Trait: diabetic eye disease

Experimental Factor Ontology (EFO) Information
Identifier EFO_0009486
Description A group of disorders affecting the eye in patients with diabetes mellitus. It includes cataract, glaucoma, retinopathy, and blindness. [ NCI ]
Trait category
Other disease
Mapped terms 2 mapped terms
  • MedDRA:10012661
  • NCIt:C84420
Child trait(s) diabetic retinopathy

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
Note: This table shows all PGS for "diabetic eye disease" and any child terms of this trait in the EFO hierarchy by default.
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
PGS000862
(DR)
PGP000211 |
Aly DM et al. Nat Genet (2021)
Diabetic Retinopathy diabetic retinopathy 30
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000862/ScoringFiles/PGS000862.txt.gz
PGS001028
(GBE_BIN_FC1006148)
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Diabetic eye disease diabetic eye disease 123
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001028/ScoringFiles/PGS001028.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
PPM002393 PGS000862
(DR)
PSS001086|
European Ancestry|
3,194 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Severe Autoimmune Diabetes OR: 0.98 [0.89, 1.08] PC1-10
PPM002395 PGS000862
(DR)
PSS001088|
European Ancestry|
3,869 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Severe Insulin-Resistant Diabetes OR: 1.09 [1.02, 1.17] PC1-10
PPM002397 PGS000862
(DR)
PSS001084|
European Ancestry|
5,597 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Moderate Age-Related Diabetes OR: 1.01 [0.96, 1.07] PC1-10
PPM002394 PGS000862
(DR)
PSS001087|
European Ancestry|
3,930 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Severe Insulin-Deficient Diabetes OR: 1.03 [0.96, 1.1] PC1-10
PPM002396 PGS000862
(DR)
PSS001085|
European Ancestry|
4,116 individuals
PGP000211 |
Aly DM et al. Nat Genet (2021)
Reported Trait: Moderate Obesity-related Diabetes OR: 1.09 [1.02, 1.17] PC1-10
PPM007903 PGS001028
(GBE_BIN_FC1006148)
PSS003765|
African Ancestry|
3,307 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Diabetic eye disease AUROC: 0.76275 [0.72796, 0.79755] : 0.13906
Incremental AUROC (full-covars): 0.0014
PGS R2 (no covariates): 0.00197
PGS AUROC (no covariates): 0.53892 [0.49569, 0.58215]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007904 PGS001028
(GBE_BIN_FC1006148)
PSS003766|
East Asian Ancestry|
706 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Diabetic eye disease AUROC: 0.83123 [0.71584, 0.94663] : 0.24524
Incremental AUROC (full-covars): -0.00599
PGS R2 (no covariates): 0.0016
PGS AUROC (no covariates): 0.44953 [0.27083, 0.62822]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007905 PGS001028
(GBE_BIN_FC1006148)
PSS003767|
European Ancestry|
9,719 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Diabetic eye disease AUROC: 0.69201 [0.65353, 0.73049] : 0.05584
Incremental AUROC (full-covars): 0.01974
PGS R2 (no covariates): 0.01281
PGS AUROC (no covariates): 0.5903 [0.54859, 0.632]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007906 PGS001028
(GBE_BIN_FC1006148)
PSS003768|
South Asian Ancestry|
3,533 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Diabetic eye disease AUROC: 0.7302 [0.69952, 0.76088] : 0.11745
Incremental AUROC (full-covars): 0.002
PGS R2 (no covariates): 0.00272
PGS AUROC (no covariates): 0.53803 [0.50292, 0.57313]
age, sex, UKB array type, Genotype PCs Full Model & PGS R2 is estimated using Nagelkerke's method
PPM007907 PGS001028
(GBE_BIN_FC1006148)
PSS003769|
European Ancestry|
22,053 individuals
PGP000244 |
Tanigawa Y et al. medRxiv (2021)
|Pre
Reported Trait: Eye problems/disorders Diabetic eye disease AUROC: 0.69853 [0.67583, 0.72122] : 0.05279
Incremental AUROC (full-covars): 0.01792
PGS R2 (no covariates): 0.00926
PGS AUROC (no covariates): 0.57814 [0.55078, 0.6055]
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
PSS003768
[
  • 269 cases
  • , 3,264 controls
]
South Asian UKB
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls
[
  • 2,853 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS003767
[
  • 187 cases
  • , 9,532 controls
]
European non-white British ancestry UKB
PSS003765
[
  • 182 cases
  • , 3,125 controls
]
African unspecified UKB
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
PSS001085 Moderate Obesity-related Diabetes (MOD) vs. controls
[
  • 1,372 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001086 Severe Autoimmune Diabetes (SAID) vs. controls
[
  • 450 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001087 Severe Insulin-Deficient Diabetes (SIDD) vs. controls
[
  • 1,186 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS001088 Severe Insulin-Resistant Diabetes (SIRD) vs. controls
[
  • 1,125 cases
  • , 2,744 controls
]
European Swedish ANDIS
PSS003766
[
  • 14 cases
  • , 692 controls
]
East Asian UKB
PSS003769
[
  • 444 cases
  • , 21,609 controls
]
European white British ancestry UKB Testing cohort (heldout set)