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Aims <p>Our study aimed to evaluate the association between the erythropoietin gene rs1617640 polymorphism and diabetic retinopathy (DR) in diabetes patients.</p> Methods <p>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.</p> Results <p>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.</p> Conclusion <p>Our results demonstrate that in T2DM patients the <i>EPO</i> rs1617460 polymorphism is associated with significantly increased risk of developing DR. This finding can provide a new insight into the role of <i>EPO</i> gene in the pathophysiology of microvascular complications of diabetes.</p>

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The erythropoietin gene polymorphism (rs1617640) is associated with retinopathy in type 2 diabetes patients

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  • 发表日期：

    2026年2月25日

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  • Jolanta Szeliga-Krol,
  • Agata Betlejewska,
  • Monika Buraczynska,
  • Wojciech Zaluska

摘要

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.