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ABCB1基因C3435T多态性与汉族人群药物难治性癫痫的相关性

Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese.

作者信息

Kwan Patrick, Baum Larry, Wong Virginia, Ng Ping Wing, Lui Colin Ht, Sin Ngai Chuen, Hui Andrew C F, Yu Evelyn, Wong Lawrence K S

机构信息

Division of Neurology, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China.

出版信息

Epilepsy Behav. 2007 Aug;11(1):112-7. doi: 10.1016/j.yebeh.2007.04.013. Epub 2007 May 22.

DOI:10.1016/j.yebeh.2007.04.013
PMID:17521963
Abstract

There is accumulating evidence to suggest that overexpression of efflux drug transporters at the blood-brain barrier, by reducing antiepileptic drug (AED) accumulation in the seizure foci, contributes to drug resistance in epilepsy. P-glycoprotein, encoded by the ABCB1 gene, is the most studied drug transporter. There are conflicting data as to whether the CC genotype of the ABCB1 3435C>T polymorphism is associated with drug resistance in Caucasian patients with epilepsy. We investigated this association in ethnic Chinese. ABCB1 3435C>T was genotyped in 746 Han Chinese patients with epilepsy and 179 controls. Patients with drug-resistant epilepsy were more likely to have the TT genotype compared with those with drug-responsive epilepsy (16.7% vs 7.4%, odds ratio=2.5, 95% confidence interval=1.4-4.6, P=0.0009). Our results contrast with those of studies of Caucasians, and highlight the complexity of the possible role of this polymorphism in AED response in different ethnic populations.

摘要

越来越多的证据表明,血脑屏障处外排药物转运蛋白的过表达,通过减少抗癫痫药物(AED)在癫痫病灶中的蓄积,导致癫痫耐药。由ABCB1基因编码的P-糖蛋白是研究最多的药物转运蛋白。关于ABCB1 3435C>T多态性的CC基因型是否与白种人癫痫患者的耐药性相关,存在相互矛盾的数据。我们在华裔人群中研究了这种关联。对746例汉族癫痫患者和179例对照进行了ABCB1 3435C>T基因分型。与药物反应性癫痫患者相比,耐药性癫痫患者更可能具有TT基因型(16.7%对7.4%,优势比=2.5,95%置信区间=1.4 - 4.6,P = 0.0009)。我们的结果与对白种人的研究结果不同,并突出了这种多态性在不同种族人群AED反应中可能作用的复杂性。

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