A genome‐wide association study suggests that the NADPH Oxidase 4 (NOX4) gene is associated with severe diabetic retinopathy in a Scottish diabetic population

Abstract

SummaryDiabetic retinopathy is one of the devastating eye complications in patients with diabetes. The purpose of this study is to investigate the genetic contributors of severe diabetic retinopathy using a Scottish diabetic population through a genome‐wide association approach. In the Genetics of Diabetes Audit and Research in Tayside Scotland (GoDARTS) datasets, cases of severe diabetic retinopathy were defined as type 2 diabetic patients who were ever graded as having severe background retinopathy (Level R3) or proliferative retinopathy (Level R4) in at least one eye according to the Scottish Diabetic Retinopathy Grading Scheme or who were once treated by laser photocoagulation. Controls were diabetic individuals whose longitudinal retinopathy screening records were either normal (Level R0) or only with mild background retinopathy (Level R1) in both eyes. 560 cases of type 2 diabetes with severe diabetic retinopathy and 4,106 controls were identified in the GoDARTS cohort. We revealed that rs3913535 in the NADPH Oxidase 4 (NOX4) gene reached a p value of 4.05 × 10−9. This genome‐wide association study of severe diabetic retinopathy suggests that the NOX4 gene might play a role in retinopathy.