土耳其癫痫患者中MDR1（C3435T）基因多态性与卡马西平耐药性的关联
Association of MDR1 (C3435T) polymorphism and resistance to carbamazepine in epileptic patients from Turkey.
作者信息
Ozgon Gulay Oner, Bebek Nerses, Gul Gunay, Cine Naci
机构信息
Department of Genetics, Institute for Experimental Medical Research, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
出版信息
Eur Neurol. 2008;59(1-2):67-70. doi: 10.1159/000109264. Epub 2007 Oct 4.
BACKGROUND AND AIMS
We investigated the prevalence of this multidrug resistance 1 gene (MDR1) polymorphism in drug-responsive versus drug-resistant epilepsy patients treated with carbamazepine (CBZ), which is a substrate of this protein.
METHODS
We genotyped the C3435T variant of MDR1 in 97 patients treated with CBZ monotherapy who had been on stable doses for more than 1 month. Our control group included 174 healthy individuals. Plasma CBZ concentrations were also measured using fluorescence polarization immunoassay.
RESULTS
We could not demonstrate any statistically significant relationship with the genotypes among drug-resistant patients (n = 44). The frequency of the homozygous mutant (TT) genotype was 15% in drug-responsive patients, 11.3% in drug-resistant patients and 25.8% in the control group. We also did not observe any significant correlation between the presence of a specific allele and CBZ plasma level/dose index.
CONCLUSION
Our study did not support any significant association between the MDR1 (C3435T) polymorphism and resistance to CBZ in epilepsy patients from Turkey.
背景与目的
我们研究了多药耐药1基因（MDR1）多态性在接受卡马西平（CBZ，该蛋白的一种底物）治疗的药物反应性癫痫患者与耐药性癫痫患者中的流行情况。
方法
我们对97例接受CBZ单药治疗且已服用稳定剂量超过1个月的患者的MDR1基因C3435T变体进行了基因分型。我们的对照组包括174名健康个体。还使用荧光偏振免疫分析法测量了血浆CBZ浓度。
结果
我们未能证明耐药患者（n = 44）的基因型之间存在任何统计学上的显著关系。纯合突变（TT）基因型在药物反应性患者中的频率为15%，在耐药性患者中为11.3%，在对照组中为25.8%。我们也未观察到特定等位基因的存在与CBZ血浆水平/剂量指数之间存在任何显著相关性。
结论
我们的研究不支持土耳其癫痫患者中MDR1（C3435T）多态性与对CBZ耐药之间存在任何显著关联。
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