Yi-Hui Zhou, Paul J Gallins, Rhonda G Pace, Hong Dang, Melis A Aksit, Elizabeth E Blue, Kati J Buckingham, Joseph M Collaco, Anna V Faino, William W Gordon, Kurt N Hetrick, Hua Ling, Weifang Liu, Frankline M Onchiri, Kymberleigh Pagel, Elizabeth W Pugh, Karen S Raraigh, Margaret Rosenfeld, Quan Sun, Jia Wen, Yun Li, Harriet Corvol, Lisa J Strug, Michael J Bamshad, Scott M Blackman, Garry R Cutting, Ronald L Gibson, Wanda K O'Neal, Fred A Wright, Michael R Knowles
RATIONALE: Lung disease is the major cause of morbidity and mortality in persons with cystic fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR genetic influence. Identification of genetic modifiers has prognostic and therapeutic importance. OBJECTIVES: Identify genetic modifier loci and genes/pathways associated with pulmonary disease severity. METHODS: Whole genome sequencing (WGS) data on 4,248 unique pwCF with pancreatic insufficiency (PI) and lung function measures were combined with imputed genotypes from an additional 3,592 PI patients from the US, Canada, and France...
March 15, 2023: American Journal of Respiratory and Critical Care Medicine