| 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. |
| 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 retinopathy | diabetic retinopathy | 3,537,914 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000819/ScoringFiles/PGS000819.txt.gz |
|
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 | — |
|
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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | 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. | — | [
|
— | Asian unspecified, Native American, NR | — | BioMe | — |