RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE Sodium-glucose co-transporter (SGLT)-2 inhibitors have been shown to reduce the risk of cardiovascular death and heart failure (HF) hospitalization in patients with type 2 diabetes mellitus (DM) and high cardiovascular risk in two large clinical outcome trials: empagliflozin in EMPA-REG OUTCOME and canagliflozin in CANVAS. 31747132 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE Canagliflozin reduced the risk of heart failure among patients with type 2 diabetes in the CANVAS Program. 31676303 2020
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE The CANVAS Program randomized 10,142 participants with type 2 diabetes to canagliflozin or placebo. 31729107 2020
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE Sodium-glucose co-transporter (SGLT)-2 inhibitors have been shown to reduce the risk of cardiovascular death and heart failure (HF) hospitalization in patients with type 2 diabetes mellitus (DM) and high cardiovascular risk in two large clinical outcome trials: empagliflozin in EMPA-REG OUTCOME and canagliflozin in CANVAS. 31747132 2020
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE The purpose of this study was to explore potential mediators of the effects of canagliflozin on heart failure in the CANVAS Program (CANagliflozin cardioVascular Assessment Study; NCT01032629 and CANagliflozin cardioVascular Assessment Study-Renal; NCT01989754). 31676303 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 GeneticVariation disease BEFREE Sodium-glucose co-transporter (SGLT)-2 inhibitors have been shown to reduce the risk of cardiovascular death and heart failure (HF) hospitalization in patients with type 2 diabetes mellitus (DM) and high cardiovascular risk in two large clinical outcome trials: empagliflozin in EMPA-REG OUTCOME and canagliflozin in CANVAS. 31747132 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 GeneticVariation disease BEFREE The purpose of this study was to explore potential mediators of the effects of canagliflozin on heart failure in the CANVAS Program (CANagliflozin cardioVascular Assessment Study; NCT01032629 and CANagliflozin cardioVascular Assessment Study-Renal; NCT01989754). 31676303 2020
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE The aim of the present study was to investigate the generalizability of CVOTs on SGLT2i to Italian adults with T2DM; we estimated the proportions of this patient population who would be eligible for enrollment in EMPA-REG OUTCOME (empagliflozin), CANVAS (canagliflozin), DECLARE-TIMI 58 (dapagliflozin), and VERTIS-CV (ertugliflozin) studies. 31410779 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE To assess the eligibility of patients participating in DISCOVER (a 3-year, prospective, observational study program of 15 992 patients with type 2 diabetes [T2D] initiating a second-line glucose-lowering therapy across 38 countries) for four cardiovascular outcomes trials (CVOTs) of sodium-glucose cotransporter 2 inhibitors (CANagliflozin cardioVascular Assessment Study [CANVAS], Dapagliflozin effect on CardiovascuLAR Events trial [DECLARE-TIMI 58], EMPAgliflozin cardiovascular OUTCOME event trial [EMPA-REG OUTCOME], and eValuation of ERTugliflozin effIcacy and Safety CardioVascular outcomes trial [VERTIS-CV]). 31114700 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE Economic modelling of costs associated with outcomes reported for type 2 diabetes mellitus (T2DM) patients in the CANVAS and EMPA-REG cardiovascular outcomes trials. 30575426 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 GeneticVariation disease BEFREE PMPY costs avoided for heart failure were $2.72 for CANVAS and $1.32 for EMPA-REG. 30575426 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE Three CVOTs of various SGLT-2i (EMPA-REG OUTCOME, CANVAS and DECLARE-TIMI 58) enrolled markedly different patient populations in terms of ASCVD risk, but have demonstrated robust and consistent benefits in reduction of hospitalization for HF. 31081589 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE The three trials with sodium glucose co-transporter-2 inhibitors (SGLT-2i) (EMPA-REG OUTCOME with empagliflozin, CANVAS with canagliflozin and DECLARE with dapagliflozin) all revealed a robust and significant reduction in the hazard ratios of hospitalization for HF, from 27% to 35%, which remained consistent, significant and of similar magnitude regardless of the presence of a history of HF or established atherosclerotic cardiovascular disease. 30609236 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE Some studies on glucagon-like peptide-1 receptor agonists (liraglutide: LEADER trial; semaglutide: SUSTAIN-6 trial) found significant benefits for MACE, while treatment with sodium-glucose co-transporter-2 inhibitors (empagliflozin: EMPA-REG OUTCOME trial; canagliflozin: CANVAS trial) also significantly reduced MACE and reduced hospitalization for heart failure. 30091169 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.100 Biomarker disease BEFREE For major cardiovascular events (MACE), there is no class effect for SGLT-2 inhibitors, as the 7% reduction of MACE risk observed with dapagliflozin in the DECLARE trial was not significant; on the other hand, a class effect is evident for both heart failure and diabetic kidney disease, as in all four trials so far completed (EMPAREG-OUTCOME, CANVAS, DECLARE, CREDENCE) the risk of hospitalization for heart failure and progression of diabetic kidney disease was significantly reduced by all SGLT-2 inhibitors. 31337395 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 Biomarker disease BEFREE Some studies on glucagon-like peptide-1 receptor agonists (liraglutide: LEADER trial; semaglutide: SUSTAIN-6 trial) found significant benefits for MACE, while treatment with sodium-glucose co-transporter-2 inhibitors (empagliflozin: EMPA-REG OUTCOME trial; canagliflozin: CANVAS trial) also significantly reduced MACE and reduced hospitalization for heart failure. 30091169 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 GeneticVariation disease BEFREE PMPY costs avoided for heart failure were $2.72 for CANVAS and $1.32 for EMPA-REG. 30575426 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 Biomarker disease BEFREE Three CVOTs of various SGLT-2i (EMPA-REG OUTCOME, CANVAS and DECLARE-TIMI 58) enrolled markedly different patient populations in terms of ASCVD risk, but have demonstrated robust and consistent benefits in reduction of hospitalization for HF. 31081589 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 Biomarker disease BEFREE For major cardiovascular events (MACE), there is no class effect for SGLT-2 inhibitors, as the 7% reduction of MACE risk observed with dapagliflozin in the DECLARE trial was not significant; on the other hand, a class effect is evident for both heart failure and diabetic kidney disease, as in all four trials so far completed (EMPAREG-OUTCOME, CANVAS, DECLARE, CREDENCE) the risk of hospitalization for heart failure and progression of diabetic kidney disease was significantly reduced by all SGLT-2 inhibitors. 31337395 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 Biomarker disease BEFREE The three trials with sodium glucose co-transporter-2 inhibitors (SGLT-2i) (EMPA-REG OUTCOME with empagliflozin, CANVAS with canagliflozin and DECLARE with dapagliflozin) all revealed a robust and significant reduction in the hazard ratios of hospitalization for HF, from 27% to 35%, which remained consistent, significant and of similar magnitude regardless of the presence of a history of HF or established atherosclerotic cardiovascular disease. 30609236 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.100 GeneticVariation group BEFREE Folic acid deficiency, MTHFD1 rs2236225, MTHFR rs1801133, MTRR rs1801349 and RFC1 rs1051226 polymorphisms may be maternal risk factors of NTDs. 30867013 2019
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease BEFREE The CANVAS Program (Canagliflozin Cardiovascular Assessment Study) randomly assigned 10 142 participants with type 2 diabetes mellitus to canagliflozin or placebo. 29133604 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease BEFREE The CANVAS Program randomized 10 142 participants with type 2 diabetes and eGFR >30 mL/min/1.73 m<sup>2</sup> to canagliflozin or placebo. 29941478 2018