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α 1 ‐Antitrypsin genotypes in Korean patients with chronic obstructive pulmonary disease
Author(s) -
KIM Cheol Hyeon,
YIM JaeJoon,
YOO ChulGyu,
LEE ChoonTaek,
KIM Young Whan,
HAN Sung Koo,
SHIM YoungSoo
Publication year - 2005
Publication title -
respirology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.857
H-Index - 85
eISSN - 1440-1843
pISSN - 1323-7799
DOI - 10.1111/j.1440-1843.2005.00693.x
Subject(s) - medicine , pulmonary disease , genotype , disease , genetics , gene , biology
Objective: α 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 α 1 ‐antitrypsin deficiency has been reported in Korea. This study aimed to clarify whether α 1 ‐antitrypsin deficiency exists and to determine the distribution of α 1 ‐antitrypsin alleles in the Korean population. Methodology: The serum concentrations of α 1 ‐antitrypsin were determined and polymorphisms of the α 1 ‐antitrypsin gene in 114 COPD patients and in 196 healthy controls were examined. Phenotyping by isoelectric focusing and the genotyping of α 1 ‐antitrypsin gene by polymerase chain reaction and restriction fragment length polymorphism were performed. Results: No α 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 α 1 ‐antitrypsin alleles were similar in the patient and control groups, and no S or Z allele was found. Conclusion: α 1 ‐Antitrypsin deficiency is unlikely to be an important cause of chronic obstructive pulmonary disease in the Korean population.