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Journal of the Korean Child Neurology Society 2006;14(1):113-120.
Published online May 30, 2006.
Interleukin-1beta Promoter Polymorphisms in Febrile Seizures and GEFS+.
Seung Yun Chung, Yang Joon Park, Young Hoon Kim, In Goo Lee, Kyung Tai Whang, Joon Sung Lee, Hye Sung Kim, Kweon Haeng Lee, Sung Vin Yim
1Department of Pediatrics, College of Medicine, Catholic University of Korea, Seoul, Korea. pedkyh@catholic.ac.kr
2Neuroscience Genome Research Center, Catholic University of Korea, Seoul, Korea.
3Department of Pharmacology, College of Medicine, Catholic University of Korea, Seoul, Korea.
4Department of Pharmacology, College of Medicine, Kyung Hee University, Seoul, Korea.
Abstract
PURPOSE
Studies gave conflicting results as to the association between febrile seizures(FSs) and IL1B promoter polymorphisms. In the present study, to determine whether or not the function-related two single nucleotide base C/T biallelic polymorphisms in the promoter region at positions -31 and -511 of the IL1B gene are associated with susceptibility to FSs, the frequencies of the polymorphisms were investigated in children with FSs and GEFS+, and normal control subjects. METHODS: 72 FSs, 23 GEFS+ and 174 healthy control subjects were selected throughout a collaborative study of Catholic Child Neurology Research Group. IL1B promoter -31 C/T and -511 C/T genotyping was performed by means of PCR-restriction fragment length polymorphism. RESULTS: The distribution of IL1B -31 genotypes and the frequencies of allele in children with FSs and GEFS+, and healthy control subjects were not significantly different. The distributions of IL1B -31 genotypes(CC, CT, TT) are 22.2%, 50%, and 27.8% in children with FSs, 21.7%, 43.5% and 34.8% in children with GEFS+, and 27.6%, 49.3% and 24.1% in healthy control subjects. The distribution of IL1B -511 genotypes and the frequencies of allele in children with FSs and GEFS+, and healthy control subjects were not significantly different. The distributions of IL1B -511 genotypes(CC, CT, TT) are 23.6%, 47.2%, and 29.2% in children with FSs, 26.1%, 39.1% and 34.8% in children with GEFS+, and 27.6%, 49.3% and 24.1% in healthy control subjects. CONCLUSION: Theses data suggest that genomic variations of IL1B promoter might not be one of the susceptibility factors for FSs in the Korean population.
Key Words: Febriles seizures, GEFS+, Interleukin-1beta, Polymorphism, Gene


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