Xie Y Y, Qu J, Zhou L, Lv N, Gong J E, Cao Y Z, Long L L, Long H Y, Xiao B
Clin Lab. 2017 Jul 1;63(7):1113-1120. doi: 10.7754/Clin.Lab.2017.161217.
Epilepsy is one of the most common chronic neurological diseases. A recent study has implicated that the genetic variants of the SLC6A11 gene encoding GAT-3, an astrocytic GABA transporter, may influence the efficacy of antiepileptic drugs (AEDs) in the Korean population.
This study aims to investigate the possible associations between SLC6A11 gene and drug resistance in Chinese epilepsy patients. Genomic DNA from 240 drug resistant epilepsy (DRE) patients and 336 drug responsive epilepsy patients was tested for the polymorphisms using Illumina GoldenGate assay.
None of the 14 tagSNP alleles and genotypes were found to be related to DRE. The frequencies of haplotype 5 was obviously lower in DRE patients than that in drug responsive epilepsy patients (1% vs. 4%, OR = 2.56 [0.107 - 0.763], p = 0.01). However, after the correction of multiple comparisons with Bonferroni's method, we found that haplotype 5 was not associated with DRE.
Our study suggested no existing association between the 14 SNPs of SLC6A11 and AEDs efficacy in the Chinese Han population.
癫痫是最常见的慢性神经疾病之一。最近一项研究表明，编码星形胶质细胞γ-氨基丁酸转运体GAT-3的SLC6A11基因的遗传变异可能会影响韩国人群中抗癫痫药物（AEDs）的疗效。
本研究旨在调查中国癫痫患者中SLC6A11基因与耐药性之间可能存在的关联。使用Illumina GoldenGate检测法对240例耐药性癫痫（DRE）患者和336例药物反应性癫痫患者的基因组DNA进行多态性检测。
未发现14个标签单核苷酸多态性（tagSNP）等位基因和基因型与DRE相关。单倍型5在DRE患者中的频率明显低于药物反应性癫痫患者（1%对4%，OR = 2.56 [0.107 - 0.763]，p = 0.01）。然而，在用Bonferroni方法进行多重比较校正后，我们发现单倍型5与DRE无关。
我们的研究表明，在中国汉族人群中，SLC6A11基因的14个单核苷酸多态性（SNP）与AEDs疗效之间不存在关联。
