyperglycemia, elevated HbA1c, hype... rtension, hypercholesterolemia, hyperlipidemia, insomina, sleep apnea, age, sex, body mass indexShow more—
PPM002190PGS000819
(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 diabetesOR: 1.44 [1.03, 2.02]————
PPM002191PGS000819
(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 diabetesOR: 1.31 [1.02, 1.7]————
PPM002192PGS000819
(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 diabetesHR: 1.13 [1.05, 1.21]——Age, sex, body mass index, PCs(1-20), history of hypertension, glucose levels—
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Evaluated Samples

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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
PSS001065All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 317 cases
  • , 1,608 controls
]
—African American or Afro-Caribbean—BioMe—
PSS001066All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 90 cases
  • , 888 controls
]
—European—BioMe—
PSS001067All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 90 cases
  • , 888 controls
]
—European—BioMe—
PSS001067All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 317 cases
  • , 1,608 controls
]
—African American or Afro-Caribbean—BioMe—
PSS001067All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 507 cases
  • , 2,182 controls
]
—Hispanic or Latin American—BioMe—
PSS001067All individuals had type 2 diabetes (T2D). Cases were individuals with diabetic retinopathy (DR). T2... D was ascertained with ICD-10 from E11.0-E11.9. DR was ascertained with an ICD-10 of E11.3.Show more—
[
  • 49 cases
  • , 438 controls
]
—Asian unspecified, Native American, NR—BioMe—
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