biostudies-literatureUnknown9Mercier JCystic fibrosis (CF), due to pathogenic variants in <i>CFTR</i> gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same <i>CFTR</i> variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria <i>Pseudomonas aeruginosa</i>. In this study, we investigated whether the single nucleotide polymorphism (SNP) rs3788766, located within <i>SLC6A14</i> promoter, is associated with lung disease severity in a large French cohort of pwCF. We also studied the consequences of this SNP on <i>SLC6A14</i> promoter activity using aFrontiers in molecular biosciences850261https://www.ebi.ac.uk/biostudies/studies/S-EPMC8965518biostudies-literatureSLC6A14 Impacts Cystic Fibrosis Lung Disease Severity <i>via</i> mTOR and Epithelial Repair Modulation.PMC8965518Longchampt ERuffin MKicic ABoelle PYSage ECorvol HGuillot LSutanto EMesinele JMercier JCalmel CMerabtene FfalseSLC6A14 Impacts Cystic Fibrosis Lung Disease Severity <i>via</i> mTOR and Epithelial Repair Modulation.Cystic fibrosis (CF), due to pathogenic variants in <i>CFTR</i> gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same <i>CFTR</i> variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria <i>Pseudomonas aeruginosa</i>. In this study, we investigated whether the single nucleotide polymorphism (SNP) rs3788766, located within <i>SLC6A14</i> promoter, is associated with lung disease severity in a large French cohort of pwCF. We also studied the consequences of this SNP on <i>SLC6A14</i> promoter activity using a2022-01-01T00:00:00Z20222026-04-08T17:32:00.587Z2025-04-04T11:31:52.326ZS-EPMC89655183537250210.3389/fmolb.2022.850261