Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Ivacaftor produces significant clinical benefit in patients with cystic fibrosis (CF) with the G551D mutation. 29037527

2018

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. 26996268

2017

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
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: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States. 25682022

2016

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE Alterations in blood leukocytes of G551D-bearing cystic fibrosis patients undergoing treatment with ivacaftor. 25769931

2016

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE The most common mutations in CFTR are a deletion of a phenylalanine residue at position 508 (ΔF508-CFTR, 70-80 % of CF phenotypes) and a Gly551Asp substitution (G551D-CFTR, 4-5 % of alleles), which lead to decreased or almost abolished Cl(-) channel function, respectively. 26874684

2016

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE The potentiator VX-770 (ivacaftor/KALYDECO™) targets defective gating of CFTR and has been approved for treatment of cystic fibrosis (CF) subjects carrying G551D, S1251N or one of 8 other mutations. 27160424

2016

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. 27402691

2016

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE In this study, we provide the first evidence that ivacaftor improves BMD in CF patients carrying the p.Gly551Asp mutation. 27745802

2016

dbSNP: rs75527207
rs75527207
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation BEFREE After several successful clinical trials the potentiator, ivacaftor, is now licenced for use in adults and children (>six years), with CF bearing the class III G551D mutation and FDA licence was recently expanded to include 8 additional class III mutations. 24932877

2015