title: Association between ABCB1 C3435T polymorphism and drug-resistant epilepsy in Han Chinese.
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.
authors.affiliation: Division of Neurology, Department of Medicine and Therapeutics, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. patrickkwan@cuhk.edu.hk
authors.forename: Patrick
authors.initials: P
authors.lastname: Kwan
authors.forename: Larry
authors.initials: L
authors.lastname: Baum
authors.forename: Virginia
authors.initials: V
authors.lastname: Wong
authors.forename: Ping Wing
authors.initials: PW
authors.lastname: Ng
authors.forename: Colin Ht
authors.initials: CH
authors.lastname: Lui
authors.forename: Ngai Chuen
authors.initials: NC
authors.lastname: Sin
authors.forename: Andrew C F
authors.initials: AC
authors.lastname: Hui
authors.forename: Evelyn
authors.initials: E
authors.lastname: Yu
authors.forename: Lawrence K S
authors.initials: LK
authors.lastname: Wong
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000927:Anticonvulsants / Q000627:therapeutic use; D044466:Asian People / Q000235:genetics*; D016009:Chi-Square Distribution; D002681:China; D004351:Drug Resistance / Q000235:genetics*; D004827:Epilepsy / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D000927:Anticonvulsants