ABSTRACT
Background:
Chronic
Rhinosinusitis is a common
disease in
children. The main function of CFTR is to maintain the thickness of the mucous layer on the surface of the
nasal mucosa. CFTR
disease-causing variant can cause
CFTR protein dysfunction and induce or aggravate
chronic infection. However, the
carrying status of the CFTR variants in the
Chinese population is not clear.
Objective:
To study the frequency and variants of CFTR in
Chinese children with CRS and to analyze the CFTR variants and the clinical characteristics and susceptibility to CRS.
Methods:
Whole Exome Sequencing was performed to analyze the CFTR
genes in a total of 106 CRS
children from the
Chinese mainland area. The CFTR variants, frequency and clinical data were summarized and analyzed.
Results:
A total of 31 CFTR variants were detected, of which the
carrying rate of 7 sites was significantly higher than that of the
population database. 88
patients carried more than 2 variants. 37 people carried variants (MAF < 0.05), of which 91.89% had a
history of recurrent
upper respiratory infections, 16 had
nasal polyps, 5 had
bronchiectasis, and 1 was diagnosed with CF-related disorders.
Conclusion:
The
carrying rate of CFTR variants in
Chinese CRS
children increased, and the highest rates of variants (MAF < 0.05) are p.I556V, p. E217G, c.1210-12[T].
Carrying multiple CFTR variants, especially p.E217G, p.I807 M, p.V920L and c.1210-12[T] may
lead to increased susceptibility to CRS. There are CF-related disorders in
patients with CRS.