University of Reims Champagne-Ardenne, Inserm, P3Cell UMR-S1250, SFR CAP-SANTE, CHU Maison Blanche, 45 rue Cognacq-Jay, 51092, Reims, France.
Department of Respiratory Diseases, CHU of Reims, Hôpital Maison Blanche, 51092, Reims, France.
Respir Res. 2021 Feb 27;22(1):74. doi: 10.1186/s12931-021-01665-4.
The pathophysiology of chronic obstructive pulmonary disease (COPD) relies on airway remodelling and inflammation. Alterations of mucociliary clearance are a major hallmark of COPD caused by structural and functional cilia abnormalities. Using transcriptomic databases of whole lung tissues and isolated small airway epithelial cells (SAEC), we comparatively analysed cilia-associated and ciliopathy-associated gene signatures from a set of 495 genes in 7 datasets including 538 non-COPD and 508 COPD patients. This bio-informatics approach unveils yet undescribed cilia and ciliopathy genes associated with COPD including NEK6 and PROM2 that may contribute to the pathology, and suggests a COPD endotype exhibiting ciliopathy features (CiliOPD).
慢性阻塞性肺疾病（COPD）的病理生理学依赖于气道重塑和炎症。黏液纤毛清除功能的改变是 COPD 的一个主要标志，其原因是结构和功能纤毛异常。我们使用全肺组织和分离的小气道上皮细胞（SAEC）的转录组数据库，比较分析了 7 个数据集（包括 538 名非 COPD 和 508 名 COPD 患者）中的一组 495 个基因中的与纤毛相关和纤毛病相关的基因特征。这种生物信息学方法揭示了与 COPD 相关的尚未描述的纤毛和纤毛病基因，包括 NEK6 和 PROM2，它们可能与病理有关，并提示了一种表现出纤毛病特征的 COPD 表型（CiliOPD）。
