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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 (FEV 1pp ) in the 3 months before treatment initiation ranging between 40 and 90%. Response to treatment was determined by the change in FEV 1pp  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 rs7512462 was associated with variability in ivacaftor-lung response, with a significant reduction in lung function improvement for patients with the C allele. Other  SLC26A9  SNPs also contributed to the ivacaftor-response. Interindividual variability in lung response to ivacaftor is associated with  SLC26A9  variants in French CF patients. Pharmacogenomics and personalized medicine will soon be part of CF patient care.

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