New genetic markers have been found for chronic obstructive pulmonary disease (COPD), according to a large research study, which included more than 15,000 COPD patients. Some of the risk genes for COPD were found to have a protective role against pulmonary fibrosis, while others overlapped with the risk of asthma.
The study presenting the findings, ”Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis,” was published in the journal Nature Genetics.
“This is the first step in a longer process in which we hope to better understand the genetic basis for COPD, or what may be several different diseases that present as COPD,” Brian Hobbs, study’s lead author and a physician-researcher in the Channing Division of Network Medicine and Pulmonary and Critical Care Division of Brigham and Women’s Hospital (BWH), said in a press release.
COPD is the third leading cause of death in the U.S. and smoking seems to be the most important risk factor. However, our genes also play an important role for the development of the disease.
To stop smoking is very important for the general health, however, it might not be enough to fully prevent the disease, according to Dr. Michael Cho, one of the study’s senior authors. “Many patients with COPD experience self-blame, but they may be comforted to know that genetics does play a role in who ultimately develops the disease” Cho said.
Hobbs and his team are trying to get closer to the understanding of what causes the disease and how to best treat it.
They performed a genetic association study by searching for possible risk genes linked to the disease, and included genetic variants of 15,256 COPD patients and 47,936 controls. The top findings were further investigated in a second cohort (9,498 COPD patients and 9,748 controls).
The team found 13 new genetic risk variants for COPD. Four of them have not previously been linked to any kind of lung function trait, while the other nine are well-known for having important roles in lung function.
Interestingly, results also showed that carrying two of the risk gene variants (previously associated with pulmonary fibrosis) increased the risk of developing COPD, while they decreased the risk of developing pulmonary fibrosis, indicating that vulnerability to the first disease may protect against the latter. The team also found a genetic association between COPD and asthma.
Based on these findings, researchers may now be able to explore new biological pathways to improve therapies for these patients.
“Not only do the results build on our knowledge of COPD, but also reveal potential links with other lung diseases, like pulmonary fibrosis and asthma and can form the underpinnings of a precision medicine strategy for the treatment of more than one lung disease,” concluded Dr. James Kiley, director of the Division of Lung Diseases of the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health (NIH).