What is COPD?
COPD, or chronic obstructive pulmonary (PULL-mun-ary) disease, is a progressive disease that makes it hard to breathe. “Progressive” means the disease gets worse over time. COPD can cause coughing that produces large amounts of mucus (a slimy substance), wheezing, shortness of breath, chest tightness, and other symptoms.
Cigarette smoking is the leading cause of COPD. Most people who have COPD smoke or used to smoke. Long-term exposure to other lung irritants, such as air pollution, chemical fumes, or dust, also may contribute to COPD. In COPD, less air flows in and out of the airways because of one or more of the following:
- The airways and air sacs lose their elastic quality.
- The walls between many of the air sacs are destroyed.
- The walls of the airways become thick and inflamed (swollen).
- The airways make more mucus than usual, which tends to clog the airways.
Who is at Risk for Developing COPD?
COPD most often occurs in people 40 years of age and older who have a history of smoking. These can be individuals who are either current or former smokers. Although as many as 1 out of 6 individuals with COPD have never smoked, smoking does remain the most common cause of COPD and accounts for as many as 9 out of 10 COPD-related deaths.
What Does Genetic Epidemiology Mean?
Genetic epidemiology is the study of the role that genetic factors play in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors. Epidemiology in general is the study of factors affecting the health and illness of populations. It is considered a cornerstone methodology of public health research, and is highly regarded in evidence-based medicine for identifying risk factors for disease and determining optimal treatment approaches to clinical practice.
What Do Genes Have to Do with COPD?
Some people can smoke their whole lives and never develop COPD where others may only have a mild smoking history or history of exposure to other lung irritants and develop COPD. We believe the differences between people who develop COPD and those that don’t lie in a person’s individual genetic make up. By understanding what genes may be associated with the increased risk of developing COPD, we hope to develop treatments and therapies that will improve the lives of those suffering with COPD.
If an individual has never smoked or exposed their lungs to pollutants, they can still develop COPD. Alpha-1 Antitrypsin (AAT) deficiency is a proven but relatively rare genetic risk factor for emphysema. Alpha-1-related COPD is caused by a deficiency of the AAT protein in the bloodstream. Without the AAT protein in the bloodstream, white blood cells begin to harm the lungs and lung deterioration occurs. Because only a small fraction of people with COPD have ATT deficiency, and because COPD clusters in families, it is believed that there are other genetic predispositions to develope COPD. The COPDGene® Study aims to find out what other genetic factor are involved in the development of COPD.
How Do I Participate?
Recruitment has been completed, and new participants are no longer being accepted.