COPD genetic research study needs 1,000 volunteers

SAN ANTONIO (Sept. 29, 2008)—The UT Health Science Center San Antonio and the South Texas Veterans Health Care System seek to enroll 1,000 current and former smokers in a genetic epidemiology study of chronic obstructive pulmonary disease (COPD), the fourth-leading cause of death in the U.S.

The institutions are part of the $35 million COPDGene™ research study funded by the National Heart, Lung, & Blood Institute. The study, which will enroll 10,500 Caucasians and African Americans at 12 sites nationwide, is designed to identify genetic abnormalities that predispose a person to COPD. The research will not focus on Hispanics, whose genes appear to protect them from the chronic disease.

Study participants will be between 45 and 80 years of age; COPD affects 1 in 4 Americans who are 45 and older.

“Anyone who has ever smoked would qualify; they don’t have to have lung disease,” said pulmonologist Antonio Anzueto, M.D., principal investigator of the San Antonio site and professor of medicine at the Health Science Center. “The rationale for this study is the fact that maybe something other than smoking can give you COPD.”

Unexplained differences
He said some people smoke very few packs yet develop very serious COPD, while others smoke a lot and develop very mild COPD. He also noted that the disease “appears to behave differently in African Americans,” who have a higher incidence of COPD that cannot be explained by health care disparities.

The team will use high-throughput technology to screen and identify the genetic anomalies.

An equal number of men and women will be recruited. Pregnant women are not eligible, nor are individuals who suffer from a respiratory disorder other than COPD or have a close relative already in the study.

Chronic lung disease
In COPD, small air sacs enlarge as they coalesce with surrounding sacs. This results in the lungs becoming hyperinflated with air that is difficult to expel. COPD is one of the leading causes of lung transplants.

The National Heart, Lung, & Blood Institute estimates that while 12 million people have been diagnosed with COPD in this country, an equal number have it and do not know it.

The study will enroll 6,000 people with COPD and 4,500 current and former smokers who do not have it. Participants will make two visits to the study center; out-of-town participants may have both visits scheduled for the same day.

Identification of problems
Each study volunteer will receive a state-of-the-art CT scan of the chest. Participants will answer questions about respiratory medical history, give a blood sample, take a breathing test and do a six-minute walk.

“We will send a copy of the breathing test and CT to the patient’s doctor, and if any abnormality is there, we will flag the doctor to do follow-up,” Dr. Anzueto said. “This is a very high-risk population, so it is a great way to screen for lung cancer or any abnormality in the lungs.”

Life-limiting condition
In 2007, the National Heart, Lung, & Blood Institute estimated that COPD costs the U.S. economy $32.7 billion per year in health care expenditures and indirect costs. “Out of chronic diseases, COPD has the highest amount of people missing work due to their disease, higher than heart disease, diabetes and cancer,” Dr. Anzueto said.

The COPDGene™ research study is one of the first studies of COPD to include a large contingent of African-American participants and is the largest study ever of the causes of COPD. It is to last 10 years at the sites, but the National Heart, Lung, & Blood Institute will call the participants once or twice a year after that to observe how COPD mechanisms evolve over time.

“Like the Framingham Heart Study or the San Antonio Heart Study, this multidisciplinary study will follow patients for life,” Dr. Anzueto said. “Increasing our knowledge of COPD genetics will yield the standard of care for the future.”



The University of Texas Health Science Center at San Antonio is the leading research institution in South Texas and one of the major health sciences universities in the world. With an operating budget of $668 million, the Health Science Center is the chief catalyst for the $15.3 billion biosciences and health care sector in San Antonio’s economy. The Health Science Center has had an estimated $35 billion impact on the region since inception and has expanded to six campuses in San Antonio, Laredo, Harlingen and Edinburg. More than 23,000 graduates (physicians, dentists, nurses, scientists and other health professionals) serve in their fields, including many in Texas. Health Science Center faculty are international leaders in cancer, cardiovascular disease, diabetes, aging, stroke prevention, kidney disease, orthopaedics, research imaging, transplant surgery, psychiatry and clinical neurosciences, pain management, genetics, nursing, dentistry and many other fields. For more information, visit

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