Familial Predisposition to Chronic Obstructive Pulmonary Disease

The role of cigarette smoking in development of chronic obstructive pulmonary disease (COPD) is well known, however only in about 20% of smokers clinical disease was diagnosed. It points to additional factors which influence the sensitivity to tobacco products. Familial clustering of COPD has been observed and genetic deficiency of alfa 1 antitrypsine with ZZ phenotype was proved to be a factor responsible for the early onset of this disease. However only 3% of COPD patients have this deficiency. The role of MZ phenotype of alfa 1 antitrypsine in the development of COPD and in the rate of decline of lung function were discussed. Association studies concerning the polymorphisms of “candidate genes” connected with pathophysiology of COPD were presented. Although some of those studies have shown the role of polymorphism of those genes in COPD, the results are not always reproducible. This may be due to small available population samples with poorly defined COPD phenotype. It is concluded that COPD is a complex disease influenced by multiple genes and environmental factors.