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Han, Sung, Lee, Lee, Lee, and Kim: Association Analysis of MUC5AC Promoter Polymorphism with Asthma
Original Article
Tuberculosis and Respiratory Diseases

Tuberculosis and Respiratory Diseases 2007; 63(3): 235-241.

Published online: 30 September 2007

DOI: https://doi.org/10.4046/trd.2007.63.3.235

Association Analysis of MUC5AC Promoter Polymorphism with Asthma

Seon-Sook Han, M.D.1, Ji Hyun Sung2, Mi-Eun Lee3, Seung-Joon Lee, M.D.1, Sung Joon Lee, M.D.1, Woo Jin Kim, M.D.1

1Department of Internal Medicine, College of Medicine, Kangwon National University, Chuncheon, Korea.

2Department of Molecular and Cellular Biochemistry, College of Medicine, Kangwon National University, Chuncheon, Korea.

3Clinical Research Institute of Kangwon National University Hospital, Chuncheon, Korea.

Address for correspondence: Woo Jin Kim, M.D. Department of Internal Medicine, Kangwon National University Hospital, 17-1 Hyoja-3-dong, Chuncheon, Kangwon-do 200-947, Korea. Phone: 82-33-258-2337, FAX: 82-33-258-2455, pulmo2@kangwon.ac.kr

Received 7 August 2007       Accepted 19 September 2007

Copyright © 2007 The Korean Academy of Tuberculosis and Respiratory Diseases

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 FEV1, total eosinophil count, serum IgE level, PC20 and the presence of atopy (by a skin test) in asthma patients.

Results

The mean age of the patients was 47.7 ± 16.1 years and 38.5% were men, and the mean FEV1 was 84.4 ± 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 FEV1, total eosinophil count, serum IgE level, PC20 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

Figures and Tables

Figure 1
Agarose gel (2%) of PCR products showing polymorphism of MUC5AC promoter. Lane 1: AA homozygote; Lane 2,5,6: GG homozygote; Lane 3,4: AG heterozygote; Lane 7: marker.
trd-63-235-g001
Table 1
Frequency of MUC5AC promoter -1274G>A polymorphism in asthmatics and non-asthmatics
trd-63-235-i001

Cod: Codominant; Dom: Dominant; Rec: Recessive; p value: chi-square test.

Table 2
The association of genotypes of the MUC5AC promoter with clinical parameter
trd-63-235-i002

SD: standard deviation; p value: general linear model.

Table 3
The association of genotypes of the MUC5AC promoter with severity of asthma
trd-63-235-i003

p value: chi-square test.

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