Single Nucleotide Polymorphisms of GABRG2 in Febrile Seizures and GEFS+
Journal of the Korean Child Neurology Society
;
: 144-151, 2005.
Article
in Korean
| WPRIM
| ID: wpr-184752
ABSTRACT
PURPOSE:
Febrile seizures are characterized by a heterogenous phenotype segregating as an autosomal dominant trait with incomplete penetrance. Mutations in GABRG2 gene were identified in two families with generalized epilepsy and febrile seizures plus (GEFS+) and with absence epilepsy and febrile seizures(FSs). The present study assessed the role of GABRG2 gene in FSs and GEFS+ of the Korean population.METHODS:
66 FSs, 20 GEFS+ and 94 healthy control subjects were selected throughout a collaborative study of Catholic Child Neurology Research Group. The SNP211037 of GABRG2 was screened by DHPLC. DNA fragments showing variant chromatograms were subsequently sequenced. Genotypes and allelic frequencies for GABRG2 gene polymorphism in three groups were compared.RESULTS:
The number of individuals with the GABRG2(SNP211037)-C/C genotype in patients with FSs was significantly greater compared with that in healthy control subjects and the GABRG2(SNP211037)-C allele frequency in patients with FSs was significantly higher than that in healthy control subjects. The odds ratio for developing FSs in individuals with the GABRG2(SNP211037)-CC genotype was 5.96 compard with individuals with the GABRG2(SNP211037)-T/T genotype. In contrast, the GABRG2 (SNP211037) gene in GEFS+ and control groups was not significantly different.CONCLUSION:
Theses data suggest that genomic variations of GABRG2 might be one of the susceptibility factors for FSs in the Korean population.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
DNA
/
Odds Ratio
/
Epilepsy, Generalized
/
Epilepsy, Absence
/
Seizures, Febrile
/
Penetrance
/
Polymorphism, Single Nucleotide
/
Gene Frequency
/
Genotype
Type of study:
Etiology study
/
Prognostic study
Limits:
Child
/
Humans
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2005
Type:
Article
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