Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation. 31604026

2020

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE We report the results of an observational study investigating its effects in CF patients with non-G551D gating mutations. 29685811

2019

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Additive improvement in G551D CFTR-mediated Cl<sup>-</sup> secretion suggests that resveratrol could enhance ivacaftor therapy in these patients and improve CF-related rhinosinusitis. 30152192

2019

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor improves QOL in the R, P, and S domains in G551D CF patients, although QOL instruments validated for CRS may not translate well to CF CRS patients because symptom burden was surprisingly low. 30472785

2019

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Combined with the concentration-dependent decrease in sweat chloride concentration, results show that GLPG1837 increases CFTR activity in G551D-CF patients. 31147302

2019

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T). 30269055

2019

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Generally, p.Arg117His-5T patients had more severe CF disease. 30279124

2019

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report. 30975115

2019

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Here we describe a case of a patient with CF (R117H/7 T/F508del) who presented with recurrent pancreatitis who was effectively treated with ivacaftor in the absence of respiratory symptoms. 31296159

2019

dbSNP: rs80034486
rs80034486
0.900 GeneticVariation BEFREE Deletion of Phe<sup>508</sup> (ΔF508), the most prevalent mutation in CF, and other mutations in CFTR that impair its trafficking, such as N1303K, also led to quantitative and qualitative PTM changes that prevented the maturation of misfolded CFTR. 30600261

2019

dbSNP: rs80034486
rs80034486
0.900 GeneticVariation BEFREE Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject. 31776420

2019

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Recovery of lung function following a pulmonary exacerbation in patients with cystic fibrosis and the G551D-CFTR mutation treated with ivacaftor. 28651844

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Retrospective observational study of French patients with cystic fibrosis and a Gly551Asp-CFTR mutation after 1 and 2years of treatment with ivacaftor in a real-world setting. 28711222

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor produces significant clinical benefit in patients with cystic fibrosis (CF) with the G551D mutation. 29037527

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Although ivacaftor (VX-770) alone and ivacaftor in combination with lumacaftor (VX-809) improve lung function in CF patients with the Gly551Asp and del508Phe mutations, respectively, the effects of these drugs on the function of human CF macrophages are unknown. 29146575

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE For adults and children aged 6 years and older with CF due to gating mutations other than G551D or R117H, the guideline panel made a conditional recommendation for treatment with IVA. 29342367

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE In people with CF bearing G551D or R117H mutations, ivacaftor did not change the average ASL pH; however reductions in sweat Cl- concentration correlated with elevations of ASL pH. 30089726

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. 26996268

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This study analyzed plasma fatty acid levels and urine prostaglandin E metabolites (PGE-M) in 40 subjects with CF participating in the G551D observational (GOAL) study who demonstrated response to the medication by a significant decrease in sweat Cl levels. 27473897

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor. 27659740

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The potentiator ivacaftor (VX-770) is approved for treating CF patients with G551D and other gating mutations. 27707539

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This pilot study evaluated the effect of short- and long-term ivacaftor treatment on hyperpolarized <sup>3</sup>He-magnetic resonance imaging (MRI)-defined ventilation defects in patients with cystic fibrosis aged ≥12years with a G551D-CFTR mutation. 28132845

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Previous work indicates that ivacaftor improves cystic fibrosis transmembrane conductance regulator (CFTR) activity and lung function in people with cystic fibrosis and G551D-CFTR mutations but does not reduce density of bacteria or markers of inflammation in the airway. 28222269

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator ivacaftor (Kalydeco®) improves clinical outcome in G551D cystic fibrosis (CF) patients. 28445004

2017

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE We demonstrated that GCC agonism results in functional rescue of murine F508del/F508del and R117H/R117H Cftr and CFTR mutants in CF patient-derived intestinal spheres. 28978796

2017