Progress and challenges in genome-wide studies to understand the genetics of diabetic retinopathy

There are many advantages to understanding the genetics of human disease. Genetic markerscan be used to calculate the risk of developing a disease, and elucidation of genetic risk factors can pinpointthe molecular aetiology of disease, which can facilitate the development of targeted therapies. Diabeticretinopathy (DR) is a common complication of diabetes that has a significant impact on quality of life.It has a clear genetic component, but determination of the genetic risk factors has proven difficult. Todate, genome-wide studies for DR have been conducted on relatively small patient cohorts comparedto other complex eye diseases and replication of genetic findings has been limited. The disease is highlyheterogeneous, confounding attempts to classify patients into appropriate groups for genetic analysis andmaking direct comparisons between studies challenging. Future studies to determine the genetic causes ofDR will need to focus on larger sample sizes, detailed phenotyping and appropriate classification of patients.Global co-operation and meta-analyses combining data from multiple studies will be critical to the discoveryof genetic risk loci for DR.