Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Tumor Necrosis Factor and Lymphotoxin-α Gene Polymorphism in Korean Children with Type 1 Diabetes

한국 소아 1형 당뇨병에서 종양괴사인자 및 림프독소-α 유전자 다형성

  • Suh, Jin Soon (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Park, So Young (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Jung, Min Ho (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Suh, Byung Kyu (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Kim, Tae Gyu (Department of Microbiology and Immunology, College of Medicine, The Catholic University of Korea) ;
  • Lee, Byung Churl (Department of Pediatrics, College of Medicine, The Catholic University of Korea)
  • 서진순 (가톨릭대학교 의과대학 소아과학교실) ;
  • 박소영 (가톨릭대학교 의과대학 소아과학교실) ;
  • 정민호 (가톨릭대학교 의과대학 소아과학교실) ;
  • 서병규 (가톨릭대학교 의과대학 소아과학교실) ;
  • 김태규 (가톨릭대학교 의과대학 미생물학교실) ;
  • 이병철 (가톨릭대학교 의과대학 소아과학교실)
  • Received : 2005.03.02
  • Accepted : 2005.04.25
  • Published : 2005.08.15
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Abstract

Purpose : Recently, it was reported that tumor necrosis factor(TNF) and $lymphotoxin-{\alpha}$($LT-{\alpha}$) gene regions might be a susceptible loci to type 1 diabetes in Japanese. The purpose of this study was to investigate the association of TNF and $LT-{\alpha}$ gene polymorphisms with disease susceptibility in Korean children with type 1 diabetes. Methods : Forty-nine Korean children with type 1 diabetes(29 girls and 20 boys) and 94 healthy Koreans were investigated in this study. Genotyping for -857T/C polymorphism in the TNF promoter region and $LT-{\alpha}$ gene polymorphism were performed by PCR-RFLP(restriction fragment length polymorphism). TNF promoter -1031C/T polymorphism was detected by allele-specific PCR. Results : The distribution of the -857T/C and -1031C/T genotype in the TNF promoter region was not different between diabetic children and the controls. The frequency of TT genotype in the distribution of TNF -1031C/T polymorphism in diabetic children with diabetic ketoacidosis(DKA) at diagnosis was significantly lower than those without DKA(P<0.05). No significant difference in the distribution of $LT-{\alpha}$ gene polymorphism was observed between diabetic children and the controls. There was no association between clinical characteristics of type 1 diabetes and $LT-{\alpha}$ gene polymorphisms. Conclusion : These results suggest that TNF promoter -857T/C and $LT-{\alpha}$ gene polymorphisms are not associated with susceptibility to type 1 diabetes in Korean children. TNF promoter -1031C/T polymorphism might be related to clinical manifestations(DKA) of type 1 diabetes.

목 적 : 한국 소아 1형 당뇨병에서 TNF promoter -857T/C와 -1031C/T 및 $LT-{\alpha}$ 유전자 다형성과 질병감수성과의 관련성을 평가하고자 하였다. 방 법 : 1형 당뇨병으로 진단 받은 소아 49명(여아 29명, 남아 20명)과 정상 대조군 94명의 혈액을 채취하여 DNA를 추출하였다. 추출한 DNA에 대하여 allele-specific PCR법을 이용하여 TNF promotor -1031C/T 다형성을, PCR-RFLP법을 이용하여 TNF promotor -857T/C, $LT-{\alpha}$ 유전자 다형성을 분석하였다. 결 과 : 환자군과 대조군 사이에서 TNF promoter -857T/C, -1031C/T 다형성의 분포는 차이가 없었다. 환자들의 임상적 특징에 따라 아군(subgroup)으로 분류하였을 때, 진단 시 당뇨병성 케톤산혈증으로 발현한 환자들에서 TNF promoter -1031C/T 다형성의 TT 유전자형의 빈도가 당뇨병성 케톤산혈증으로 발현하지 않은 환자들과 비교하여 유의하게 낮았다(P<0.05). 다른 임상적 특성들과 이들 유전자 다형성 사이에는 관련성이 없었다. 또 환자와 대조군 사이에 $LT-{\alpha}$ 유전자 다형성의 분포는 차이가 없었으며, 임상적 특성과의 관련성도 없었다. 결 론 : 이 연구를 통하여 TNF promoter -857T/C, $LT-{\alpha}$ 유전자 다형성이 한국 소아에서 1형 당뇨병의 질병감수성과 관련이 없음을 알 수 있었다. 그러나 TNF promoter -1031C/T 다형성은 당뇨병성 케톤산혈증과 같은 1형 당뇨병의 특정 임상양상에 영향을 미칠 수 있는 유전적 인자로 생각된다.

Keywords

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