Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in han chinese

被引:106
作者
Kwan, Patrick [1 ]
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
[1] Chinese Univ Hong Kong, Prince Wales Hosp, Dept Med & Therapeut, Div Neurol, Hong Kong, Hong Kong, Peoples R China
[2] Univ Hong Kong, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China
[3] United Christian Hosp, Dept Med & Geriatr, Div Neurol, Hong Kong, Hong Kong, Peoples R China
[4] Queen Elizabeth Hosp, Dept Med, Div Neurol, Hong Kong, Hong Kong, Peoples R China
[5] Prince Wales Hosp, Dept Paediat, Hong Kong, Hong Kong, Peoples R China
关键词
epilepsy; drug resistance; ABCB1; P-glycoprotein; pharmacogenetics; genetic polymorphisms; antiepileptic drugs; Chinese; MDR1; drug transporters;
D O I
10.1016/j.yebeh.2007.04.013
中图分类号
B84 [心理学]; C [社会科学总论]; Q98 [人类学];
学科分类号
03 ; 0303 ; 030303 ; 04 ; 0402 ;
摘要
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 polymorphisin in AED response in different ethnic populations. (c) 2007 Elsevier Inc. All rights reserved.
引用
收藏
页码:112 / 117
页数:6
相关论文
共 25 条
[1]   MDR1 pharmacogenetics:: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity [J].
Ameyaw, MM ;
Regateiro, F ;
Li, T ;
Liu, XH ;
Tariq, M ;
Mobarek, A ;
Thornton, N ;
Folayan, GO ;
Githang'a, J ;
Indalo, A ;
Ofori-Adjei, D ;
Price-Evans, DA ;
McLeod, HL .
PHARMACOGENETICS, 2001, 11 (03) :217-221
[2]  
[Anonymous], 1981, Epilepsia, V22, P489
[3]   PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].
不详 .
EPILEPSIA, 1989, 30 (04) :389-399
[4]   In genetic control of disease, does 'race' matter? [J].
Goldstein, DB ;
Hirschhorn, JN .
NATURE GENETICS, 2004, 36 (12) :1243-1244
[5]   C3435T polymorphism in the MDR1 gene affects the enterocyte expression level of CYP3A4 rather than Pgp in recipients of living-donor liver transplantation [J].
Goto, M ;
Masuda, S ;
Saito, H ;
Uemoto, S ;
Kiuchi, T ;
Tanaka, K ;
Inui, K .
PHARMACOGENETICS, 2002, 12 (06) :451-457
[6]   Genotype and allele frequencies of TPMT, NAT2, GST, SULT1A1 and MDR-1 in the Egyptian population [J].
Hamdy, SI ;
Hiratsuka, M ;
Narahara, K ;
Endo, N ;
El-Enany, M ;
Moursi, N ;
Ahmed, MSE ;
Mizugaki, M .
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, 2003, 55 (06) :560-569
[7]   Functional polymorphisms of the human multidrug-resistance gene:: Multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo [J].
Hoffmeyer, S ;
Burk, O ;
von Richter, O ;
Arnold, HP ;
Brockmöller, J ;
Johne, A ;
Cascorbi, I ;
Gerloff, T ;
Roots, I ;
Eichelbaum, M ;
Brinkmann, U .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (07) :3473-3478
[8]   Complex haplotypic effects of the ABCB1 gene on epilepsy treatment response [J].
Hung, CC ;
Tai, JJ ;
Lin, CJ ;
Lee, MJ ;
Liou, HH .
PHARMACOGENOMICS, 2005, 6 (04) :411-417
[9]   Lack of association between C3435T nucleotide MDR1 genetic polymorphism and multidrug-resistant epilepsy [J].
Kim, Dong Wook ;
Kim, Manho ;
Lee, Sang Kun ;
Kang, Rami ;
Lee, Seo-Young .
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2006, 15 (05) :344-347
[10]   Single nucleotide polymorphisms in the multidrug resistance 1 gene in Korean epileptics [J].
Kim, YO ;
Kim, MK ;
Woo, YJ ;
Lee, MC ;
Kim, JH ;
Park, KW ;
Kim, EY ;
Roh, YI ;
Kim, CJ .
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2006, 15 (01) :67-72