The Contribution of the Airway Epithelial Cell to Host Defense in the Context of Cystic Fibrosis

The monogenic disease cystic fibrosis is characterized by dysfunctional CFTR, encoding a chloride- and bicarbonate channel expressed in epithelial cells. We have characterized modifying genes in cystic fibrosis by studying informative markers at 52 candidate genes that were derived from differential transcriptome analysis in patient's biosamples or heuristic reasoning in 101 CF families with a total of 171 F508del-CFTR homozygous subjects enrolled in the European Cystic Fibrosis twin and sibling study. Genotype-phenotype-association was tested for by comparing patient subsets with contrasting endophenotypes of c…