Genetic Study of Diabetic Retinopathy Using the Utah Population Database

Abstract

Abstract: : Purpose:Diabetic retinopathy (DR) is the leading cause of blindness in patients aged 20–64 years. Approximately 60% of patients with type 2 diabetes mellitus have some degree of diabetic retinopathy within 20 years of diagnosis with diabetes. The genetic cause of DR is largely unknown. Using the medical record database of the University of Utah Hospitals and the Utah Population Database (UPDB), we examined the familial clustering of diabetic retinopathy in an attempt to identify the inheritance pattern and genes predisposing to this disease. Methods:The UPDB contains over 20 million records including 8 million genealogical records, 1.8 million birth certificates, death certificates, and driver's license data. The genealogy records can encompass as many as ten generations. We searched the medical record database of the University of Utah Hospitals and Clinics and identified patients with type 2 diabetes, DR (ICD9 diagnosis codes 350.0 for type 2 diabetes mellitus, 362.01 for non–proliferative DR; 362.02 for proliferative DR; 362.83 for diabetic macular edema). We then performed cross–match analysis with genealogy. A familial cluster is defined as a pedigree containing more than four affected family members. Results:Cross–match analysis and queries of the medical record database and UPDB revealed over 17,000 affected subjects with type 2 diabetes mellitus of which over 2,500 have diabetic retinopathy. Among this group, 17 large pedigrees with greater than four affected members were identified. Conclusions:The UPDB is a powerful database with an invaluable application in identifying familial patterns of diabetic retinopathy. The pedigrees bearing a high prevalence of diabetic retinopathy will serve as targets for future genetics studies aimed at identifying specific genetic defects for the disease.

Keywords: genetics • diabetic retinopathy • diabetes