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 trait
Mapped terms 2 mapped terms
  • MedDRA:10012661
  • NCIt:C84420

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)
PGS001028
(GBE_BIN_FC1006148)
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 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
PPM007903 PGS001028
(GBE_BIN_FC1006148)
 PSS003765|
African Ancestry|
3,307 individuals
 PGP000244 |
Tanigawa Y et al. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Diabetic eye disease — AUROC: 0.76275 [0.72796, 0.79755] R²: 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. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Diabetic eye disease — AUROC: 0.83123 [0.71584, 0.94663] R²: 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. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Diabetic eye disease — AUROC: 0.69201 [0.65353, 0.73049] R²: 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. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Diabetic eye disease — AUROC: 0.7302 [0.69952, 0.76088] Incremental AUROC (full-covars): 0.002
R²: 0.11745
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. PLoS Genet (2022)
 Reported Trait: Eye problems/disorders Diabetic eye disease — AUROC: 0.69853 [0.67583, 0.72122] R²: 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
PSS003765 — —
[
  • 182 cases
  • , 3,125 controls
]
 — African unspecified — UKB —
PSS003766 — —
[
  • 14 cases
  • , 692 controls
]
 — East Asian — UKB —
PSS003767 — —
[
  • 187 cases
  • , 9,532 controls
]
 — European non-white British ancestry UKB —
PSS003768 — —
[
  • 269 cases
  • , 3,264 controls
]
 — South Asian — UKB —
PSS003769 — —
[
  • 444 cases
  • , 21,609 controls
]
 — European white British ancestry UKB Testing cohort (heldout set)