Differentially expressed genes associated with disease severity in siblings with cystic fibrosis

Ekinci I. B., Hizal M., EMİRALİOĞLU N., Ozcelik U., Yalcin E., DOĞRU ERSÖZ D., ...More

Pediatric Pulmonology, vol.56, no.5, pp.910-920, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 56 Issue: 5
  • Publication Date: 2021
  • Doi Number: 10.1002/ppul.25237
  • Journal Name: Pediatric Pulmonology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.910-920
  • Keywords: CFTR gene, cystic fibrosis, genotype&#8208, phenotype correlation, modifier genes, CONGENITAL BILATERAL ABSENCE, LIVER-DISEASE, MANAGEMENT, DISORDERS, MUTATIONS, CHANNELS, 1A
  • Hacettepe University Affiliated: Yes


© 2020 Wiley Periodicals LLCCystic fibrosis (CF) is an autosomal recessive disease caused by CFTR gene mutations. Despite having the same mutation, CF patients may demonstrate clinical variability in severity and prognosis of the disease. In this study, we aimed to determine differentially expressed genes between mild and severe siblings with same genotype. We performed targeted real-time polymerase chain reaction based transcriptomic analysis of nasal epithelial cells obtained from two families with two siblings with Class II mutations (F508del/F508del) and (F508del/G85E), one family with three siblings with Class IV mutation (I1234V/I1234V). In severe siblings with Class II mutations, TNFRSF11A, KCNE1, STX1A, SLC9A3R2 were found to be up regulated. CXCL1, CFTR, CXCL2 were found to be down regulated. In the severe sibling with Class IV mutation; mainly genes responsible from complement and coagulation system were identified. Comparison of CF patients to non-CF control; showed that ICAM1 was up regulated whereas EZR, TNFRSF1A, HSPA1A were down regulated in patients. As a result of this study, differentially expressed genes responsible for clinical severity among affected siblings carrying the same mutation were identified. The results will provide an opportunity for the development of novel target molecules for treatment of disease.