Dataset
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Publications
Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.
Pollack S, et al.
Diabetes. 2019 Feb; 68(2): 441–456. doi: 10.2337/db18-0567
PMID:30487263
Dataset phenotypes
- Diabetic retinopathy (DR) vs no DR
- Diabetic retinopathy (DR) vs no DR acct DoD-GC (accounting for duration of diabetes and glycemic control)
- Proliferative diabetic retinopathy (PDR) vs no PDR
- Proliferative diabetic retinopathy (PDR) vs no PDR acct DoD-GC (accounting for duration of diabetes and glycemic control)
- Non-proliferative diabetic retinopathy vs no DR
- Non-proliferative diabetic retinopathy vs no DR acct DoD-GC (accounting for duration of diabetes and glycemic control)
- Proliferative diabetic retinopathy vs no DR
- Proliferative diabetic retinopathy vs no DR acct DoD-GC (accounting for duration of diabetes and glycemic control)
Dataset subjects (primary "any DR" analysis)
| Cases |
Controls |
Cohort (Click to view selection criteria for cases and controls) |
Ancestry |
| 85 |
222 |
Age, Gene/Environment, Susceptibility - Reykjavik Study (AGES)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
|
European |
| 126 |
632 |
Atherosclerosis Risk in Communities Study (ARIC)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
|
European |
| 522 |
435 |
Australian Genetics of Diabetic Retinopathy Study (AUST)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by a fasting plasma glucose level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 126 mg/dL (7.0 mmol/L)
- Diabetes onset was after age 30
|
|
European |
| 124 |
208 |
Blue Mountains Eye Study (BMES)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by a fasting plasma glucose level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 126 mg/dL (7.0 mmol/L)
- Diabetes onset was after age 30
|
|
European |
| 26 |
119 |
Cardiovascular Health Study (CHS)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by a fasting plasma glucose level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 126 mg/dL (7.0 mmol/L)
- Diabetes onset was after age 30
|
|
European |
| 158 |
154 |
Family Study of Nephropathy and Diabetes-Eye (FIND-Eye)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
|
European |
| 38 |
200 |
Multiethnic Study of Atherosclerosis (MESA)
| Case selection criteria |
Control selection criteria |
- Early Treatment Diabetic Retinopathy Study (ETDRS) score ≥ 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
- Early Treatment Diabetic Retinopathy Study (ETDRS) score < 14
- All subjects had type 2 diabetes as defined by an HbA1c level ≥ 6.5% (48 mmol/mol)
- Diabetes onset was after age 30
|
|
European |
Experiment summary
This study analyzed genetic associations in type 2 diabetics for four diabetic retinopathy (DR) case-control definitions. Two datasets are incorporated into the Knowledge Portal: one for subjects of African American ancestry and one for subjects of European ancestry. The primary case-control definition compared any DR to no DR using the Early Treatment Diabetic Retinopathy Study (ETDRS) score thresholds ETDRS ≥ 14 for cases and ETDRS < 14 for controls. Secondary analyses compared:
- patients with proliferative diabetic retinopathy (PDR) to those without PDR (ETDRS ≥ 60 vs. ETDRS < 60)
- patients with nonproliferative DR (NPDR) or worse to those without DR (ETDRS ≥ 30 vs. ETDRS < 14)
- patients with PDR to those without DR (ETDRS ≥ 60 vs. ETDRS < 14)
Analyses were performed with or without liability threshold modeling to account for the strongest two covariates, duration of diabetes and glycemic control.
