Gabbr1 Gene Polymorphism And Idiopathic Epilepsy And Refractory Epilepsy Associated With Research

Objective To investigate whether or not theγ－aminobutyric acid(GABA) receptor subtype B (GABBR) genes are associated with idiopathic generalize epilepsy (IGE). Methods three single nucleotide polymorphisms(SNPs) rs3025627 rs3025628 and rs29220 which loci nearly exon 7 was used as genetic markers. Both case-control study as well as based on Bi-PASA technique were used in 110 with IGE and 110 controls to conduct association analysis. Results The allele frequencies of these SNPs in Chinese normal population are in good agreement with Hardy-Weinberg equilibrium. The heterozygosity of SNP rs3025627 and rs3025628 and rs29220,are 0.445 and 0.436 and 0.436 respectively. The allele of frequency of heterozygote type of rs3025627 is significantly higher in normal controls than those in IGE patients (P<0.05) and the mutation type of rs3025627 TT is significantly higher in IGE patients than those in normal controls(P<0.005). Conclusions The result of our study show that the SNP rs3025627 are associated with IGE .