Tuberc Respir Dis.  2007 Sep;63(3):235-241. 10.4046/trd.2007.63.3.235.

Association Analysis of MUC5AC Promoter Polymorphism with Asthma

Affiliations
  • 1Department of Internal Medicine, College of Medicine, Kangwon National University, Chuncheon, Korea. pulmo2@kangwon.ac.kr
  • 2Department of Molecular and Cellular Biochemistry, College of Medicine, Kangwon National University, Chuncheon, Korea.
  • 3Clinical Research Institute of Kangwon National University Hospital, Chuncheon, Korea.

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.

Keyword

Asthma; MUC5AC; Single nucleotide polymorphism

MeSH Terms

Asthma*
DNA
Eosinophils
Genotype
Humans
Immunoglobulin E
Male
Mucus
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide
Skin
DNA
Immunoglobulin E

Figure

  • 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.


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