The COPDGene™ Study aims to find inherited or genetic factors that make some people more likely than others to develop COPD. With the use of CT scans, the COPDGene™ Study also seeks to better classify COPD, and understand how the disease may differ from person to person. While it has been demonstrated that cigarette smoking can cause COPD, only a minority of smokers develop this debilitating disease, thus raising the question of genetic susceptibility.
Research is demonstrating that susceptibility to developing COPD may be caused by genes. Alpha-1 Antitrypsin Deficiency (AATD) is the most common known genetic risk factor for COPD, and the information retrieved from investigating AATD has led researchers to learn about the biological processes that lead to COPD. As many as 3% of individuals with COPD have undetected AATD.
It is also well known that not all smokers develop COPD, suggesting that there is a genetic basis. The COPDGene™ Study is finding the other genes that cause a susceptibility to developing the disease, and this groundbreaking study has the potential of changing how we know and treat COPD.
After 5 years, the COPDGene™ Study is now in its second phase. As part of the second phase of COPDGene™, all available cohort subjects are being returned for a second complete clinical visit, a second CT scan, and additional blood collection for genetic analysis and biomarkers to determine longitudinal changes in disease severity. A long-term goal is to achieve whole genome analysis on the entire cohort.