PloS one, 2017-08, Vol.12 (8), p.e0183526-e0183526
2017
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Details
- Autor(en) / Beteiligte
- Titel
- Transcriptomic profile of cystic fibrosis patients identifies type I interferon response and ribosomal stalk proteins as potential modifiers of disease severity
- Ist Teil von
- PloS one, 2017-08, Vol.12 (8), p.e0183526-e0183526
- Ort / Verlag
- United States: Public Library of Science
- Erscheinungsjahr
- 2017
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1932-6203eISSN: 1932-6203DOI: 10.1371/journal.pone.0183526Titel-ID: cdi_plos_journals_1933259252
- Format
- –
- Schlagworte
- Adolescent, Adult, Biology and Life Sciences, Child, Cystic fibrosis, Cystic Fibrosis - diagnosis, Cystic Fibrosis - genetics, Cystic fibrosis transmembrane conductance regulator, Female, Gene expression, Genes, Genomics, Genotype, Humans, Interferon, Interferon Type I - genetics, Lungs, Male, Medicine and Health Sciences, Mutation, Patients, Phenotype, Proteins, Pseudomonas aeruginosa, Research and analysis methods, Ribonucleic acid, Ribosomal Proteins - genetics, RNA, Severity of Illness Index, Studies, Transcriptome, Young Adult