Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Polymorphisms of interleukin-1β promoter in simple febrile seizures

단순 열성 경련에서 interleukin-1β promoter 유전자의 다형성

  • Yoon, Jang Won (Department of Pediatrics, College of Medicine, Konyang University) ;
  • Choen, Eun Jung (Department of Pediatrics, College of Medicine, Konyang University) ;
  • Lee, Young Hyuk (Department of Pediatrics, College of Medicine, Konyang University)
  • 윤장원 (건양대학교 의과대학 소아과학교실) ;
  • 천은정 (건양대학교 의과대학 소아과학교실) ;
  • 이영혁 (건양대학교 의과대학 소아과학교실)
  • Received : 2007.06.16
  • Accepted : 2007.10.19
  • Published : 2008.09.15
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Abstract

Purpose : Febrile seizure (FS) is the most common type of seizure. The role of genetic factors in FSs has long been recognized. A positive family history can be elicited in 25-40% of patients with FSs; nonetheless, the genes responsible for FSs in the majority of the population remain unknown. Interleukin-$1{\beta}$ ($IL-1{\beta}$) is a pro-inflammatory cytokine that acts as an endogenous pyrogen. Thus, $IL-1{\beta}$ could be involved in the pathophysiology of FSs. Methods : To determine whether or not single nucleotide polymorphisms of the $IL-1{\beta}$ gene are associated with susceptibility to simple FSs, $IL-1{\beta}$ promoter -31 and -511 genotyping was performed by means of polymerase chain reaction-restriction fragment (PCR-RF) length polymorphism in 40 FS patients (20 sporadic and 20 familial FS patients) and 33 controls. Results : There were no significant differences in the frequencies of -31 C/T and -511 C/T in the $IL-1{\beta}$ promoter gene, between simple FS patients and controls. Conclusion : The frequency of CT/CT increased relatively in familial FS patients. A study examining a larger number of FS patients is needed.

목 적 : 열성 경련은 소아에서 가장 흔한 경련의 원인으로 우리나라의 경우 6-9%의 발생율을 보인다. 열성 경련의 원인으로 유전적인 소인이 중요한 것으로 생각되고 있지만 아직까지 열성경련과 관련된 정확한 유전자는 밝혀지지 않았다. $IL-1{\beta}$은 내인성 발열인자로서 열성 경련의 발병에 중요한 역할을 할 것으로 생각된다. 방 법 : 40명의 열성경련 환아(가족형 20명, 산발형 20명)와 33명의 대조군을 대상으로 하여 말초혈액에서 DNA를 추출했으며 PCR을 통해 분석하였다. $IL-1{\beta}$ gene의 -31, -511 promoter region에서 C/T biallelic polymorphism의 빈도를 대조군과 단순 열성경련 군(가족형과 산발형)으로 나누어 각각 비교해 보았다. 결 과 : 두 군간 다형성의 빈도는 통계학적으로 유의한 차이를 보이지 않았다. 결 론 : 통계학적 의의는 없으나 가족력이 있는 열성경련 군에서 CT/CT의 빈도가 상대적으로 높게(70.0%) 측정되어 많은 수의 환아를 대상으로 한 연구가 필요할 것으로 보인다.

Keywords

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