{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Saferali A"],"funding":["NIDDK NIH HHS","NHLBI NIH HHS","National Institutes of Health"],"pagination":["2101994"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9840463"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["60(2)"],"pubmed_abstract":["<h4>Introduction</h4>Loss-of-function variants in both copies of the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene cause cystic fibrosis (CF); however, there is evidence that reduction in CFTR function due to the presence of one deleterious variant can have clinical consequences. Here, we hypothesise that <i>CFTR</i> variants in individuals with a history of smoking are associated with chronic obstructive pulmonary disease (COPD) and related phenotypes.<h4>Methods</h4>Whole-genome sequencing was performed through the National Heart, Lung, and Blood Institute TOPMed (TransOmics in Precision Medicine) programme in 8597 subjects from the COPDGene (Genetic Epidemiology of COPD) study, an observational study of current and former smokers. We extracted clinically annotat"],"journal":["The European respiratory journal"],"pubmed_title":["<i>C</i> <i>FTR</i> variants are associated with chronic bronchitis in smokers."],"pmcid":["PMC9840463"],"funding_grant_id":["R01 HL133137","R01 HL137927","K01 HL157613","HHSN268201500014C","R01HL133137, R01HL149861, R01DK044003, R01HL130512","R01 HL149861","K01 HL129039","T32 HL007427","R01 HL120393","R01 HL117626","R01 HL130512","R01 HL157879","U01 HL120393","R01 DK044003","HHSN268201800001C","R01 HL089856","U01 HL089897","R01 HL135142","R01 HL147148","U01 HL089856"],"pubmed_authors":["Cho MH","Diaz AA","Levy H","Kim W","Raraigh K","Hersh CP","NHLBI TransOmics in Precision Medicine (TOPMed)","Saferali A","Qiao D","Cutting GR"],"additional_accession":[]},"is_claimable":false,"name":"<i>C</i> <i>FTR</i> variants are associated with chronic bronchitis in smokers.","description":"<h4>Introduction</h4>Loss-of-function variants in both copies of the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene cause cystic fibrosis (CF); however, there is evidence that reduction in CFTR function due to the presence of one deleterious variant can have clinical consequences. Here, we hypothesise that <i>CFTR</i> variants in individuals with a history of smoking are associated with chronic obstructive pulmonary disease (COPD) and related phenotypes.<h4>Methods</h4>Whole-genome sequencing was performed through the National Heart, Lung, and Blood Institute TOPMed (TransOmics in Precision Medicine) programme in 8597 subjects from the COPDGene (Genetic Epidemiology of COPD) study, an observational study of current and former smokers. We extracted clinically annotat","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-05-28T21:44:16.47Z","creation":"2024-11-15T11:29:58.927Z"},"accession":"S-EPMC9840463","cross_references":{"pubmed":["34996830"],"doi":["10.1183/13993003.01994-2021"]}}