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KMID : 0391520060140010113
Journal of the Korean Child Neurology Society
2006 Volume.14 No. 1 p.113 ~ p.120
Interleukin-1 ¥â Promoter Polymorphisms in Febrile Seizures and GEFS+.
Chung Seung-Yun

Park Yang-Joon
Kim Young-Hoon
Lee In-Goo
Whang Kyung-Tai
Lee Joon-Sung
Kim Hye-Sung
Lee Kweon-Haeng
Yim Sung-Vin
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.
KEYWORD
Febrile seizures, GEFS+, Interleukin-1 ¥â, Polymorphisms, Gene
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