Association of GABRG2 polymorphisms with idiopathic generalized epilepsy

作者：Chou I Ching; Lee Cheng Chun^*; Tsai Chang Hai; Tsai Yuhsin; Wan Lei; Hsu Yu An; Li Tsai Chung; Tsai Fuu Jen

来源：Pediatric Neurology, 2007, 36(1): 40-44.

DOI：10.1016/j.pediatrneurol.2006.09.011

Missense mutations in the gamma 2 subunit of gamma-aminobutyric acid (GABA) receptor gene have recently been described in families with idiopathic generalized epilepsies. This study aimed to evaluate whether polymorphisms of the gamma 2 subunit of the GABA receptor gene are associated with idiopathic generalized epilepsies. A total of 77 children with idiopathic generalized epilepsies and 83 normal control subjects were included in the study. Polymerase chain reaction was used to identify the C/T and A/G polymorphisms of the gamma 2 subunit of the GABA receptor gene on chromosome 5q33. Genotypes and allelic frequencies in both groups were compared. The gamma 2 subunit of the GABA receptor (nucleotide position 3145 in intron G -> A) gene in both groups was not significantly different. In contrast, the gamma 2 subunit of GABA receptor (SNP211037)-C allele frequency in patients with idiopathic generalized epilepsies was significantly higher than that in healthy control subjects (P = 0.002). The odds ratio for developing idiopathic generalized epilepsies in individuals with the gamma 2 subunit of the GABA receptor (SNP211037)-C/C genotype was 3.61 compared with individuals with the 72 subunit of the GABA receptor (SNP211037)-T/T genotype. These data suggest that the 72 subunit of the GABA receptor gene might be one of the susceptibility factors for idiopathic generalized epilepsies.

• 出版日期2007-1
• 单位中国医科大学