J Korean Child Neurol Soc.  2006 May;14(1):113-120.

Interleukin-1beta Promoter Polymorphisms in Febrile Seizures and GEFS+

Affiliations
  • 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.

Keyword

Febriles seizures; GEFS+; Interleukin-1beta; Polymorphism; Gene

MeSH Terms

Alleles
Child
Genotype
Humans
Interleukin-1beta*
Neurology
Promoter Regions, Genetic
Seizures, Febrile*
Interleukin-1beta
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