Alpman Asude, Ozkinay Ferda, Tekgul Hasan, Gokben Sarenur, Pehlivan Sacide, Schalling Martin, Ozkinay Cihangir
Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.
J Child Neurol. 2010 Dec;25(12):1485-90. doi: 10.1177/0883073810368997. Epub 2010 May 6.
Despite considerable progress in the pharmacotherapy of epilepsy, more than 30% of patients are reported to be resistant to antiepileptic drugs. Multidrug resistance 1 (MDR1) gene could play a role in drug resistance in epilepsy. In this study, the authors investigated the association between the MDR1 gene polymorphisms, C3435T and G2677AT, and drug resistance epilepsy by using polymerase chain reaction/restriction fragment length polymorphism and pyrosequencing methods in a group of 39 patients with drug-resistant epilepsy and 92 controls. No associations were found between the polymorphisms of the MDR1 gene and drug-resistant epilepsy. Haplotype analysis showed no significant association. Compound genotype analysis showed that CC3435/GG2677 was significantly higher in the control group compared to the patient group. In conclusion, MDR1 polymorphisms investigated in this study are not associated with antiepileptic drug resistance, but the CC3435/GG2677 compound genotype might have an effect on antiepileptic drug response.
尽管癫痫的药物治疗取得了显著进展，但仍有超过30%的患者对抗癫痫药物耐药。多药耐药1（MDR1）基因可能在癫痫耐药中起作用。在本研究中，作者采用聚合酶链反应/限制性片段长度多态性和焦磷酸测序方法，对39例耐药性癫痫患者和92例对照者进行研究，以探讨MDR1基因多态性C3435T和G2677AT与耐药性癫痫之间的关联。未发现MDR1基因多态性与耐药性癫痫之间存在关联。单倍型分析未显示出显著关联。复合基因型分析显示，与患者组相比，对照组中CC3435/GG2677的比例显著更高。总之，本研究中所调查的MDR1多态性与抗癫痫药物耐药性无关，但CC3435/GG2677复合基因型可能对抗癫痫药物反应有影响。
