chapter  4
Genetics
Pages 18

Case reports of familial COPD were published in the 1950s,1 but interest in the role of genetic factors in COPD largely began with the discovery of severe alpha-1antitrypsin deficiency in 1963.2 Severe alpha-1-antitrypsin deficiency is the most important known genetic determinant of COPD; therefore, we will discuss the molecular and population genetics of alpha-1-antitrypsin deficiency in detail. In addition, we will review the evidence for genetic factors in non-alpha-1-antitrypsin deficiency COPD, including assessment of risk to relatives for COPD-related phenotypes and association studies with candidate gene polymorphisms. We will also discuss the application of animal models to identify potential genetic determinants of COPD.