Whole exome sequencing of bronchial epithelial cells reveals a genetic print of airway remodelling in COPD

The remodelling of the airways is a hallmark of chronic obstructive pulmonary disease but it is highly heterogeneous and erratically distributed in the airways. To assess the genetic print of remodelling in COPD, we performed a comparative whole-exome sequencing analysis on microdissected bronchial epithelia. Lung resections from 4 non-COPD and 3 COPD subjects (ex- and current smokers) were formalin-fixed paraffin-embedded. Non-remodelled and remodelled bronchial epithelia were isolated by laser microdissection. Genomic DNA was captured using Twist Human Core Exome Enrichment System and sequenced on Illumina. Characterizing the unique molecular print of airway remodelling in respiratory diseases may help uncover additional factors contributing to the epithelial dysfunction.