γ-氨基丁酸受体1基因多态性（G1465A）与颞叶癫痫
GABA receptor 1 polymorphism (G1465A) and temporal lobe epilepsy.
作者信息
Salzmann Annick, Moulard Bruno, Crespel Arielle, Baldy-Moulinier Michel, Buresi Catherine, Malafosse Alain
机构信息
Division of Neuropsychiatry, University Hospital of Geneva, Geneva, Switzerland.
出版信息
Epilepsia. 2005 Jun;46(6):931-3. doi: 10.1111/j.1528-1167.2005.40304.x.
PURPOSE
To reevaluate the genetic contribution of the polymorphism G1465A of the gene coding for gamma-aminobutyric acid (GABA)(B) receptor 1 subunit [GABA(B)(1)] in a sample of French patients with temporal lobe epilepsy (TLE) and to perform an exploratory analysis in other phenotypic subgroups.
METHODS
The 134 patients were genotyped for the polymorphism G1465A. This sample was divided in two groups. The first one had patients with nonlesional TLE, and the second one, with lesional TLE. Then these two groups were compared with a sample of 145 healthy individuals.
RESULTS
The genotype and allele distributions for the polymorphism G1465A showed no difference between patients and controls.
CONCLUSIONS
The association between the variant G1465A and the sample of patients could not be replicated, so these results exclude a major effect of this polymorphism in the susceptibility to nonlesional TLE. Larger samples should be tested to determine whether the G1465A in exon 7 of the GABA(B)(1) receptor gene is a susceptibility factor for nonlesional TLE.
目的
在一组法国颞叶癫痫（TLE）患者样本中重新评估编码γ-氨基丁酸（GABA）（B）受体1亚基[GABA（B）（1）]基因的G1465A多态性的遗传贡献，并在其他表型亚组中进行探索性分析。
方法
对134例患者进行G1465A多态性基因分型。该样本分为两组。第一组为非损伤性TLE患者，第二组为损伤性TLE患者。然后将这两组与145名健康个体的样本进行比较。
结果
G1465A多态性的基因型和等位基因分布在患者和对照组之间没有差异。
结论
变异体G1465A与患者样本之间的关联无法复制，因此这些结果排除了该多态性在非损伤性TLE易感性中的主要作用。应测试更大的样本，以确定GABA（B）（1）受体基因第7外显子中的G1465A是否是非损伤性TLE的易感性因素。
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