Clinical and genetic markers of erythropoietin deficiency anemia in chronic kidney disease (predialysis) patients

Biomark Med. 2020 Aug;14(12):1099-1108. doi: 10.2217/bmm-2020-0205.

Abstract

Aim: To determine the clinical and genetic markers associated with erythropoietin deficiency anemia in predialysis individuals. Materials & methods: Patients were categorized into cases and control group. Demographic characteristics and clinical parameters were obtained from medical record review and serum EPO and ferritin were obtained with ELISA. HIF-1α (rs2057482), IL-1β (rs1143627) and EPO (rs1617640) gene polymorphism were genotyped. Results: Female gender, glomerular filtration rate, treatment with hematinics, anticoagulant and diuretic were strong predictors of EPO-deficient anemia in predialysis chronic kidney disease patients. Genetic polymorphism in the HIF-1α recessive model was associated with non-EPO-deficiency, followed by EPO recessive allele associated with low-serum erythropoietin and IL-1β recessive model with low hemoglobin level. Conclusion: EPO-deficiency anemia can be diagnosed more conveniently in the presence of biomarkers.

Keywords: EPO deficiency; EPO gene; HIF-1α; IL-1β; genetic polymorphism; predialysis; renal anemia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Anemia / genetics*
  • Anemia / metabolism*
  • Erythropoietin / blood
  • Erythropoietin / deficiency*
  • Erythropoietin / genetics
  • Female
  • Ferritins / blood
  • Genetic Markers
  • Glomerular Filtration Rate / physiology
  • Humans
  • Hypoxia-Inducible Factor 1, alpha Subunit / genetics
  • Interleukin-1beta / genetics
  • Male
  • Middle Aged
  • Renal Insufficiency, Chronic / complications*

Substances

  • EPO protein, human
  • Genetic Markers
  • HIF1A protein, human
  • Hypoxia-Inducible Factor 1, alpha Subunit
  • Interleukin-1beta
  • Erythropoietin
  • Ferritins