{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9"],"submitter":["Mercier J"],"pubmed_abstract":["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 a"],"journal":["Frontiers in molecular biosciences"],"pagination":["850261"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8965518"],"repository":["biostudies-literature"],"pubmed_title":["SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity <i>via</i> mTOR and Epithelial Repair Modulation."],"pmcid":["PMC8965518"],"pubmed_authors":["Longchampt E","Ruffin M","Kicic A","Boelle PY","Sage E","Corvol H","Guillot L","Sutanto E","Mesinele J","Mercier J","Calmel C","Merabtene F"],"additional_accession":[]},"is_claimable":false,"name":"SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity <i>via</i> mTOR and Epithelial Repair Modulation.","description":"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 a","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2026-04-08T17:32:00.587Z","creation":"2025-04-04T11:31:52.326Z"},"accession":"S-EPMC8965518","cross_references":{"pubmed":["35372502"],"doi":["10.3389/fmolb.2022.850261"]}}