■慢性鼻-鼻窦炎是儿童的常见疾病。CFTR的主要功能是维持鼻粘膜表面粘膜层的厚度。CFTR致病变异体可引起CFTR蛋白功能紊乱,诱发或加重慢性感染。然而,CFTR变种在中国人群中的携带状况尚不清楚.
■研究中国儿童CRS患者CFTR的频率和变异,分析CFTR变异与CRS的临床特征和易感性。
■对来自中国大陆地区的106名CRS儿童进行全外显子组测序,分析CFTR基因。CFTR变体,频率和临床资料进行总结和分析。
■共检测到31种CFTR变体,其中7个站点的携带率明显高于人口数据库。88例患者携带2个以上的变异。37人携带变异(MAF<0.05),其中91.89%有反复上呼吸道感染史,16人患有鼻息肉,5人患有支气管扩张,1例诊断为CF相关疾病。
■中国儿童CRS中CFTR变异体的携带率增加,变异率最高(MAF<0.05)是p.I556V,p.E217G,c.1210-12[T].携带多种CFTR变体,尤其是p.E217G,p.I807M,p.V920L和c.1210-12[T]可能导致对CRS的敏感性增加。CRS患者存在CF相关疾病。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.