American journal of respiratory and critical care medicine
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Am. J. Respir. Crit. Care Med. · Jan 2018
Airway Mucosal Host Defense is Key to Genomic Regulation of Cystic Fibrosis Lung Disease Severity.
The severity of cystic fibrosis (CF) lung disease varies widely, even for Phe508del homozygotes. Heritability studies show that more than 50% of the variability reflects non-cystic fibrosis transmembrane conductance regulator (CFTR) genetic variation; however, the full extent of the pertinent genetic variation is not known. ⋯ Transcriptomic analyses of CF airway epithelia, coupled to genomic (GWAS) analyses, highlight the role of heritable host defense variation in determining the pathophysiology of CF lung disease. The identification of these pathways provides opportunities to pursue targeted interventions to improve CF lung health.