Association analysis of γ2 subunit of γ-aminobutyric acid type A receptor polymorphisms with febrile seizures

I. Ching Chou, Ching Tien Peng, Chao-Ching Huang, Jeffrey J.P. Tsai, Fuu Jen Tsai, Chang Hai Tsai

Research output: Contribution to journalArticle

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Abstract

An alternation of γ-aminobutyric acid (GABA)-ergic neurotransmission has been implicated as an etiologic factor in epileptogenesis. Missense mutations in the GABRG2 gene, which encodes the γ2 subunit of central nervous GABAA receptors, 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 single-nucleotide polymorphisms to investigate the distribution of genotypes of GABRG2 in 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 C/T and A/G polymorphisms of the GABRG2 gene on chromosome 5q33. Genotypes and allelic frequencies for the GABRG2 gene polymorphisms in both groups were compared. The GABRG2 (nucleotide position 3145 in intron G→ A) gene in both groups was not significantly different. In contrast, 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 (p = 0.017), and the GABRG2 (SNP211037)-C allele frequency in patients with FSs was significantly higher than that in healthy control subjects (p = 0.009). The odds ratio for developing FSs in individuals with the GABRG2 (SNP211037)C/C genotype was 2.56 compared with individuals with the GABRG2 (SNP211037)-T/T genotype. These data suggest that the GABRG2 gene might be one of the susceptibility factors for FSs.

Original languageEnglish
Pages (from-to)26-29
Number of pages4
JournalPediatric Research
Volume54
Issue number1
DOIs
Publication statusPublished - 2003 Jul 1

Fingerprint

Febrile Seizures
Genotype
Absence Epilepsy
Genes
Gene Frequency
Healthy Volunteers
Aminobutyrates
alpha-aminobutyric acid
Missense Mutation
GABA-A Receptors
Genetic Predisposition to Disease
Synaptic Transmission
Introns
gamma-Aminobutyric Acid
Single Nucleotide Polymorphism
Epilepsy
Seizures
Nucleotides
Chromosomes
Odds Ratio

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Chou, I. Ching ; Peng, Ching Tien ; Huang, Chao-Ching ; Tsai, Jeffrey J.P. ; Tsai, Fuu Jen ; Tsai, Chang Hai. / Association analysis of γ2 subunit of γ-aminobutyric acid type A receptor polymorphisms with febrile seizures. In: Pediatric Research. 2003 ; Vol. 54, No. 1. pp. 26-29.
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abstract = "An alternation of γ-aminobutyric acid (GABA)-ergic neurotransmission has been implicated as an etiologic factor in epileptogenesis. Missense mutations in the GABRG2 gene, which encodes the γ2 subunit of central nervous GABAA receptors, 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 single-nucleotide polymorphisms to investigate the distribution of genotypes of GABRG2 in 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 C/T and A/G polymorphisms of the GABRG2 gene on chromosome 5q33. Genotypes and allelic frequencies for the GABRG2 gene polymorphisms in both groups were compared. The GABRG2 (nucleotide position 3145 in intron G→ A) gene in both groups was not significantly different. In contrast, 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 (p = 0.017), and the GABRG2 (SNP211037)-C allele frequency in patients with FSs was significantly higher than that in healthy control subjects (p = 0.009). The odds ratio for developing FSs in individuals with the GABRG2 (SNP211037)C/C genotype was 2.56 compared with individuals with the GABRG2 (SNP211037)-T/T genotype. These data suggest that the GABRG2 gene might be one of the susceptibility factors for FSs.",
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Association analysis of γ2 subunit of γ-aminobutyric acid type A receptor polymorphisms with febrile seizures. / Chou, I. Ching; Peng, Ching Tien; Huang, Chao-Ching; Tsai, Jeffrey J.P.; Tsai, Fuu Jen; Tsai, Chang Hai.

In: Pediatric Research, Vol. 54, No. 1, 01.07.2003, p. 26-29.

Research output: Contribution to journalArticle

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