Basic & Clinical Medicine ›› 2011, Vol. 31 ›› Issue (9): 991-995.

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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

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

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