한국 소아 아토피 피부염 환아에서IL-13(-1512A/C) 유전자다형의 관련성
Association Between IL-13 Polymorphism(-1512A/C) andAtopic Dermatitis in Korean Children
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배 경 : IL-13은 IgE의 생산과 천식 등 알레르기질환의 병태생리에 중요한 역할을 한다. 최근 IL-13 promoter 부위(-1512A/C)의 유전자다형과 아토피 천식과의 관련성이 제시되었으나 아토피피부염과의 관련성은 보고된 바 없어, 본 연구는 소아 아토피피부염과 IL-13 -1512A/C 다형 사이의 관련성을 조사하였다.방 법 : 서울아산병원 소아알레르기 클리닉에 내원한 296명의 아토피피부염 환아와 116명의 대조군을 대상으로 하였다. 아토피피부염의 임상표현형으로 혈청 총 IgE 농도와 D.f- 및 D.p-특이 IgE 농도, 혈액 호산구 수치 및 eosinophil cationic protein(ECP) 농도를 측정하였다. IL- 13(-1512A/C) 유전자다형 검사는 restriction fragment length polymorphism(RFLP) 방법으로 시행하였다. 결 과 : 변이 형질의 빈도가 알레르기성 아토피피부염과 비알레르기성 아토피피부염 그리고 대조군 사이에 유의한 차이를 보이지 않았다. 또한 변이유전자를 가지고 있는 환아에서 유전자형과 임상표현형 사이에 연관성이 보이지 않았다. 결 론:이 결과는 한국 소아에서 IL-13 promoter 부위(-1512A/C) 단일염기다형은 아토피피부염의 발생뿐만 아니라 임상표현형과 관련이 없음을 시사한다. 앞으로 더 많은 연구 대상군을 이용하여 연구가 진행되어야 할 것으로 생각한다.
Abstract
Purpose : Interleukin(IL)-13 plays a pivotal role in the induction of immunoglobulin E (IgE) and in the pathogenesis of atopic dermatitis(AD). Recently, an association was reported between the polymorphism of the IL-13 promoter region(-1512A/C) and atopic asthma. We investigated the association between the IL-13 single nucleotide polymorphism(SNP) in the promoter region(-1512A/C) and atopic dermatitis in Korean children with AD. Methods : We enrolled 204 allergic AD, 92 non-allergic AD, and 116 non-atopic healthy children. Evaluated phenotypes of atopic dermatitis included total IgE, total eosinophil count, and eosinophil fraction. We used a PCR-RFLP method to identify IL-13 genotypes. Results : The allele frequencies of the IL-13 promoter polymorphism(-1512A/C) did not differ statistically among the three groups. Children with one or two copies of risk alleles in the promoter region(-1512C) did not show any significant association with the clinical phenotypes of atopic dermatitis including total IgE, eosinophil phenotypes and SCORAD score in the allergic or non-allergic atopic dermatitis. Conclusion : These data suggest that the -1512A/C polymorphism of IL-13 gene may not be associated with neither the development nor the clinical phenotypes of atopic dermatitis in Korean children.
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