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The Erythropoetin rs1617640 Gene Polymorphism Associates with Hemoglobin Levels, Hematocrit and Red Blood Cell Count in Patients with Peripheral Arterial Disease.


ABSTRACT: BACKGROUND:Erythropoietin has a pivotal role in erythropoiesis and angiogenesis. A common polymorphism (rs1617640, A > C) in the promoter of the erythropoietin gene (EPO) has been associated with erythropoietin expression and microvascular complications of diabetes. We aimed to analyze the potential role of this polymorphism in the pathogenesis of peripheral arterial disease (PAD). METHODS:EPO genotypes and laboratory markers for erythropoiesis were determined in 945 patients with PAD. RESULTS:The minor EPO rs1617640 C-allele was associated in an allele-dose-dependent manner with hemoglobin levels (p = 0.006), hematocrit (p = 0.029), and red blood cell count (p = 0.003). In a multivariate linear regression analysis including conventional risk factors diabetes, sex, and smoking, EPO genotypes were furthermore associated with age at onset of PAD symptoms (p = 0.009). CONCLUSIONS:The EPO rs1617640 gene polymorphism affects erythropoiesis, leads to an earlier onset of PAD, and is a potential biomarker for the pathogenesis of this disease.

SUBMITTER: Renner W 

PROVIDER: S-EPMC7694227 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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The Erythropoetin <i>rs1617640</i> Gene Polymorphism Associates with Hemoglobin Levels, Hematocrit and Red Blood Cell Count in Patients with Peripheral Arterial Disease.

Renner Wilfried W   Kaiser Melanie M   Khuen Sebastian S   Trummer Olivia O   Mangge Harald H   Langsenlehner Tanja T  

Genes 20201104 11


<h4>Background</h4>Erythropoietin has a pivotal role in erythropoiesis and angiogenesis. A common polymorphism (rs1617640, A > C) in the promoter of the erythropoietin gene (EPO) has been associated with erythropoietin expression and microvascular complications of diabetes. We aimed to analyze the potential role of this polymorphism in the pathogenesis of peripheral arterial disease (PAD).<h4>Methods</h4>EPO genotypes and laboratory markers for erythropoiesis were determined in 945 patients with  ...[more]

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