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Alpha-antitrypsin genotypes in Korean patients with chronic obstructive pulmonary disease
Cited 10 time in
Web of Science
Cited 8 time in Scopus
- Authors
- Issue Date
- 2005-04-13
- Publisher
- Wiley-Blackwell
- Citation
- Respirology. 2005 Mar;10(2):223-8.
- Keywords
- Aged ; Aged, 80 and over ; Alleles ; Female ; Gene Frequency ; Genotype ; Humans ; Korea ; Male ; Middle Aged ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Pulmonary Disease, Chronic Obstructive/blood/*genetics/physiopathology ; Respiratory Function Tests ; alpha 1-Antitrypsin/analysis/*genetics ; Polymorphism, Genetic
- Abstract
- OBJECTIVE: Alpha1-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 alpha1-antitrypsin deficiency has been reported in Korea. This study aimed to clarify whether alpha1-antitrypsin deficiency exists and to determine the distribution of alpha1-antitrypsin alleles in the Korean population. METHODOLOGY: The serum concentrations of alpha1-antitrypsin were determined and polymorphisms of the alpha1-antitrypsin gene in 114 COPD patients and in 196 healthy controls were examined. Phenotyping by isoelectric focusing and the genotyping of alpha1-antitrypsin gene by polymerase chain reaction and restriction fragment length polymorphism were performed. RESULTS: No alpha1-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 alpha1-antitrypsin alleles were similar in the patient and control groups, and no S or Z allele was found. CONCLUSION: Alpha1-antitrypsin deficiency is unlikely to be an important cause of chronic obstructive pulmonary disease in the Korean population.
- ISSN
- 1323-7799 (Print)
- Language
- English
- URI
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=15823189
https://hdl.handle.net/10371/26502
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