소아 천식에서 Transforming Growth Factor-β1Promoter 유전자의 다형성
Transforming Growth Factor-β1 Promoter Polymorphism in Childhood Asthma
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목 적 : Transforming growth factor (TGF)-β1 유전자의 -509C/T 유전자다형은 천식 및 아토피와 관련이 있는 것으로 알려져 있다. 본 연구에서는 국내 소아 천식 환자들을 대상으로 하여 TGF-β1 promoter 유전자다형(-509C/T)이 소아 천식이나 아토피의 발생에 미치는 영향을 조사해 보고자 하였다. 방 법 : 아토피 천식 환아 278명, 비아토피 천식 환아 54명과 대조군 248명을 대상으로 병력 문진, 폐기능 검사, 알레르기 피부시험, 기관지 유발시험 및 총 IgE 농도, 호산구수, ECP 농도를 측정하여 아토피 및 기관지과민성 여부를 확인하였다. 말초혈액에서 DNA를 추출하여 TGF-β1 promoter 유전자다형을 PCR-restriction fragment length polymorphism 방법으로 확인하였다. 결 과 : TGF-β1 promoter -509번째 염기의 유전형은 아토피 천식군, 비아토피 천식군과 대조군에서 CC/CT/TT의 분포가 각각 26.6%/49.3%/ 24.1%, 24.1%/46.3%/29.6%와 25.4%/47.2%/ 27.4%로서 유의한 차이를 보이지 않았다. 또한 천식군에서 -509번째 TGF-β1 promoter 유전자의 다형성은 각각 아토피, 폐기능, 기관지 과민성이나 총 IgE 농도, 호산구 수, ECP 농도와 통계적으로 유의한 연관성을 보이지 않았다. 결 론 : TGF-β1 promoter -509번째 유전자다형은 소아 천식이나 아토피의 발생에는 영향을 미치지 못하는 것으로 생각된다.
Abstract
Purpose : The -509C/T polymorphism of the transforming growth factor (TGF)-β1 gene has been associated with asthma and atopy. We evaluate whether TGF-β1 promoter polymorphism (-509C/T) is associated with the asthma phenotype and the development of atopy in Korean children. Methods : We enrolled 278 patients with atopic asthma, 54 non-atopic asthma and 248 healthy children. They underwent through pulmonary function tests and methacholine challenge tests with their eosinophil counts of blood, total serum IgE levels and serum eosinophil cationic protein levels. TGF-β1 promoter polymorphism was genotyped using PCR-restriction fragment length polymorphism (RFLP) assays. Results : No significant difference was observed in allele and genotype frequencies of TGF-β1 -509C/T polymorphism between the patients with atopic asthma or non-atopic asthma and control subjects. Any pulmonary function or atopic variables were not associated with this polymorphism. Furthermore, we showed that -509C/T polymorphism was not associated with bronchial hyperresponsiveness. Conclusion : These results suggest that the -509C/T polymorphism of the TGF-β1 promoter gene may not be associated with bronchial asthma or atopic variables in Korean children.
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