ReviewInternational journal of laboratory hematology2019
Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.
Review in International journal of laboratory hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Personalized Therapeutic Advances in Erythropoietin Signaling: From Anemia Management to Extensive Clinical Applications.Pharmaceutics · 2025Review
- Identification of EPOR and JAK2 double heterozygous variants in twin cases with familial erythrocytosis.Science China. Life sciences · 2025Article
- [Progress in multiomics research on high altitude polycythemia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Review
- Expression and Variations inAnimals : an open access journal from MDPI · 2024Article
- Article
- Beta-Sitosterol Promotes Milk Protein and Fat Syntheses-Related Genes in Bovine Mammary Epithelial Cells.Animals : an open access journal from MDPI · 2021Article
- Erythrocytosis: genes and pathways involved in disease development.Blood transfusion = Trasfusione del sangue · 2021Review
- Review
- Review
- Molecular Insights into the Oxygen-Sensing Pathway and Erythropoietin Expression Regulation in Erythropoiesis.International journal of molecular sciences · 2021Review
- Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis-associated genes in the Slovenian family with idiopathic erythrocytosis.Journal of clinical laboratory analysis · 2021Article
- [A case of familial erythrocytosis type 2 caused by VHL gene mutation].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2020Article
- Hypoxia Pathway Proteins are Master Regulators of Erythropoiesis.International journal of molecular sciences · 2020Review
- Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders.BMC medical genetics · 2020Article
- Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.International journal of hematology · 2019Article
- Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.Blood reviews · 2019Review
- Genetic variants of erythropoietin (EPO) and EPO receptor genes in familial erythrocytosis.International journal of laboratory hematology · 2019Review
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
objectivesErythrocytosis is characterized by the expansion of erythrocyte compartment including elevated red blood cell number, hematocrit, and hemoglobin content. Familial erythrocytosis (FE) is a congenital disorder with different genetic background. Type 1 FE is primary FE caused by mutation in erythropoietin receptor gene (EPOR). Type 2-5 FE are secondary FEs caused by mutations of genes involved in oxygen sensing pathway important for erythropoietin (EPO) regulation. In the present study, we summarized associations between EPOR and EPO gene variations with development of FE and searched for genetic variants located within regulatory regions.
methodsPublications reporting EPOR and EPO sequence variants associated with FE or clinical features of erythrocytosis were retrieved from PubMed and WoS. In silico, sequence reanalysis was performed using Ensembl genomic browser, release 89 to screen for variants located within regulatory regions.
resultsTo date, 28 variants of the EPOR and seven variants of the EPO gene have been associated with erythrocytosis or upper hematocrit. Sequence variants were also found to be present within regulatory regions.
conclusionsRole of variants in regulatory regions of the EPO gene should be further investigated.
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