EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Proinflammatory cytokine, mainly IL-6, which are released by both tumor and immune cells, play a pivotal action in CRA etiopathogenesis: they promote alterations in erythroid progenitor proliferation, erythropoietin (EPO) production, survival of circulating erythrocytes, iron balance, redox status, and energy metabolism, all of which can lead to anemia. 30294279 2018
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The therapy for anemia evaluated in the most studies was erythropoietin-stimulating agents (77.7% of studies). 30100259 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The effectiveness of biosimilar epoetin alfa (Binocrit<sup>®</sup>, Sandoz) to correct anemia in lower-risk MDS patients has also been demonstrated in a retrospective, single-center, observational study. 31005849 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Despite specific therapy now available for anemia in CKD, clinical data accumulated in the last 2 decades suggests that there is a continued need for RBCT, which, we surmise, is due to underutilization of Erythropoietin Stimulating Agents (ESA) or clinical settings such as active bleed, bone marrow resistance such as myelofibrosis or infections where ESAs are ineffective. 31782127 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The 5'-flanking region of the human erythropoietin (Epo) gene contains a 0.14-kb sequence that is conserved in the Epo gene from mouse and located within a promoter that is activated under hypoxic conditions such as anemia. 8486613 1993
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Recombinant human erythropoietin (EPO), which is routinely used to treat the anaemia present in approximately 90% of dialysis-dependent patients with end-stage renal disease, may induce vascular dysfunction by reducing nitric oxide (NO) availability. 18204093 2008
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Compared to anti-EPO negative cases, anti-EPO positive patients had higher frequency of anemia (70.0% vs 34.9%, P=0.030), lower EPO concentrations (median 16.35 vs 30.65 mU/mL, P=0.005), and higher HCV RNA viral load (median 891.5X10<sup>3</sup> vs 367.5X10<sup>3</sup> IU/mL, P=0.016). 28603097 2017
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Positive side effects, like improvement on orthostatic hypotension symptoms and well-being sensation, contributing to confirm erythropoietin as a drug of choice to treat anaemia in amyloidosis TTR V30M. 18925459 2008
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The increase of anemia after OLT and the maintenance of a defective endogenous Epo production after liver transplantation excluded an inhibitory effect of the circulating TTR V30M on the Epo-producing cells. 17453623 2007
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Mice with targeted deletion of <i>Ncoa4</i> specifically in the erythroid compartment developed a pronounced anemia in the immediate postnatal stage, a mild hypochromic microcytic anemia at adult stages, and were more sensitive to hemolysis with higher requirements for the Hif2a-erythropoietin axis and extramedullary erythropoiesis during recovery. 30630985 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE To determine whether premature infants treated with erythropoietin (Epo) in the neonatal period for anemia had a lower incidence of bronchopulmonary dysplasia (BPD), defined as oxygen need at 36 weeks postmenstrual age, and lower rehospitalization rates in the first year of life than infants not exposed. 31374455 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE AS2553627 at the effective dose in rat transplantation models did not significantly reduce reticulocyte counts in peripheral whole blood after in vivo erythropoietin administration, indicating a low risk for anemia. 27993641 2017
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Considering the importance of anemia in hemodialysis patients and its complications, in this study, the effect of erythropoietin administration on blood parameters by comparing the methods of subcutaneous and intravenous administrations was investigated. 30783118 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Severe anaemia (<9 g/dl) occurred in 14 patients (25%), leading to RBV dose reduction (22%), erythropoietin use (56%) or blood transfusion (14%). 25650873 2015
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Here, we highlight vignettes connecting recent insights into a genome-wide association study linking an EPO mutation to anemia, a study linking EPO-signaling to signal transducer and activator of transcription 5 (STAT5) chromatin occupancy and enhancers, and studies that examine the molecular mechanisms driving topological chromatin organization in erythroid cells. 29389768 2018
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Therapy-resistant anaemia in congenital nephrotic syndrome of the Finnish type--implication of EPO, transferrin and transcobalamin losses. 19153070 2009
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Anemia is common in breast cancer patients and can be treated with blood transfusions or with recombinant erythropoietin (EPO) to stimulate red blood cell production. 28418910 2017
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Preterm infants have low plasma levels of erythropoietin (EPO), providing a rationale for the use of erythropoiesis-stimulating agents (ESAs) to prevent or treat anaemia and to provide neuro protection and protection against necrotising enterocolitis (NEC). 29145693 2017
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Overall, 66% of patients experienced anaemia, leading to frequent ribavirin dose reductions (42%) and erythropoietin use (37%); 11% received blood transfusion. 25218788 2015
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE In the present study, we investigated the associations between anemia and polymorphisms in EPO promoter (rs1617640), TNF-α G-308A and ACE Insertion/Deletion in Chinese patients with type 2 diabetes. 25656761 2015
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Anemia was the most common side effect (n = 55, 72%) requiring erythropoietin and RBV dose reduction. 25152985 2015
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Anaemia in TREX1 D18N mice is accompanied by increased erythropoietin (Epo), normal hepcidin levels and the TREX1 D18N mice display an inappropriate response to anaemic challenge. 30422000 2018
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Anemia is an important and common problem associated with chronic kidney disease (CKD), which is caused by erythropoietin deficiency, iron-restricted erythropoiesis, inflammation, hypoxia, vitamin D deficiency, hyperparathyroidism, and obesity. 28302014 2017
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Anemia is a well-known complication of advanced CKD and treatment with erythropoietin analogues (epoetin) remains a key component of management. 31477257 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Patients with severe symptomatic aortic stenosis and concomitant anaemia with an indication for TAVI were randomised (1:1) to receive two weight-based doses of EPO (darbepoetin alfa)+iron or placebo at days 10 (±4 days) and 1 (±1 day) pre TAVI. 28067195 2017