Interleukin-1beta Promoter Polymorphisms in Febrile Seizures and GEFS+.
- Author:
Seung Yun CHUNG
1
;
Yang Joon PARK
;
Young Hoon KIM
;
In Goo LEE
;
Kyung Tai WHANG
;
Joon Sung LEE
;
Hye Sung KIM
;
Kweon Haeng LEE
;
Sung Vin YIM
Author Information
1. Department of Pediatrics, College of Medicine, Catholic University of Korea, Seoul, Korea. pedkyh@catholic.ac.kr
- Publication Type:Original Article
- Keywords:
Febriles seizures;
GEFS+;
Interleukin-1beta;
Polymorphism;
Gene
- MeSH:
Alleles;
Child;
Genotype;
Humans;
Interleukin-1beta*;
Neurology;
Promoter Regions, Genetic;
Seizures, Febrile*
- From:
Journal of the Korean Child Neurology Society
2006;14(1):113-120
- CountryRepublic of Korea
- Language:Korean
-
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.
