열성경련과 열성경련플러스(GEFS＋)에서 Brain-derived neurotrophic factor(BDNF) SNP 6265의 다형성 = Brain-d erived Neurotrophic Factor(BDNF) SNP 6265 Polymorphisms in Febrile Seizure and GEFS＋

국문 초록 (Abstract)

목 적 : 열성경련은 영유아에서 가장 흔한 신경학적 질환 중 하나이나 아직 그 병인은 분명하게 밝혀 지지 않았다. 최근 많은 연구에서 Brain-derived neurotrophic factor(BDNF)의 발현이 신경세포의 흥분을 증가시킨다고 보고되고 있다. 이에 저자들은 BDNF 유전자의 SNP 6265 다형성이 열성경련의 감수성을 예측하는 유용한 표지자인지 여부를 알아보기 위하여 열성경련 환아 및 이전에 연구되지 않았던 열성경련플러스 환아를 대상으로 BDNF 유전자의 SNP 6265 다형성의 빈도를 정상 대조군과 비교, 분석하였다.
방 법: 가톨릭대학교 소아과를 방문한 총 79명을 대상으로 열성경련 환아 30명, 열성경련플러스 환아 19명, 그리고 건강한 정상 대조군 30명의 세 군으로 분류하였으며, BDNF 유전자의 SNP 6265 다형성 여부를 확인하기 위해 각 군간 유전자형 및 대립유전자 빈도를 비교하였다.
결 과 : 세 군의 유전자형 분포는 AA 동형접합자, A/G 이형접합자 및 GG 동형접합자가 열성경련 환아군에서 46.7%, 36.7% 및 16.7%, 열성경련 플러스 환아군에서 26.3%, 47.4% 및 26.3%, 정상 대조군에서는 60.0%, 16.7% 및 23.3%로 가장 흔한 유전자형은 열성경련 환아군과 정상 대조군에서는 A/A 동형 접합자인 반면 열성경련 플러스 환아군에서는 A/G
이형접합자였다. 그리고 BDNF 유전자에 대한 A와 G의 대립유전자 빈도를 분석한 결과는 열성경련 환아군에서 65.0%와 35.0%였고 열성경련플러스 환아군에서 50%와 50%였으며 정상 대조군에서는 68.3%와 31.7%로 열성경련 환아군과 정상 대조군에서 A 대립유전자의 빈도가 더 높았다. 하지만 이러한 유전자형 분포와 대립 유전자 빈도상의 차이는 통계적 의의는 없었다.
결 론: 저자들은 BDNF 유전자의 SNP 6265 다형성이 열성경련 및 열성경련플러스의 병인과 관련이 없으며 이들 질환에 대한 감수성을 예측하는 유용한 표지자가 아님을 확인하였다.

다국어 초록 (Multilingual Abstract)

Purpose : Febrile seizure(FS) is one of the most common neurological conditions during childhood, but the pathogenesis of FS remains ambiguous. Various studies have shown that brain-derived neurotrophic factor(BDNF) increased neuronal excitability. In this study, to determine whether the polymorphisms of SNP 6265 within the gene encoding BDNF are associated with susceptibility to FS, the frequencies of the polymorphisms were investigated in children with FS and control subjects. In addition, we analyzed the SNP 6265 polymorphisms in Generalized epilepsy with febrile seizures plus (GEFS＋) that hasn't been studied as yet in Korea.
Methods : A total of 79 children selected throughout a collaborative study of Catholic Child Neurology Research Group were divided into three groups: (1) FS(n=30); (2) GEFS＋ (n=19); (3) control subjects(n=30). Genotypes and allelic frequencies for the polymorphisms of SNP 6265 located at nucleotide 196 was analyzed and compared among the groups.
Results : In this study, proportions for A homozygote, A/G heterozygote and G homozygote for BDNF were as follows: in FS, 46.7%, 36.7% and 16.7%, in GEFS＋, 26.3%, 47.4% and 26.3% and in control subjects, 60.0%, 16.7% and 23.3%. The allele A and G frequencies for BDNF in FS were 65.0% and 35.0%, in GEFS＋ were 50% and 50%, and in control subjects were 68.3% and 31.7%. However, these differences in genotype proportions and allele frequencies among three groups were not significant.
Conclusion : These results suggest that genomic variations of BDNF might not be the susceptibility factor for FS and GEFS＋ in Korean population.

목차 (Table of Contents)

• 서론
• 대상 및 방법
• 결과
• 고찰
• 요약
• References

참고문헌 (Reference)

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