[Genetic risk factors for chronic obstructive pulmonary disease (COPD)]

Cigarette smoking has been shown to be a major environmental risk factor predisposing to the development of chronic obstructive pulmonary disease (COPD). However, only 10-20% of cigarette smokers develop COPD, implying undue susceptibility compared with the remainder of the population at large. Studies of families and twins suggest that genetic factors also contribute to development of COPD. We review the genes which have been investigated as potential risk factors for COPD. The fully established genetic risk factor is only alpha 1-antitrypsin deficiency. Polymorphisms for the genes including alpha 1-antichymotrypsin, vitamin D-binding protein, microsomal epoxide hydrolase, cytochrome P450 1A1, Glutathione S-transferase and immunoglobulin A, have also been associated with the development of COPD. Other genetic factors are likely involved but have not yet been identified. Elucidation of additional genetic risk factors may provide useful insights into the pathogenesis of COPD. Potential interactions between the various environmental and genetic risk factors may be important determinants in development of COPD.