Scientists seek genetic clues to emphysema and chronic bronchitis

DENVER - We have all heard people downplay the dangers of smoking by describing the friend or relative who has smoked three packs a day for 25 years and is still healthy as an ox. It's true that some smokers are lucky enough to escape serious lung disease. But it is also true that approximately one quarter of all smokers eventually develop emphysema and/or chronic bronchitis, collectively known as chronic pulmonary obstructive disease (COPD). Researchers at National Jewish Medical and Research Center are trying to learn what separates the smokers who stay healthy from the ones who develop COPD. They believe the answers lie in the smokers' genes.

"We believe a person's genes cause them to produce a protein that protects their lungs against smoke-induced damage, or one that makes them more susceptible to damage by smoke," said National Jewish pulmonologist Barry Make, M.D. "We are looking for genetic differences between people who appear susceptible to COPD and those who are not."

Dr. Make and his colleagues at National Jewish are joining researchers at nine other medical centers around the world in the largest study ever aimed at understanding the genetics of COPD. Discovery of genes associated with COPD could lead to better understanding of the disease, potentially new treatments and better warnings for susceptible people. The National Jewish research team is currently enrolling patients in the study, which is funded by GlaxoSmithKline.

The National Jewish research team is hoping to enroll as many as 600 families in its COPD genetics study. The researchers are looking for people between the ages of 45 and 65 who have been diagnosed with COPD and have either one living brother or sister who has also been diagnosed with COPD, or two siblings who smoke or have smoked in the past. The original COPD patient and his or her brother and/or sisters will all become part of the study.

Study participants will be asked to fill out a family questionnaire, give a blood sample, and take a breathing test. In addition, some study participants will receive a special x-ray called a high-resolution CT scan of their chests. The researchers will be able to conduct the study in participants' homes if they cannot come to National Jewish in Denver. Participants will receive $50 for the one to two hours they will spend participating in the study. DNA will be extracted from the blood samples, and will be analyzed along with the family and clinical history of the family members to search for any genes associated with COPD. Anyone wishing to be considered for participation in the study should contact Janet Jenkins at (303) 398-1760.

More than 16 million Americans have COPD. Approximately 100,000 people in the United States and nearly three million around the world die of COPD every year. A person with COPD may have either emphysema or chronic bronchitis, but many have both. Emphysema involves damage to the air sacs (alveoli) in the lungs, which reduces the lungs' ability to transfer oxygen into the blood. Shortness of breath with activity is the first symptom that most people with emphysema experience. People often lose 50 to 70 percent of their lung tissue by the time they experience the first symptoms. People with chronic bronchitis, also know as smoker's cough, have a chronic cough and mucus production. At this time there is no known cure for COPD. However, there are several treatment options that can improve a person's quality of life and slow the progression.

National Jewish Medical and Research Center is a global leader in the treatment and research of lung, allergic and immune diseases. For more information about National Jewish, call LUNG LINE, at (800) 222-LUNG, or e-mail [email protected].