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The erythropoietin gene polymorphism (rs1617640) is associated with retinopathy in type 2 diabetes patients
Jolanta Szeliga-Krol1, Agata Betlejewska1, Monika Buraczynska2
1Department of Nephrology, Medical University of Lublin, Jaczewskiego 8, 20-950, Lublin, Poland.
Aims:
Our study aimed to evaluate the association between the erythropoietin gene rs1617640 polymorphism and diabetic retinopathy (DR) in diabetes patients.
Methods:
In this preliminary retrospective study the genotyping was performed on 860 DNA samples from Caucasian patients with type 2 diabetes mellitus (T2DM). For analyzing the effect of the polymorphism, patients were assigned into three phenotypic subgroups: non-DR (without retinopathy), NPDR (with non-proliferative diabetic retinopathy) and PDR (with proliferative diabetic retinopathy). The rs1617640 polymorphism was analyzed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and direct DNA sequencing procedures.
Results:
A statistically significant difference in the polymorphism distribution was observed between T2DM patients with DR (both NPDR and PDR) and those without DR. The minor G allele was associated with the increased risk of DR. In the NPDR subgroup subjects carrying the G allele had 1.53-fold higher risk of developing retinopathy. Similarly, in the PDR subgroup patients carrying the G allele showed almost twofold increased risk of PDR in a dominant model of inheritance.
Conclusion:
Our results demonstrate that in T2DM patients the EPO rs1617460 polymorphism is associated with significantly increased risk of developing DR. This finding can provide a new insight into the role of EPO gene in the pathophysiology of microvascular complications of diabetes.
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