Erythropoietin single nucleotide polymorphisms are associated with anemia and dyslipidemia in a cardiovascular disease population

Human erythropoietin (EPO) is an essential erythropoietic cytokine and recombinant biological therapeutic in anemia in chronic kidney disease. Single nucleotide polymorphisms (SNPs) in EPO have been linked to anemia and diabetic microvascular complications but no other cardiovascular comorbidities like dyslipidemia or hypertension. Here identified a clinical cohort of cardiovascular patients with anemia, dyslipidemia, hypertension, type-2 diabetes, or heart failure with preserved ejection fraction. Sanger sequencing was used for genotyping three EPO SNPs (rs1617640, rs507392 and rs551238), which were compared to clinical outcomes with SNPstat and clinical parameters profiles by student t-test. Nonstandard clinical chemistry measures of plasma EPO, hepcidin, transferrin, and ferritin were determined by ELISA. In the additive model, the C allele of rs1617640 was associated with lower EPO and anemia. In the recessive model, the SNP rs507392 genotype of GG was associated with dyslipidemia, which was associated with lower EPO in plasma and elevated total cholesterol and low-density lipoproteins. Interestingly, the G allele of rs507392 was found to be associated with hypertension, but only in females. Here we show that the SNPs in EPO are a potential risk factor for anemia, dyslipidemia, and hypertension in cardiovascular disease patients.