Abstracts

Rationale: Recent evidences suggested that antiepileptic drug (AED) resistance is related with polymorphisms in the gene (MDR1, also known as ABCB1) coding for multidrug resistance protein 1. However, subsequent studies have failed to replicate similar result, and engendered lots of controversy. Recently, single nucleotide polymorphisms (SNPs) in non-coding region of MDR1 were reported. Here, we investigated whether the polymorphisms in the non-coding as well as coding region of MDR1 are associated with AED response in Korean epilepsy patients.Methods: DNA samples were collected from 382 patients between June 2004 and May 2005, and finally 266 cases were analyzed. Seven SNPs including non-coding regions such as p. 2353GA, p. 925AG, p. 709CGT, and p. 693TC as well as coding regions C1236T, G2677T/A, and C3435T in MDR1 gene were investigated. Patients were classified according to whether they had drug-resistance (NR group; N = 92) or drug-responsiveness (R group; N = 174). The frequencies of genotype, allele, and haplotype were compared between the NR and R groups.Results: There was no significant difference of genotype or allele frequency between drug-responsive and drug-resistant group in all seven SNPs. Haplotype analysis of three coding region also revealed no significant difference.Conclusions: In this study, there was no association between AED response and MDR1 SNPs of both non-coding and coding sequences in Korean epilepsy patients.