COPD is known to aggregate in families [3–5]. Although familial aggregation could be due to
environmental factors, there is considerable evidence in favour of a genetic basis for COPD.
Several investigators have shown increased prevalence of COPD in the relatives of cases,
compared with the prevalence of COPD in relatives of controls [4, 6–12]. The increased
prevalence could not be explained by differences in other known risk factors. In addition,
there is a higher correlation of lung function between parents and children or between …

Cigarette smoking is clearly the major risk factor for chronic obstructive pulmonary disease.
However, only a minority of cigarette smokers develops chronic obstructive pulmonary
disease, indicating that other factors are involved. Family and twin studies suggest that at
least some of those factors are genetic. This article reviews the genes investigated as
potential risk factors for this disease, focusing on the recent literature. The only established
genetic risk factor for chronic obstructive pulmonary disease is homozygosity for the Z allele …