Gene Mutations for Cystic Fibrosis and Predisposition to Chronic
Rhinosinusitis in Chinese Children
Abstract
Background: Chronic Rhinosinusitis (CRS) is a common disease in
children. In recent years, a new airway epithelial ionocyte has been
discovered and is closely related to the expression of cystic fibrosis
transmembrane conductance regulator (CFTR), which provides new ideas for
the study of the mechanism of CRS. However, the carrying status of the
CFTR mutant gene in the Chinese population is not clear. Objective: To
study the frequency and mutations of CFTR and FOXI1 (ForkheadBoxI1) in
Chinese children with CRS, and to analyze whether they are predisposed
to CRS. Methods: A controlled case study was conducted from 2020 to
2021. The CFTR and FOXI1 genomes of 46 children with CRS and 23 children
with no history of CRS from the Chinese mainland area were sequenced,
and the relationship between mutation rate and the disease were
analyzed. Results: 13 CFTR gene mutation sites’ carrying rate in the CRS
group was higher than the control group, and 2 of them was significantly
higher than that in the East Asian population database. The children who
had a history of recurrent upper respiratory tract infection carried
CFTR gene mutations associated with the pathogenesis. There was no
difference in the carrying of FOXI1 mutation between the two groups.
Conclusion: The incidence of CF mutation is higher in Chinese children
with CRS who have no history of Cystic Fibrosis (CF).
c.650A> G (p.E217G) and c.1950C> A (P. F 650
L) and may play a role in the development of CRS conditions in children
in China.