WINSTON-SALEM, N.C. – Some people have a genetic variation that makes them more susceptible to chronic obstructive pulmonary disease (COPD) if they smoke tobacco, according to new research from Wake Forest University School of Medicine and colleagues.
“The genetic variant we studied seemed harmless on its own,” said Alireza Sadeghnejad, M.D., Ph.D., lead author. “But when someone has this variant, there is more of an adverse effect of smoking on lung function. Therefore, in combination with smoking, this genetic variant represents a risk factor for COPD.”
Emphysema and chronic bronchitis are components of COPD, which is the fourth leading cause of death in the U.S. and the only top-10 killer that is increasing in frequency. The World Health Organization predicts that by 2020, COPD will be the third-leading cause of death worldwide.
The study is published online and will appear in a future print issue of the American Journal of Respiratory and Critical Care Medicine. The researchers studied two variations (–1112C and –1112T) of the interleukin-13 (IL-13) gene. The gene is responsible for the production of the IL-13 protein that is involved in pulmonary inflammation and susceptibility to COPD.
Everyone has two copies of the gene, one inherited from each parent. The investigation suggests that having two copies of –1112T in the IL-13 gene is linked with a more profound adverse effect of cigarette smoking on lung function.
Study participants were 1,073 men at least 40 years old who had smoked 20 or more pack-years. One pack-year is equivalent to smoking one pack a day for a year. Participants underwent genetic testing and a pulmonary function test known as Forced Expiratory Volume, which is the volume of air that can be forced out in one second after taking a deep breath.
Jill Ohar, M.D., senior researcher and a professor of internal medicine-pulmonary, said it’s likely that –1112C/T is one of several genetic variants that influence the risk of a smoker developing COPD. About 25 percent of smokers develop the disease, suggesting that genetic factors, in addition to environmental exposure (in this case cigarette smoking), play a role.
“This finding may help us to understand why some smokers develop COPD and improve our understanding of how the disease develops,” said Ohar. “It shows us that it’s likely the gene/environment interaction sets you up for this disease.”
Sadeghnejad said that by understanding more about the role of IL-13 in COPD, the protein may one day be a target for new drugs for the disease.
The variant has been shown to be associated with asthma, which may help explain why COPD and asthma tend to cluster in families, Ohar said.
The research was supported by research funding from the Center for Human Genomics at Wake Forest University and the Salikoff Fund for the Environmental and Occupational Cancer Research, Saint Louis University.
The supervising researchers were Deborah A. Meyers, Ph.D., and Eugene R. Bleecker, M.D., co-directors of Center for Human Genomics, Wake Forest. Other co-researchers were Matteo Bottai, Ph.D., with the University of South Carolina, and David Sterling, Ph.D., with Saint Louis University in St. Louis, Mo.
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Wake Forest University Baptist Medical Center is an academic health system comprised of North Carolina Baptist Hospital and Wake Forest University Health Sciences, which operates the university’s School of Medicine. U.S. News & World Report ranks Wake Forest University School of Medicine 18th in primary care and 44th in research among the nation's medical schools. It ranks 35th in research funding by the National Institutes of Health. Almost 150 members of the medical school faculty are listed in Best Doctors in America.