Whole transcriptome analyis of human lung tissue to identify COPD-associated genes

Identification of the dysfunctional genes in human lung from patients with Chronic obstructive pulmonary disease (COPD) will help understand the pathology of this disease. Here, using transcriptomic data of lung tissue for 91 COPD cases and 182 matched healthy controls from the Genotype-Tissue Expression (GTEx) database. we identified 1359 significant differentially expressed genes (DEG) with 707 upregulated and 602 downregulated respectively. We evaluated the identified DEGs in an independent microarray cohort of 219 COPD and 108 controls, demonstrating the robustness of our result. Functional annotation of COPD-associated genes highlighted the activation of complement cascade, dysregulation of inflammatory response and extracellular matrix organization in the COPD patients. In addition, we identified several novel key-hub genes involved in the COPD pathogenesis using a network analysis method. To our knowledge, our analysis is currently the largest RNA-seq based COPD transcriptomic analyses, providing great resource for the molecular research in the COPD community.