Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D Observational Study enrolled a longitudinal observational cohort of US patients with CF aged 6 years and older with at least 1 copy of the G551D mutation. 25425629

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation. 23457166

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor was approved by the Food and Drug Administration (FDA) to be taken orally at a dose of 150 mg twice a day in G551D CF patients older than 6 years. 22739718

2012

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 Clinical studies in patients with cystic fibrosis and G551D-CFTR showed that the group treated with ivacaftor had improved clinical outcomes. 25755212

2015

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 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 We generated G551D CF mice transgenically expressing the human CFTR gene in two tissue compartments previously demonstrated to mediate a CFTR-dependent inflammatory response: lung epithelium and alveolar macrophages. 11978765

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE In the era of personalised medicine, ivacaftor offers an effective and well-tolerated treatment for the clinical management of CF patients with the G551D mutation. 23457167

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Curcumin cross-linked two CF mutant channels (Delta F508 and G551D) as well as a variety of deletion constructs that lack the major cytoplasmic domains. 19740743

2009

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. 19734299

2009

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE In contrast, a CF-causing mutation that does not impair CFTR processing (G551D) had no effect on NBD1 dimerization. 12080183

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. 8605891

1996

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE We conclude that G551D- and G1349D-CFTR have distinct pharmacological profiles and speculate that drug therapy for CF is likely to be mutation-specific. 16311240

2006

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene. 1376182

1992

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) is a common cause of cystic fibrosis (CF). 21441077

2011

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 Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. 26996268

2017

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 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
0.900 GeneticVariation BEFREE Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D). 25363320

2015

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

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Interestingly, three CF samples for which one mutant allele remained undefined (deltaoff8/unknown or G551D/unknown) demonstrated no statistical difference in the level of sulfation as compared with matched non-CF controls (n= 3). 8675672

1995

dbSNP: rs75527207
rs75527207
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

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