中文摘要：

目的 在中国中部地区汉族人群中对载脂蛋白E（apolipoprotein E,ApoE）基因2个单核苷酸多态（single nucleotide polymorphism,SNPs）位点进行分析比较,探讨ApoE基因SNPs与癫痫耐药是否相关.方法 采用病例对照研究,依据2010年国际抗癫痫联盟提出的耐药性癫痫定义,对143例耐药性癫痫患者和221例非耐药性癫痫患者进行临床评估并抽取外周静脉血提取全基因组DNA,通过Illumina GoldenGate基因芯片对研究人群ApoE rs7412和rs769450位点进行基因分型,对组间等位基因频率、基因型频率及位点间连锁不平衡进行统计学分析.结果 癫痫耐药组和非耐药组间,rs7412位点基因型和等位基因频率差异无统计学意义,rs769450位点GG基因型（OR =2.038,95％CI1.196 ～3.475,P=0.009）和G等位基因（OR=1.618,95％CI1.193～2.193,P=0.002）在耐药性癫痫人群中的频率显著高于非耐药人群;在特发性癫痫人群中,rs769450位点GG基因型（OR =2.110,95％CI1.189 ～3.744,P=0.011）和G等位基因（OR=1.641,95％CI1.187 ～2.270,P =0.003）频率在耐药组仍然显著高于非耐药组;rs7412和rs769450位点在癫痫耐药组与非耐药组间通过SHEsis平台分析,不存在连锁不平衡（D＆#39;=0.072）.结论 ApoE rs769450 GG基因型及G等位基因在中国中部汉族人群中可能与癫痫耐药相关.

英文摘要：

Objective To investigate the possible association between two single nucleotide polymorphisms （SNPs） loci of apolipoprotein E （ApoE） gene and epileptic drug resistance in a central Chinese Han population.Methods A case control study was performed in 364 epileptic patients.According to the criteria of drug resistant epilepsy proposed by International League Against Epilepsy in 2010,143 patients were classified into drug resistant group and 221 patients into drug responsive group.The peripheral venous blood of each patient was collected for DNA extraction after clinical evaluation.The candidate ApoE SNPs loci,including rs7412 and rs769450,were genotyped by BeadChip Scanning and GoldenGate Assay following the Illumina protocols.The differences in allelic and genotypic frequency were compared between groups.Linkage disequilibrium was calculated through SHEsis platform.Results There was no significant difference for genotype or allele of rs7412 between groups.The GG genotype （OR =2.038,95% CI 1.196-3.475,P=0.009） and G allele （OR =1.618,95%CI 1.193-2.193,P=0.002） of rs7412 were significantly more abundant in the drug resistant group.As for idiopathic epileptic patients,the GG genotype （OR =2.110,95% CI 1.189-3.744,P =0.011） and G allele （OR =1.641,95% CI 1.187-2.270,P =0.003） of rs7412 were still significantly more abundant in the drug resistant group.There was no linkage disequilibrium between the two loci with D＆#39; value of 0.072.Conclusion The GG genotype and G allele of ApoE rs769450 may be associated with epileptic drug resistance in a central Chinese Han population.