600-P: The 1000 Qatar Omics Study: Development of New Analytical Tools for Early Prediction and Treatment of Diabetic Retinopathy in Qatar

Background: According to WHO, Qatar is one of the countries most affected by type 2 diabetes T2D worldwide. Despite current treatments, patients suffering from diabetes are still at risk of developing microvascular complications. Of which, Diabetic Retinopathy DR is a debilitating microvascular complication, which leads to blindness, if left untreated. Hypothesis and Aims: the genetic variants SNPs, circulating non-coding RNAs, mRNAs, and proteins, detected in diabetic individuals progressing to DR are accurate biomarkers for DR detection, progression and can be utilized effectively in future screening programs for at-risk individuals as well as for monitoring the outcome of interventions/treatments for DR. The aim is to investigate the SNPs using WGS data, and assess microRNA, mRNA and protein signature of DR progression in T2D patients with and without DR comparing to the healthy controls. Methodology: plasma samples, WGS data of 500 T2D with and without DR and 500 healthy controls subjects were included in this study. Retinal scans are available for all the study participants to assess and classify the DR stages. Total RNA was extracted from plasma samples, microRNA customes assays profiling, proteins and mRNAs are currently at the final stages of analysis and will be ready at the time of the presentation. Preliminary Results: our preliminary analyses through genome-and proteome-wide discovery studies using cellular systems and clinical samples, identified an omics signature of DR comprising of: four mRNAs of endothelial stress, 45 microRNAs of progressing to DR, eight proteins of proliferative DR vs. no DR and candidate SNPs identified in a Qatari cohort that are associated with DR progression. Conclusion: This information will significantly impact the development of newer analytical tools and better therapies that will allow early prediction and treatment of DR, thereby reducing the burden of sight threatening diabetes complications in Qatar.