Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Polymorphisms of the CTLA-4 promoter(-318) and exon 1(+49) genes with atopic dermatitis in Korean children

아토피피부염 환아에서 CTLA-4 exon 1과 promoter 유전자 다형성

  • Song, Tae Won (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine) ;
  • Yang, Hea Sun (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine) ;
  • Lee, Kyung Eun (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine) ;
  • Kim, Kyung Won (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine) ;
  • Kim, Eun Soo (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine) ;
  • Sohn, Myung Hyun (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine) ;
  • Kimc, Kyu-Earn (Department of Pediatrics and Institute of Allergy, BK21 Project for Medical Science, Yonsei University College of Medicine)
  • 송태원 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단) ;
  • 양혜선 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단) ;
  • 이경은 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단) ;
  • 김경원 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단) ;
  • 김은수 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단) ;
  • 손명현 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단) ;
  • 김규언 (연세대학교 의과대학 소아과학교실 및 알레르기 연구소, 두뇌한국21 의과학사업단)
  • Received : 2005.11.14
  • Accepted : 2006.01.02
  • Published : 2006.05.15
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Abstract

Purpose : The gene-encoding cytotoxic T lymphocyte-associated antigen-4(CTLA-4) is one of the candidate genes for conferring susceptibility to atopic dermatitis(AD). The aim of the study was to investigate the association between Korean children with AD and the polymorphisms of CTLA-4 gene promoter(-318) and exon 1(＋49). Methods : The CTLA-4 promoter(-318 T/C) and exon 1(＋49 A/G) polymorphisms were genotyped via restriction fragment length polymorphism methods in 145 children with atopic eczema, 69 children with non-atopic eczema, and 96 healthy controls. Results : There was no significant difference in genotype and allele frequencies of the CTLA-4 promoter -318 T/C and exon 1 ＋49 A/G polymorphisms when the atopic eczema, non-atopic eczema, and control groups were compared. Additionally the CTLA-4 promoter -318 T/C and exon 1 ＋49 A/G polymorphisms were not shown to be associated with severity, IgE level, or eosinophil counts. Conclusion : Our data show that the polymorphisms within the CTLA-4 promoter(-318 T/C) and exon 1(＋49 A/G) genes are not associated with susceptibility to AD in Korean children.

목 적 : Cytotoxic T lymphocyte-associated antigen-4(CTLA-4)를 표현하는 유전자는 IgE 조절과 T 세포의 활성에 중요한 역할을 하는 후보유전자로 알려져 있다. 본 연구에서는 CTLA-4 exon 1(＋49 position)과 promoter 유전자(-318 position)의 다형성과 한국 소아의 아토피피부염의 유전적 감수성 및 아토피피부염의 임상양상의 관계에 대해 알아보고자 하였다. 방 법 : 아토피성 습진 145명, 비아토피성 습진 69명과 대조군 96명을 대상으로 restriction fragment length polymorphism방법으로 CTLA-4 promoter(-318 T/C)와 exon 1(＋49 A/G)의 다형성을 조사하였다. 결 과 : CTLA-4 exon 1과 promoter의 유전자 다형성이 아토피성 습진 환아군이나 비아토피성 습진 환아군에서 대조군에 비해 의의있는 분포의 차이를 보이지 않았으며, 아토피피부염의 중증도, IgE 농도, 호산구의 수와도 유의한 관계가 없없다. 결 론 : 본 연구에서는 CTLA-4 유전자 다형성이 한국 소아의 아토피피부염의 유전적 감수성 및 아토피피부염의 임상양상에 관여하지 않는 것으로 생각된다.

Keywords

References

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