New COPD genetic breakthrough could identify at risk patients earlier on

According to a recent National Institutes of Health (NIH) press release, new research suggests that genetic variations in the lungs can differentiate between individuals who have stably low lung function early in life (that steadily declines with age) versus those who are at risk for chronic obstructive pulmonary disease (COPD) due to smoking.  

The study, which has been published in this month's Proceedings of the National Academy of Sciences, shows a "genetically programmed airway tree variation" adds to having a higher chance of developing COPD in older adults. According to recent NIH statistics, COPD is the fourth leading cause of death in the U.S., with currently 16 million people diagnosed with the progressive disease.  

“Understanding precisely why these genes influence the development of COPD may lead to entirely new and more effective ways of preventing or treating this disease,” said James Kiley, M.D., director of the NHLBI Division of Lung Diseases, in the press release. “This novel study suggests that a CT scan, which is widely available, can be used to measure airway structure and predict who is at higher risk for smoke-induced lung injury.” 

Airway tree variations in the lungs can be identified on low dose CT scans, especially for detecting lung cancer in older patients who have a history of smoking for longer than a decade. However, according to the press release, additional research will be needed to ensure that preventive or therapeutic solutions will actually improve COPD patient outcomes.  

“In the current study, we found that central airway branches of the lungs, which are believed to form early in life, do not follow the textbook pattern in one quarter of the adult population and these non-textbook variations in airway branches are associated with higher COPD prevalence among older adults,” said the study’s lead author Benjamin M. Smith, M.D. M.S., assistant professor at Columbia University Medical Center. “Interestingly, one of the airway branch variants was associated with COPD among smokers and non-smokers. The other was associated with COPD, but only among smokers.” 

Family history, researchers found, also plays a significant role in the development of airway tree variations in the lungs of non-smokers who have COPD. Smith explained that his team is currently looking into whether there is any further genetic basis to support this finding, which if proven, would represent a "novel mechanism of COPD among non-smokers."