ABSTRACT

Cigarette smoking is clearly the major environmental determinant of COPD. However, interestingly, only a minority of chronic cigarette smokers develop COPD. This observation demonstrates that other factors are involved and there are epidemiological data to suggest that some of those factors are genetic. In this chapter, we will summarize the family and twin studies that indicate that there is a genetic basis to the development of airflow limitation. We then review the genes that have been investigated as potential susceptibility factors for COPD. In common with other complex genetic diseases, it is likely that several genes will be implicated in the pathogenesis of this COPD and that there will be an interaction with environmental factors such as cigarette smoke and air pollution.