难治性癫痫患病风险与MDR1基因tag SNPs rs3789243及rs2235046位点多态的相关性研究

基础医学与临床 ›› 2011, Vol. 31 ›› Issue (9): 991-995.

难治性癫痫患病风险与MDR1基因tag SNPs rs3789243及rs2235046位点多态的相关性研究

凌烈锋¹,李璐²,朱幼铃³,穆燕芳³,周农⁴,董斌³

1. 皖南医学院
2. 皖南医学院生物化学教研室
3. 安徽医科大学第三附属医院
4. 安徽医科大学第一附属医院

收稿日期:2010-07-14 修回日期:2010-09-30 出版日期:2011-09-05 发布日期:2011-09-05
通讯作者: 凌烈锋 E-mail:wnyxyllf@yahoo.cn
基金资助:
安徽省高校省级自然科学研究项目[KJ200913010Z];皖南医学院中青年科研基金项目[WK200928]

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

Received:2010-07-14 Revised:2010-09-30 Online:2011-09-05 Published:2011-09-05

摘要/Abstract

摘要： 目的探讨MDR1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149例和健康对照88例，通过传统SNP基因分型技术PCR-CTPP对MDR1基因的标签SNPs rs3789243和rs2235046进行基因分型，随机样本测序验证，并进行统计分析。结果发现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、难治组和正常对照组之间、难治组和可控制组之间都有显著性差异(P均<0.01)，相对危险度分别为6.135、1.792和1.254 (P均<0.01)；SNPs rs2235046的AA基因型分布频率在癫痫病例组和正常对照组之间有显著性差异(P<0.01)，相对危险度为2.976( P<0.01)。结论研究提示MDR1基因多态rs3789243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基因型CC可能与IE风险升高有关。

关键词: MDR1基因 , tagSNPs , 难治性癫痫

Abstract: 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.

Key words: MDR1 gene, TagSNPs, Intractable epilepsy

中图分类号:

凌烈锋李璐朱幼铃穆燕芳周农董斌. 难治性癫痫患病风险与MDR1基因tag SNPs rs3789243及rs2235046位点多态的相关性研究 [J]. 基础医学与临床, 2011, 31(9): 991-995.

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