Trait: diabetic retinopathy

Experimental Factor Ontology (EFO) Information
Identifier EFO_0003770
Description A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness. [NCIT: P378]
Trait categories
Cardiovascular disease
Metabolic disorder
Neurological disorder
Synonyms 5 synonyms
  • Diabetic Retinopathies
  • Retinopathies, Diabetic
  • Retinopathy, Diabetic
  • diabetic retinopathy
  • retinal abnormality - diabetes-related
Mapped terms 17 mapped terms
  • DOID:8947
  • ICD9:362.0
  • MEDGEN:3786
  • MESH:D003930
  • MONDO:0005266
  • MeSH:D003930
  • MedDRA:10012689
  • NCIT:C34538
  • NCIt:C34538
  • OMIM:603933
  • OMIM:612623
  • OMIM:612633
  • OMIM:612635
  • SCTID:4855003
  • SNOMEDCT:4855003
  • UMLS:C0011884
  • icd11.foundation:1006882070

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
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
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
PGS001819
(portability-PLR_250.7)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Diabetic retinopathy diabetic retinopathy 249
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001819/ScoringFiles/PGS001819.txt.gz
PGS002027
(portability-ldpred2_250.7)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Diabetic retinopathy diabetic retinopathy 389,029
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002027/ScoringFiles/PGS002027.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 —
PPM009452 PGS001819
(portability-PLR_250.7)
 PSS009289|
European Ancestry|
19,330 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0366 [0.0226, 0.0507] sex, age, birth date, deprivation index, 16 PCs —
PPM009453 PGS001819
(portability-PLR_250.7)
 PSS009063|
European Ancestry|
4,032 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0638 [0.033, 0.0946] sex, age, birth date, deprivation index, 16 PCs —
PPM009454 PGS001819
(portability-PLR_250.7)
 PSS008617|
European Ancestry|
6,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0315 [0.0071, 0.0559] sex, age, birth date, deprivation index, 16 PCs —
PPM009455 PGS001819
(portability-PLR_250.7)
 PSS008393|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0471 [-0.1048, 0.011] sex, age, birth date, deprivation index, 16 PCs —
PPM009456 PGS001819
(portability-PLR_250.7)
 PSS008171|
South Asian Ancestry|
6,081 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0325 [0.0074, 0.0577] sex, age, birth date, deprivation index, 16 PCs —
PPM009457 PGS001819
(portability-PLR_250.7)
 PSS007958|
East Asian Ancestry|
1,764 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0249 [-0.0718, 0.022] sex, age, birth date, deprivation index, 16 PCs —
PPM009459 PGS001819
(portability-PLR_250.7)
 PSS008842|
African Ancestry|
3,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0089 [-0.0233, 0.041] sex, age, birth date, deprivation index, 16 PCs —
PPM009458 PGS001819
(portability-PLR_250.7)
 PSS007739|
African Ancestry|
2,385 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0193 [-0.0596, 0.021] sex, age, birth date, deprivation index, 16 PCs —
PPM011090 PGS002027
(portability-ldpred2_250.7)
 PSS009289|
European Ancestry|
19,330 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0451 [0.031, 0.0592] sex, age, birth date, deprivation index, 16 PCs —
PPM011091 PGS002027
(portability-ldpred2_250.7)
 PSS009063|
European Ancestry|
4,032 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0607 [0.0298, 0.0915] sex, age, birth date, deprivation index, 16 PCs —
PPM011092 PGS002027
(portability-ldpred2_250.7)
 PSS008617|
European Ancestry|
6,465 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0241 sex, age, birth date, deprivation index, 16 PCs —
PPM011093 PGS002027
(portability-ldpred2_250.7)
 PSS008393|
Greater Middle Eastern Ancestry|
1,162 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0311 [-0.0889, 0.027] sex, age, birth date, deprivation index, 16 PCs —
PPM011094 PGS002027
(portability-ldpred2_250.7)
 PSS008171|
South Asian Ancestry|
6,081 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0351 [0.01, 0.0603] sex, age, birth date, deprivation index, 16 PCs —
PPM011095 PGS002027
(portability-ldpred2_250.7)
 PSS007958|
East Asian Ancestry|
1,764 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0302 [-0.077, 0.0168] sex, age, birth date, deprivation index, 16 PCs —
PPM011096 PGS002027
(portability-ldpred2_250.7)
 PSS007739|
African Ancestry|
2,385 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): -0.0204 [-0.0606, 0.0199] sex, age, birth date, deprivation index, 16 PCs —
PPM011097 PGS002027
(portability-ldpred2_250.7)
 PSS008842|
African Ancestry|
3,732 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Diabetic retinopathy — — Partial Correlation (partial-r): 0.0062 [-0.0259, 0.0384] sex, age, birth date, deprivation index, 16 PCs —

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
PSS009289 — — 19,330 individuals — European UK (+ Ireland) UKB —
PSS008393 — — 1,162 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —
PSS009063 — — 4,032 individuals — European Poland (NE Europe) UKB —
PSS008171 — — 6,081 individuals — South Asian India (South Asia) UKB —
PSS001084 Moderate Age-Related Diabetes (MARD) vs. controls —
[
  • 2,853 cases
  • , 2,744 controls
]
 — European Swedish ANDIS —
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 —
PSS008842 — — 3,732 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007958 — — 1,764 individuals — East Asian China (East Asia) UKB —
PSS008617 — — 6,465 individuals — European Italy (South Europe) 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 — 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 —
PSS007739 — — 2,385 individuals — African American or Afro-Caribbean Carribean UKB —
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 —