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

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 rs3...

Study on association of mdr1 gene tagSNPs rs3789243 and rs2235046 polymorphism with intractable epilepsy

Objective To investigate the relationship between polymorphisms of MDR1 gene tagSNPs and intractable epilepsy in Han Chinese population．Methods 149 Han epilepsy and 88 Han healthy controls living in or near Anhui Hefei were recruited in this study．Tagging 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 of genotypic CC of rs3789243 between epilepsy group and the controls, intractable epilepsy group and the controls, intractable epilepsy group and seizure-free group (P<0.01),with OR of 6.135、1.792 and 1.254 (all P <0.01); There was significant difference of genotypic AA of rs2235046 between epilepsy group and the controls (P<0.01),with an OR of 2.976(P<0.01). Conclusion Plymorphisms of MDR1 gene may associate with epilepsy:the genotype rs3789243 CC and rs2235046 AA may associate with higher risk for epilepsy; the genotype rs3789243 CC may associate with higher risk for intractable epilepsy.