Approved research

An international collaboration to identify the genetic variants of diabetic retinopathy

Lay summary

Diabetic retinopathy (DR) is the most common eye complication in diabetic patients and the most common cause of blindness among people of working age in the UK. Around 30% type 2 diabetes will develop DR and this represents 1.5 million people in the UK. The quality of life for DR patients can be significantly affected due to visual impairment, worries and movement restrictions. In addition to physical and emotional impacts, DR also represents a significant economic burden to the healthcare system. Therefore it is important to study the mechanism of DR which might lead to a method to reduce the impact of this disorder. The genetic mechanism of DR is far from being understood despite previous studies have confirmed that DR is a disorder with genetic components. There have been some genome-wide association studies on DR while the results need further confirmation. The UK Biobank has recruited 30,000 participants with diabetes and among them, over 2,200 have developed DR. This allows us to perform a standard genome-wide association study on DR aiming to identify the genetic components. In addition, we will perform a GWAS meta-analysis using the GWAS summary statistics on DR provided by researchers of the International Diabetic Retinopathy Consortium on Genetics (IDRCG). Our study combining UK Biobank and IDRCG will be by far the largest one on DR. The project will last around 1.5 years. We will find the genetic variants for diabetic retinopathy which will fill the gap in the current understanding of this order. The genetic finding of our project might imitate the development of effective treatments such as identifying genetic variants with potential to be a drug target for prevention or treatments.