难治性癫痫患病风险与MDRI基因tag SNPs rs3789243及rs2235046位点多态性的相关性

摘要

目的 探讨MDRI基因tag SNPs与中国汉族难治性癫痫患病风险的关系.方法 安徽合肥周边地区的汉族癫痫患者164例和健康对照198例,通过传统SNP基因分型技术PER-CTPP对MDRI基因的标签SNPs rs3789243和rs2235046进行基因分型,随机样本测序验证,并进行统计学分析.结果 SNPs rs3789243的CC基因型分布频率在癫痫病例组和正常对照组之间、难治组和对照组之间均有显著性差异(P<0.01),相对危险度分别为4.315和7.123(P<0.01);SNPs rs2235046的AA基因型分布频率在癫痫病例组和对照组之间有显著性差异(P<0.01),相对危险度为2.837(P<0.01).结论 MDRI基因多态性ra3789243基因型CC和rs2235046基因型AA可能与癫痫的患病风险升高有关;rs3789243基凶型CC可能与IE风险升高有关.%Objective To investigate the relationship between polymorphisms of MDR1 gene tagSNPs and intractable epilepsy in Han Chinese population.Methods Totally 164 Han epilepsy and 198 controls living in or near Anhui Hefei were recruited in this study.Tag SNPs rs3789243 and rs2235046 were genotyped through PCR-CTPP and the same polymorphism was genotyped by DNA sequence analysis, assaying in all subjects.Results There was significant difference in genotypic CC of rs3789243 between epilepsy group and the controls, intractable epilepsy group and the controls(P ＜0.01 ) ,with OR of 4.315 and 7.123 (all P ＜0.01 ); There was also significant difference of genotypic AA of rs2235046 between epilepsy group and the controls ( P ＜ 0.01 ), with OR of 2.837 (P ＜0.01 ).Conclusion Our study informed that the higher risk for epilepsy might be associated with the genotype rs3789243 CC and rs2235046 AA of MDR1 gene.And the higher risk of intractable epilepsy might be related with genotype rs3789243 CC.