TY - JOUR AU - Perotin, Jeanne-Marie AU - Polette, Myriam AU - Deslée, Gaëtan AU - Dormoy, Valérian PY - 2021 DA - 2021/02/27 TI - CiliOPD: a ciliopathy-associated COPD endotype JO - Respiratory Research SP - 74 VL - 22 IS - 1 AB - 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). SN - 1465-993X UR - https://doi.org/10.1186/s12931-021-01665-4 DO - 10.1186/s12931-021-01665-4 ID - Perotin2021 ER -