Association Analysis Of A Polymorphism Of GABA_BR1 Gene And Temporal Lobe Epilepsy In A Chinese Population

Background and ObjectivesTemporal lobe epilepsy(TLE) is one of the most common epilepsy syndromes, it is often associated with hippocampal sclerosis (HS). Although the etiology of TLE remains highly controversial, in the past few years, growing evidence indicated that genetic predisposition appears to be an important causal factor of TLE. GABA(γ-aminobutyric acid) is the principal inhibitory neurotransmitter in the human brain, which exerts its effects mainly through two receptor subtypes termed A and B. GABA (B) receptors are highly expressed in the limbic system, specifically in CA1 and CA3 pyramidal cells of hippocampal formation, and in dentate gyrus granule cells. So malfunctioning of the GABA-ergic system has been proposed as one cause for epilepsy.Recently Gambardella et al found there was a strong association between GABA_BR1 gene polymorphism (G1465A) and TLE in Europe group. The biologic significance of such a finding need to be confirmed by independent population samples. So we perform a case-control test to research if the polymorphism is a susceptibility factor for TLE of Chinese ancestry.Materials and MethodsThe study consisted of 112 outpatients with nonlesional TLE who visited the Hakuai Epilepsy Center in Peking Union Medical College Hospital from December 2000 to July 2001. Informed consent for this study was obtained from all subjects. Diagnosis of nonlesional TLE was based on comprehensive clinical, neuropsychological, EEG, and MR evaluations, According to the findings of MRI, patients could be divided into two groups: 67 TLE patients with HS (TLE-HS~+) and 45 patients without HS (TLE-HS~-), 28 of the 67 TLE-HS~+ and 7 of the 45 TLE-HS~-had a personal history of FC. At the time of the study, the age of the patients ranged from 11 to 63 years (mean 31.5 ±11.4years, SD). The mean age at seizure onset was...