%0 Journal Article
%T Increased prevalence of CFTR variants and susceptibility to CRS: A real-world study based on Chinese children.
%A Han Y
%A Zhao J
%A Liu W
%A Yang X
%A Zhang W
%A Xiao X
%A Liu X
%A Chen X
%A Tang L
%A Wang P
%A Ge W
%J Heliyon
%V 10
%N 7
%D 2024 Apr 15
%M 38590877
%F 3.776
%R 10.1016/j.heliyon.2024.e27681
%X <B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.<BR><B>UNASSIGNED: </B>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.