α1-antichymotrypsin mutations in patients with chronic obstructive pulmonary disease

Mutations in the alpha(1)-antichymotrypsin gene have been described which result in reduced levels of alpha(1)-antichymotrypsin in the serum. Previous studies have suggested that two of these mutations (Pro(227)-->Ala and Leu(55)-->Pro) predispose to chronic obstructive pulmonary disease (COPD). We have investigated the prevalence of these mutations in 168 COPD patients and 61 controls without airflow obstruction. The prevalence of the Pro(227)-->Ala mutation was 0.9% and it was not associated with impaired lung function. None of the subjects had the Leu(55)-->Pro mutation.