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

Kormann, Michael S D; Dewerth, Alexander; Eichner, Felizitas; Baskaran, Praveen; Hector, Andreas; Regamey, Nicolas; Hartl, Dominik; Handgretinger, Rupert; Antony, Justin S (2017). Transcriptomic profile of cystic fibrosis patients identifies type I interferon response and ribosomal stalk proteins as potential modifiers of disease severity. PLoS ONE, 12(8), e0183526. Public Library of Science 10.1371/journal.pone.0183526

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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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine > Paediatric Pneumology

UniBE Contributor:

Regamey, Nicolas

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1932-6203

Publisher:

Public Library of Science

Language:

English

Submitter:

Romy Melanie Rodriguez Del Rio

Date Deposited:

31 Jan 2018 09:38

Last Modified:

04 Feb 2018 02:19

Publisher DOI:

10.1371/journal.pone.0183526

PubMed ID:

28846703

BORIS DOI:

10.7892/boris.109256

URI:

https://boris.unibe.ch/id/eprint/109256

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