Diabetic Retinopathy study with SNP/CNV (Array), SNP/CNV Genotypes (NGS) + 1 more data on dbGaP (2,393 participants)

phs002116 — Unraveling the Genetic Architecture of Diabetic Retinopathy in South    India

<p>This study aims to understand the genetic architecture of diabetic retinopathy in the South Indian population by examining participants with South Indian ancestry and type 2 diabetes (T2D) from two sources: the Sankara Nethralaya-Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN-DREAMS) and prospective recruitment at <a href="https://www.sankaranethralaya.org/">Sankara Nethralaya</a> affiliates. A total of 2393 patients were recruited and included in the genetic analysis, with 1588 patients having no diabetic retinopathy (DR) serving as the controls and 805 patients with any level of DR serving as the cases. Enrolled individuals had genome-wide genotyping from DNA extracted from blood samples. In addition, whole genome sequencing (WGS) was performed on 31 members from 2 families. Clinical data, such as age, duration of diabetes, and hemoglobin A1C (HbA1c) were recorded for study participants. Diabetic retinopathy was assessed by clinical exam and/or fundus photography. The grading of diabetic retinopathy followed the International Clinical Diabetic Retinopathy Severity Scale.</p>