Transcriptomic Profile of Cystic Fibrosis Patients identifies Type I Interferon response and Ribosomal stalk proteins as potential modifiers of disease severity. Homo sapiens

Cystic Fibrosis (CF) is the most common monogenic disease among Caucasians and caused by mutations in the CFTR gene. However, the disease severity is immensely variable even among patients with similar CFTR mutations due to the possible effect of ‘modifier genes’. Here, we applied RNA-seq based transcriptomic analysis to identify the modifier genes in CF patients with mild and severe lung phenotype. Our global gene expression and enrichment analyses identified that genes of the type I interferon response and ribosomal stalk proteins are potential modifiers of CF related lung dysfunction. The results provide new set of CF modifier genes with possible implications as new therapeutic targets for the treatment of CF.