Gene Linked to Severe Diabetic Retinopathy and Renal Disease

Researchers have identified a gene called erythropoietin (EPO) that is linked to higher risk of severe retinopathy and nephropathy, eye and kidney diseases that often affect diabetic patients.

Diabetic retinopathy (PDR) is the most common cause of legal blindness in working-aged adults in the United States, accounting for 10% of new cases of blindness. Diabetes is also the leading cause of kidney disease, called end-stage renal disease (ESRD), in the U.S. and the Western world.

While researchers have known that these conditions in diabetic patients can be hereditary, the actual genese involved have been relatively unknown until now.

Researchers discovered the involvement of the EPO gene in a study of 1,618 people with diabetic retinopathy and end-stage renal disease, 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 the mutant EPO gene, they have an increased risk of developing PDR and ESRD during their lifetime.

According to Dr. Dean Li from the Program in Human Molecular Biology and Genetics at the University of Utah, while there is no proven pharmacologic treatment for diabetic vascular eye diseases, "inhibiting the growth of unwanted blood vessel growth using antibodies directed against vascular endothelial growth factor (anti-VEGF therapy) has been advocated. This genetic study suggests that future therapeutic strategies need to consider blunting the effects of erythropoietin in addition or as an alternative to an anti-VEGF strategy."

The study was 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, and was published in the journal Proceedings of National Academy of Sciences.

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