α1-Antitrypsin genotypes in Korean patients with chronic obstructive pulmonary disease

Objective: alpha(1)-Antitrypsin (AAT) deficiency is a recognized susceptible factor for chronic obstructive pulmonary disease (COPD) in Western countries, but its importance in Korea is unclear. To date, no definitive case of alpha(1)-antitrypsin deficiency has been reported in Korea. This study aimed to clarify whether alpha(1)-antitrypsin deficiency exists and to determine the distribution of alpha(1)-antitrypsin alleles in the Korean population. Methodology: The serum concentrations of alpha(1)-antitrypsin were determined and polymorphisms of the alpha(1)-antitrypsin gene in 114 COPD patients and in 196 healthy controls were examined. Phenotyping by isoelectric focusing and the genotyping of alpha(1)-antitrypsin gene by polymerase chain reaction and restriction fragment length polymorphism were performed. Results: No alpha(1)-antitrypsin level abnormality was found in the patients. M1(Val)/M1(Val) was found to be the most frequent genotype in both groups (69.2% and 66.8%, respectively), and M1 (Val) the most frequent allele. The distributions of alpha(1)-antitrypsin alleles were similar in the patient and control groups, and no S or Z allele was found. Conclusion: alpha(1)-Antitrypsin deficiency is unlikely to be an important cause of chronic obstructive pulmonary disease in the Korean population.