MUC5AC 프로모터의 유전자 다형성과 천식과의 연관성
Association Analysis of MUC5AC Promoter Polymorphism with Asthma
이승준 (강원대학교)
이성준 (강원대학교)
김우진 (강원대학교)
성지현 (강원대학교)
이미은 (강원의대)
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초록
연구배경: 기관지 점액의 과분비는 천식의 중요한 기전중의 하나이며, 특히천식 환자에서는 MUC5AC가 중요한 역할을 하는 것으로 알려져 있다. MUC5AC는 다양한 유전자 다형성을 갖는 것으로 알려져 있으나 MUC5AC 유전자 다형성과 천식과의 관계를 본 연구는 거의 없는 실정이다. 따라서 본 연구는 MUC5AC 프로모터 부위의 유전자 다형성과 천식과의 관계를 조사하였다. 방 법: 강원대학교 병원에서 78명의 천식환자와 이들과 성별, 나이가 일치하는 78명의 대조군을 선정하였다. 이들로부터 전혈을 채취하여 DNA를 분리하여 PCR과 RFLP를 이용하여 MUC5AC 프로모터의 -1274G>A 유전자 다형성을 분석하였다. 모든 대상환자는 의무기록지를 검토하여 주된 증상과 투여 약제를 확인하였으며, 이들에서의 폐기능, 총 호산구수, 혈청 IgE, 피부반응검사 결과를 조사하였다.결 과: 천식환자의 평균 나이는 47.7±16.1세, 남자가 38.5%이었으며, 평균 FEV1은 84.4±22.3%이었다. MUC5AC 프로모터의 -1274G>A 유전자 다형성은 두 군간에 차이가 없었다(p=0.752, Cod). 천식 증상의 심한 정도, FEV1, 총 호산구수, 혈청 IgE, PC20, 아토피의 유무에 따라서도 MUC5AC 프로모터의 -1274G>A 유전자 다형성은 차이가 없었다.
- keywords
- Asthma, MUC5AC, Single nucleotide polymorphism., Asthma, MUC5AC, Single nucleotide polymorphism.
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. (Tuberc Respir Dis 2007; 63: 235-241)
- keywords
- Asthma, MUC5AC, Single nucleotide polymorphism., Asthma, MUC5AC, Single nucleotide polymorphism.
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