增加CFTR变异的流行率和对CRS的敏感性:基于中国儿童的现实研究
Yang Han1, Jinhao Zhao1, Wenjing Liu1
1Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
该研究发现,患有慢性鼻炎 (CRS) 的中国儿童中CFTR变异的携带率增加. 某些CFTR变异可能会增加对CRS和相关疾病的敏感性.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 慢性鼻炎 (CRS) 在儿童中很普遍.
- CFTR基因对于保持鼻粘膜健康至关重要.
- CFTR变异可能导致功能障碍,增加感染风险,但它们在中国儿童中患有CRS的状况尚不清楚.
研究的目的:
- 确定在被诊断患有CRS的中国儿童中CFTR变异的频率和类型.
- 分析CFTR变异与临床特征之间的关联,以及对CRS的敏感性.
主要方法:
- 全外体测序 (WES) 用于分析106名患有CRS的中国儿童的CFTR基因.
- 收集和分析CFTR变异数据,频率和相关的临床信息.
主要成果:
- 确定了31种CFTR变异;与人口数据库相比,7个地点的携带者率显著更高.
- 88名患者携带多种变异;37名患者 (MAF<0.05) 呈现高复发上呼吸道感染率 (91.89%),鼻 (16),支气管病 (5) 和CF相关疾病 (1).
结论:
- 在患有CRS的中国儿童中,CFTR变异载体率较高.
- 特定变种 (p.I556V,p.E217G,c.1210-12[T]) 是最常见的.
- 多个CFTR变异,特别是p.E217G,p.I807M,p.V920L和c.1210-12[T],可能会增加CRS的敏感性.
- 一些CRS患者出现了CF相关疾病.
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