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Association Analysis of MUC5AC Promoter Polymorphism with Asthma  

Han, Seon-Sook (Department of Internal Medicine, College of Medicine, Kangwon National University)
Sung, Ji Hyun (Department of Molecular and Cellular Biochemistry, College of Medicine, Kangwon National University)
Lee, Mi-Eun (Clinical Research Institute of Kangwon National University Hospital)
Lee, Seung-Joon (Department of Internal Medicine, College of Medicine, Kangwon National University)
Lee, Sung Joon (Department of Internal Medicine, College of Medicine, Kangwon National University)
Kim, Woo Jin (Department of Internal Medicine, College of Medicine, Kangwon National University)
Publication Information
Tuberculosis and Respiratory Diseases / v.63, no.3, 2007 , pp. 235-241 More about this Journal
Abstract
Background: Airway mucus hypersecretion plays an important role in the pathogenesis of asthma, and is associated with the induction of MUC5AC expression in airway secretion. The MUC5AC gene is highly polymorphic; however, there are few studies about the association between the polymorphisms of the MUC5AC gene and asthma susceptibility or asthma phenotypes. We have investigated the association of MUC5AC promoter polymorphisms with the risk of asthma and asthma phenotypes. Methods: We determined the genotypes of the MUC5AC promoter (-1274G>A) in 78 asthma patients and in 78 age, sex-matched control individuals in the Korean population. Genomic DNAs from blood were analyzed by PCR and RFLP (restriction fragment length polymorphism) determination. We examined $FEV_1$, total eosinophil count, serum IgE level, $PC_{20}$ and the presence of atopy (by a skin test) in asthma patients. Results: The mean age of the patients was $47.7{\pm}16.1$ years and 38.5% were men, and the mean $FEV_1$ was $84.4{\pm}22.3%$ of predicted in the asthma patients. The -1274G>A polymorphism of the MUC5AC promoter in asthma patients was not significantly different as compared with normal individuals (GG 57.7%, AG 34.6% and AA 7.7% in asthma patients vs. GG 56.4%, AG 38.5% and AA 5.1% in control subject, p = 0.752, Cod). Several clinical parameters in asthma patients such as $FEV_1$, total eosinophil count, serum IgE level, $PC_{20}$ and the presence of atopy, were not associated with the -1274G>A polymorphism of the MUC5AC promoter. Conclusion: The -1274G>A single nucleotide polymorphism (SNP) frequency of the MUC5AC promoter was not associated with asthma in a Korean population.
Keywords
Asthma; MUC5AC; Single nucleotide polymorphism;
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