SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis

Frontiers in Pharmacology
Harriet CorvolLoic Guillot

Abstract

Ivacaftor is a drug used to treat cystic fibrosis (CF) patients carrying specific gating CFTR mutations. Interpatient variability in the lung response has been shown to be partly explained by rs7512462 in the Solute Carrier Family 26 Member 9 (SLC26A9) gene. In an independent and larger cohort, we aimed to evaluate whether SLC26A9 variants contribute to the variability of the lung phenotype and if they influence the lung response to ivacaftor. We genotyped the French CF Gene Modifier Study cohort (n = 4,840) to investigate whether SLC26A9 variants were involved in the lung phenotype heterogeneity. Their influence in the response to ivacaftor was tested in the 30 treated patients who met the inclusion criteria: older than 6 years of age, percent-predicted forced expiratory volume measured in 1 s (FEV1pp) in the 3 months before treatment initiation ranging between 40 and 90%. Response to treatment was determined by the change in FEV1pp from baseline, averaged in 15-75 days, and the 1st-year post-treatment. We observed that SLC26A9 variants were not associated with lung function variability in untreated patients and that gain of lung function in patients treated with ivacaftor was similar to clinical trials. We confirmed that rs75...Continue Reading

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Citations

May 30, 2019·Pediatric Pulmonology·Shivanthan ShanthikumarSarath Ranganathan
Mar 11, 2020·Expert Review of Respiratory Medicine·Brianna C Aoyama, Peter J Mogayzel
Mar 7, 2020·The European Respiratory Journal·Catherine RangTom Kotsimbos
Mar 11, 2020·Frontiers in Pharmacology·Miquéias Lopes-Pacheco
Mar 17, 2020·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·C Raynal, H Corvol
Mar 7, 2021·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Alice C EastmanGarry R Cutting
Nov 18, 2019·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Alekh ParanjapyeHarriet Corvol
Mar 17, 2020·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·I Fajac, E Girodon
May 1, 2021·Journal of Clinical Medicine·Jamie DuckersFosca De Iorio
Jul 31, 2021·Journal of Experimental Pharmacology·Madalena C PintoMiquéias Lopes-Pacheco

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Methods Mentioned

BETA
genotyping
PCR

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SaKnorm
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