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New Study Offers Insights on Genetic Indicators of COPD Risk

A recent study, titled “Human airway branch variation and chronic obstructive pulmonary diseaseappearing in the Proceedings of the National Academy of Sciences revealed that “genetic variations in the anatomy of the lungs could serve as indicators to help identify people who have low, but stable, lung function early in life.” These indicators may also help identify those who have a high risk of developing chronic obstructive pulmonary disease (COPD) to “smoke-induced decline in lung function.”

Although cigarette smoking most commonly causes COPD, some smokers never develop the condition while many non-smokers do. The study sheds light into the occurrence, as researchers have discovered a link between “genetically programmed airway tree variation” and an increased rate of COPD among older adults.

"This work raises many interesting questions for researchers. 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 National Heart, Lung, and Blood Institute Division of Lung Diseases. "This novel study suggests that a Computerized Tomography (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."

Researchers initially believed that COPD develops later in life resulting from “prolonged exposure to cigarette smoke or air pollution, which accelerates the decline in lung function.” Yet, recent studies show that instead of experiencing an accelerated decline in lung function, “many older adults with COPD had low lung function early in life and experienced the normal lung function decline associated with aging.”

"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 first 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."

The researchers suggest that more research is needed to confirm that patients’ outcomes can be improved with “preventive or therapeutic interventions based on the presence of airway tree variations.”

Although there may be developmental events involved that may occur within families, the team will continue to determine whether a genetic basis exists for this variant. If proven, it would “represent a novel mechanism of COPD among non-smokers." In the meantime, however, the researchers emphasized that smoking cessation remains the best measure to prevent the occurrence of COPD.

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