Cystic fibrosis gene modifier SLC26A9 modulates airway response to CFTR-directed therapeutics

Hum Mol Genet. 2016 Oct 15;25(20):4590-4600. doi: 10.1093/hmg/ddw290.

Abstract

Cystic fibrosis is realizing the promise of personalized medicine. Recent advances in drug development that target the causal CFTR directly result in lung function improvement, but variability in response is demanding better prediction of outcomes to improve management decisions. The genetic modifier SLC26A9 contributes to disease severity in the CF pancreas and intestine at birth and here we assess its relationship with disease severity and therapeutic response in the airways. SLC26A9 association with lung disease was assessed in individuals from the Canadian and French CF Gene Modifier consortia with CFTR-gating mutations and in those homozygous for the common Phe508del mutation. Variability in response to a CFTR-directed therapy attributed to SLC26A9 genotype was assessed in Canadian patients with gating mutations. A primary airway model system determined if SLC26A9 shows modification of Phe508del CFTR function upon treatment with a CFTR corrector. In those with gating mutations that retain cell surface-localized CFTR we show that SLC26A9 modifies lung function while this is not the case in individuals homozygous for Phe508del where cell surface expression is lacking. Treatment response to ivacaftor, which aims to improve CFTR-channel opening probability in patients with gating mutations, shows substantial variability in response, 28% of which can be explained by rs7512462 in SLC26A9 (P = 0.0006). When homozygous Phe508del primary bronchial cells are treated to restore surface CFTR, SLC26A9 likewise modifies treatment response (P = 0.02). Our findings indicate that SLC26A9 airway modification requires CFTR at the cell surface, and that a common variant in SLC26A9 may predict response to CFTR-directed therapeutics.

MeSH terms

  • Aminophenols / metabolism*
  • Aminophenols / pharmacokinetics
  • Aminophenols / pharmacology
  • Aminophenols / therapeutic use
  • Antiporters / genetics*
  • Antiporters / metabolism
  • Canada
  • Cells, Cultured
  • Chloride Channel Agonists / metabolism
  • Chloride Channel Agonists / pharmacokinetics
  • Chloride Channel Agonists / pharmacology
  • Chloride Channel Agonists / therapeutic use
  • Cystic Fibrosis / drug therapy
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / metabolism*
  • Cystic Fibrosis / pathology
  • Cystic Fibrosis Transmembrane Conductance Regulator / agonists
  • Female
  • France
  • Genes, Modifier*
  • Genetic Association Studies
  • Humans
  • Lung / drug effects
  • Lung / metabolism*
  • Lung / pathology
  • Male
  • Models, Genetic
  • Patient Acuity
  • Pharmacogenomic Variants*
  • Polymorphism, Single Nucleotide
  • Precision Medicine
  • Quinolones / metabolism*
  • Quinolones / pharmacokinetics
  • Quinolones / pharmacology
  • Quinolones / therapeutic use
  • Sulfate Transporters

Substances

  • Aminophenols
  • Antiporters
  • CFTR protein, human
  • Chloride Channel Agonists
  • Quinolones
  • SLC26A9 protein, human
  • Sulfate Transporters
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • ivacaftor