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