Unraveling the genetic architecture of diabetic retinopathy
Principal Investigator: Dr Lucia Sobrin
Approved Research ID: 44363
Approval date: July 3rd 2019
Background Information and Scientific Rationale: Diabetic retinopathy (DR) is the leading cause of blindness in working age citizens in developed countries. There is evidence for a genetic contribution to DR. To date, only a few genes that might contribute to DR have been discovered. This is in part because genetic studies of DR have thus far contained limited numbers of participants. New methods of combining and analyzing samples from different racial/ethnic groups provide an opportunity to increase our ability to detect genes associated with DR. Hypotheses: Combining genetic samples from participants from multiple populations will increase the ability to discover DR genes. Specific Aims. (1) To identify genetic variants associated to DR by performing study in a South Indian population at high risk for DR and replicating it in other populations, including populations in the UK Biobank database. (2) To perform a larger study jointly with studies of DR including the UK Biobank Data. Methods: Genetic data from a South Indian population will be analyzed. Individuals with diabetes and no DR with be compared to individuals with diabetes and DR. Findings from this analysis will be replicated and combined with similar analyses in other populations including the population in the UK Biobank. Project Duration: This project will be completed in 3 years. Public Health Impact: If genes associated with DR are identified, they will provide insights into the disease and may lead to new therapies for DR. In addition, results may provide information with which to counsel diabetic patients regarding their risk of DR.