促红细胞生成素基因多态性与外周动脉疾病患者的血红蛋白水平、血细胞比容和红细胞计数相关。
The Erythropoetin Gene Polymorphism Associates with Hemoglobin Levels, Hematocrit and Red Blood Cell Count in Patients with Peripheral Arterial Disease.
机构信息
Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria.
Division of Endocrinology, Department of Internal Medicine, Medical University of Graz, 8036 Graz, Austria.
出版信息
Genes (Basel). 2020 Nov 4;11(11):1305. doi: 10.3390/genes11111305.
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 C-allele was associated in an allele-dose-dependent manner with hemoglobin levels ( = 0.006), hematocrit ( = 0.029), and red blood cell count ( = 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 ( = 0.009).
CONCLUSIONS
The EPO gene polymorphism affects erythropoiesis, leads to an earlier onset of PAD, and is a potential biomarker for the pathogenesis of this disease.
背景
促红细胞生成素在红细胞生成和血管生成中起着关键作用。促红细胞生成素基因（EPO）启动子中的常见多态性（rs1617640，A > C）与促红细胞生成素的表达和糖尿病的微血管并发症有关。我们旨在分析该多态性在周围动脉疾病（PAD）发病机制中的潜在作用。
方法
在 945 名 PAD 患者中确定了促红细胞生成素基因型和红细胞生成的实验室标志物。
结果
次要的 EPO C-等位基因与血红蛋白水平（= 0.006）、血细胞比容（= 0.029）和红细胞计数（= 0.003）呈等位基因剂量依赖性相关。在包括传统危险因素糖尿病、性别和吸烟在内的多变量线性回归分析中，EPO 基因型与 PAD 症状发病年龄（= 0.009）进一步相关。
结论
EPO 基因多态性影响红细胞生成，导致 PAD 发病更早，是该疾病发病机制的潜在生物标志物。
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