Researchers Find Pulmonary Fibrosis and COPD Share a Common Genetic Network

Researchers at Yale School of Medicine, Boston University School of Medicine, and other institutions applied an integrative genomic approach to study chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) to uncover the possible shared biological mechanisms in the two disorders. Findings suggested a common genetic network to the two chronic lung conditions.

The research article, “Integrated Genomics Reveals Convergent Transcriptomic Networks Underlying COPD and IPF,” was published in the American Journal of Respiratory and Critical Care Medicine.

COPD and IPF share many risk factors, especially smoking, but have different effects on the lungs. COPD is characterized by the lack of repair leading to destruction of lung tissue, while IPF is characterized by an excess of repair — an excess of fibrotic or scar tissue, leading to excessive scarring and loss of lung function. Despite the common environmental exposure, the diseases are usually studied in isolation, so a possible common pathological mechanism is unknown.

Now, researchers defined the genetic expression repertoire in COPD, IPF, and in normal lungs, by applying an integrative genomic approach and RNA sequencing to identify common transcription pathways. Tissue samples were obtained from patients via the biorepository Lung Tissue Resource Consortium, at the National Heart, Lung and Blood Institute.

According to the results, in both emphysema (which is a type of COPD) and IPF tissues, certain genes in the p53/hypoxia pathway had an increased expression when compared to control samples.

“This may suggest that the network underlies the response to the environmental causes of IPF and COPD,” said Dr. Avrum Spira, co-corresponding author and a key collaborator on the project, in a press release. “It may also be relevant to lung cancer, a condition that is more common in patients with IPF or COPD.”

The study, part of the Lung Genomics Research Consortium funded by a National Heart, Lung, and Blood Institute grant, is the first large-scale transcriptomic study comparing chronic lung diseases, and may have implications for strategies applied to their treatment.

“We were able to identify a relatively large number of genes that behaved similarly in both diseases,” said study author Dr. Naftali Kaminski, chief of the Pulmonary, Critical Care, and Sleep Medicine section at Yale. “This finding may suggest that there are potential core mechanisms shared by IPF and emphysema, allowing for the development of interventions to target both diseases.”