Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with CF and the G551D mutation.N. Engl.J.Med., 2011.365: 1663-1672.)]. 22914736

2012

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, is approved for the treatment of patients with cystic fibrosis aged 6 years or older with Gly551Asp-CFTR. 25311995

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE She was found to have a mutation in the SPINK1 gene, IVS3+184T>A, and one cystic fibrosis-causing mutation (G551D) prompting full gene sequencing of the CFTR, revealing an additional duplication of exon 19. 21673536

2011

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Extensive medicinal chemistry and iterative structure-activity relationship (SAR) studies to evaluate potency, selectivity, and pharmacokinetic properties resulted in the identification of N-(2,4-di-tert-butyl-5-hydroxyphenyl)-4-oxo-1,4-dihydroquinoline-3-carboxamide (VX-770, 48, ivacaftor), an investigational drug candidate approved by the FDA for the treatment of CF patients 6 years of age and older carrying the G551D mutation. 25441013

2014

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

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE It has been suggested that a mutation (G551D) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may play a role in nasal polyp formation in patients without CF. 10392242

1999

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 Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx. 25712891

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation. 23757359

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE One drug, ivacaftor, was recently approved by the US Food and Drug Administration for the approximately 4% of patients with CF who have the G551D gating mutation. 22723294

2012

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The CF-associated mutation G551D, by introducing a bulky and negatively charged side chain into site 2, completely abolishes ATP-induced openings of CFTR. 20861014

2010

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in patients with cystic fibrosis aged 6-11 years with a G551D-CFTR mutation on at least one allele. 23590265

2013

dbSNP: rs75527207
rs75527207
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
0.900 GeneticVariation BEFREE Several compounds, the most potent being a trifluoromethylphenylbenzamine, activated the CF-causing mutant G551D, but with much weaker affinity (K(d) > 10 microm). 12161441

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE STRIVE, a double-blind, placebo-controlled randomized trial, evaluated ivacaftor (150 mg) in CF patients aged 12+ with the G551D-CFTR mutation for 48 weeks. 26135562

2015

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 The marked success of ivacaftor both in clinical trials and in post-licensing evaluation studies in treating patients with G551D and other gating mutations has greatly encouraged the ongoing development of similar therapies that can directly target the underlying cause of CF. 26091951

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Patients with CF and G551D mutation, within 6 months of starting ivacaftor had significant improvements in weight, BMI and mean % FEV1. 25145599

2015

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: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The class III CF mutations G551D and G1349D are located within the "signature" sequence LSGGQ and LSHGH of NBD1 and NBD2, respectively. 15163550

2004

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor has been previously assessed in patients with cystic fibrosis with Gly551Asp-CFTR or other gating mutations. 26070913

2015

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 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
0.900 GeneticVariation BEFREE We conducted a randomized, double-blind, placebo-controlled trial to evaluate ivacaftor (VX-770), a CFTR potentiator, in subjects 12 years of age or older with cystic fibrosis and at least one G551D-CFTR mutation. 22047557

2011