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Cystic Fibrosis (CF) is the most common monogenic disease among people of Western European descent 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’. To identify genetic modifiers, we applied RNA-seq based transcriptomic analyses in CF patients with a mild and severe lung phenotype. Global gene expression and enrichment analyses revealed that genes of the type I interferon response and ribosomal stalk proteins are potential modifiers of CF related lung dysfunction. The results provide a new set of CF modifier genes with possible implications as new therapeutic targets for the treatment of CF.

plos one

Transcriptomic profile of cystic fibrosis patients identifies type I interferon response and ribosomal stalk proteins as potential modifiers of disease severity