Acta diabetologica · 2026
The erythropoietin gene polymorphism (rs1617640) is associated with retinopathy in type 2 diabetes patients.
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Szeliga-Krol Jolanta, Betlejewska Agata, Buraczynska Monika, Zaluska Wojciech
Аннотация
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.
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.