| Autor: |
CHOU, ICHING, PENG, CHINGTIEN, HUANG, CHAOCHING, TSAI, JEFFREY J.P., TSAI, FUUJEN, TSAI, CHANGHAI |
| Zdroj: |
Pediatric Research (Ovid); July 2003, Vol. 54 Issue: 1 p26-29, 4p |
| Abstrakt: |
An alternation of aminobutyric acid GABAergic neurotransmission has been implicated as an etiologic factor in epileptogenesis. Missense mutations in the GABRG2gene, which encodes the 2 subunit of central nervous GABAAreceptors, have recently been described in one family with childhood absence epilepsy and febrile seizures FSs. FSs represent the majority of childhood seizures and have a genetic predisposition. It is not known, however, whether polymorphisms in those genes involved in familial epilepsies also contribute to the pathogenesis of FSs. By performing an association study, we used singlenucleotide polymorphisms to investigate the distribution of genotypes of GABRG2in patients with FSs. A total of 104 children with FSs and 83 normal control subjects were included in the study. PCR was used to identify the CT and AG polymorphisms of the GABRG2gene on chromosome 5q33. Genotypes and allelic frequencies for the GABRG2gene polymorphisms in both groups were compared. The GABRG2nucleotide position 3145 in intron G→A gene in both groups was not significantly different. In contrast, the number of individuals with the GABRG2SNP211037CC genotype in patients with FSs was significantly greater compared with that in healthy control subjects p0.017, and the GABRG2SNP211037C allele frequency in patients with FSs was significantly higher than that in healthy control subjects p0.009. The odds ratio for developing FSs in individuals with the GABRG2SNP211037CC genotype was 2.56 compared with individuals with the GABRG2SNP211037TT genotype. These data suggest that the GABRG2gene might be one of the susceptibility factors for FSs. |
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