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Differential Expressed Genes and Pathways Associated with Disease Severity In Siblings with Cystic Fibrosis
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  • İlksen Ekinci,
  • Mina Hızal,
  • Nagehan Emiralioğlu,
  • ugur ozcelik,
  • Ebru Yalcin,
  • Deniz Dogru,
  • Nural Kiper,
  • Didem Dayangaç-Erden
İlksen Ekinci
Hacettepe University Faculty of Medicine

Corresponding Author:[email protected]

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Mina Hızal
Hacettepe University Faculty of Medicine
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Nagehan Emiralioğlu
Hacettepe University Faculty of Medicine
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ugur ozcelik
Hacettepe University Faculty of Medicine
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Ebru Yalcin
Hacettepe University Faculty of Medicine
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Deniz Dogru
Hacettepe University Faculty of Medicine
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Nural Kiper
Hacettepe University Faculty of Medicine
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Didem Dayangaç-Erden
Hacettepe University Faculty of Medicine
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Abstract

Cystic fibrosis 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 and associated molecular pathways between mild and severe siblings with same genotype. We performed targeted real-time PCR 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. Inflammation-immune response related signaling pathways such as IL-17, NF-kappa B, TNF, NOD-like receptor signaling were identified. In the severe sibling with Class IV mutation; inflammation and immune response-related pathways were discovered. Also, AGE-RAGE and TLR signaling were found to be specific to Class IV group. Comparison of CF patients to non-CF control; showed that ICAM1 was up regulated whereas EZR, TNFRSF1A, HSPA1A were down regulated in patients. In addition, a significant positive correlation was determined between differentially expressed genes in AGE-RAGE, cytokine-cytokine receptor interaction, insulin resistance and hepatic involvement in CF patients. As a result of this study, differentially expressed genes and associated pathways 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.
09 Jul 2020Submitted to Pediatric Pulmonology
10 Jul 2020Submission Checks Completed
10 Jul 2020Assigned to Editor
16 Jul 2020Reviewer(s) Assigned
27 Aug 2020Review(s) Completed, Editorial Evaluation Pending
28 Aug 2020Editorial Decision: Revise Major
21 Sep 20201st Revision Received
22 Sep 2020Submission Checks Completed
22 Sep 2020Assigned to Editor
22 Sep 2020Reviewer(s) Assigned
06 Oct 2020Review(s) Completed, Editorial Evaluation Pending
07 Oct 2020Editorial Decision: Revise Minor
15 Oct 20202nd Revision Received
19 Oct 2020Submission Checks Completed
19 Oct 2020Assigned to Editor
19 Oct 2020Reviewer(s) Assigned
09 Nov 2020Review(s) Completed, Editorial Evaluation Pending
19 Nov 2020Editorial Decision: Revise Minor
26 Nov 20203rd Revision Received
27 Nov 2020Submission Checks Completed
27 Nov 2020Assigned to Editor
27 Nov 2020Reviewer(s) Assigned
14 Dec 2020Review(s) Completed, Editorial Evaluation Pending
17 Dec 2020Editorial Decision: Accept