中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2014年
8期
523-527
,共5页
周罗%龙莉莉%龙泓羽%冯莉%徐琳%龚娇娥%肖波
週囉%龍莉莉%龍泓羽%馮莉%徐琳%龔嬌娥%肖波
주라%룡리리%룡홍우%풍리%서림%공교아%초파
癫痫%抗药性%载脂蛋白E类%多态性,单核苷酸%汉族
癲癇%抗藥性%載脂蛋白E類%多態性,單覈苷痠%漢族
전간%항약성%재지단백E류%다태성,단핵감산%한족
Epilepsy%Drug resistance%Apolipoproteins E%Polymorphism,single nucleotide%Han nationality
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'=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.
目的 在中國中部地區漢族人群中對載脂蛋白E(apolipoprotein E,ApoE)基因2箇單覈苷痠多態(single nucleotide polymorphism,SNPs)位點進行分析比較,探討ApoE基因SNPs與癲癇耐藥是否相關.方法 採用病例對照研究,依據2010年國際抗癲癇聯盟提齣的耐藥性癲癇定義,對143例耐藥性癲癇患者和221例非耐藥性癲癇患者進行臨床評估併抽取外週靜脈血提取全基因組DNA,通過Illumina GoldenGate基因芯片對研究人群ApoE rs7412和rs769450位點進行基因分型,對組間等位基因頻率、基因型頻率及位點間連鎖不平衡進行統計學分析.結果 癲癇耐藥組和非耐藥組間,rs7412位點基因型和等位基因頻率差異無統計學意義,rs769450位點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)在耐藥性癲癇人群中的頻率顯著高于非耐藥人群;在特髮性癲癇人群中,rs769450位點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)頻率在耐藥組仍然顯著高于非耐藥組;rs7412和rs769450位點在癲癇耐藥組與非耐藥組間通過SHEsis平檯分析,不存在連鎖不平衡(D'=0.072).結論 ApoE rs769450 GG基因型及G等位基因在中國中部漢族人群中可能與癲癇耐藥相關.
목적 재중국중부지구한족인군중대재지단백E(apolipoprotein E,ApoE)기인2개단핵감산다태(single nucleotide polymorphism,SNPs)위점진행분석비교,탐토ApoE기인SNPs여전간내약시부상관.방법 채용병례대조연구,의거2010년국제항전간련맹제출적내약성전간정의,대143례내약성전간환자화221례비내약성전간환자진행림상평고병추취외주정맥혈제취전기인조DNA,통과Illumina GoldenGate기인심편대연구인군ApoE rs7412화rs769450위점진행기인분형,대조간등위기인빈솔、기인형빈솔급위점간련쇄불평형진행통계학분석.결과 전간내약조화비내약조간,rs7412위점기인형화등위기인빈솔차이무통계학의의,rs769450위점GG기인형(OR =2.038,95％CI1.196 ～3.475,P=0.009)화G등위기인(OR=1.618,95％CI1.193～2.193,P=0.002)재내약성전간인군중적빈솔현저고우비내약인군;재특발성전간인군중,rs769450위점GG기인형(OR =2.110,95％CI1.189 ～3.744,P=0.011)화G등위기인(OR=1.641,95％CI1.187 ～2.270,P =0.003)빈솔재내약조잉연현저고우비내약조;rs7412화rs769450위점재전간내약조여비내약조간통과SHEsis평태분석,불존재련쇄불평형(D'=0.072).결론 ApoE rs769450 GG기인형급G등위기인재중국중부한족인군중가능여전간내약상관.
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' 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.
