Researchers at the John A. Moran Eye Center at the University of Utah and collaborative institutions have identified a gene called erythropoietin (EPO) that contributes to increased risk of severe diabetic eye and kidney diseases, called retinopathy and nephropathy.
The sight-threatening form of diabetic retinopathy, termed proliferative diabetic retinopathy (PDR), is the most common cause of legal blindness in working-aged adults in the United States, accounting for 10% of new onset blindness overall. Diabetes is also the leading cause of kidney disease, called end-stage renal disease (ESRD), in the U.S. and the Western world.
Led by Kang Zhang M.D., Ph.D., Director of the Division of Ophthalmic Genetics at the Moran Eye Center and Associate Professor of Ophthalmology and Visual Sciences at the University of Utah, the study will be published online on May 5, 2008 in the journal Proceedings of National Academy of Sciences. Dr. Zhang explains the significance of the discovery: "We know that the development of PDR and ESRD in diabetic patients can be inherited. Although genetic factors are known to be important in the susceptibility (or resistance) to these complications, until now the genes involved have been mostly unknown."
How did the researchers discover that this gene is involved in PDR and ESRD? In this study the researchers compared 1618 people with PDR and ESDR, and 954 diabetes patients without any eye or kidney disease in three separate populations. Their studies demonstrate that if a person has a copy of mutant EPO gene, they have an increased risk of developing PDR and ESRD during their lifetime.