Association between C3435T polymorphism of MDR1 gene and the incidence of drug-resistant epilepsy in the population of P
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Behavioral and Brain Functions Open Access
RESEARCH
Association between C3435T polymorphism of MDR1 gene and the incidence of drug‑resistant epilepsy in the population of Polish children Mariusz Stasiołek1, Hanna Romanowicz2, Katarzyna Połatyńska1, Maciej Chamielec1, Dominik Skalski3, Marianna Makowska4 and Beata Smolarz2*
Abstract Purpose: Epilepsy is a disease of neurological character. Approximately one third of epileptic patients demonstrate a drug-resistant phenotype, which is associated with the development of drug-resistant epilepsy. The multidrug resistance protein 1 and glycoprotein P, encoded by MDR1, play a significant role in the transmembrane transport of anti-epileptic agents. Single nucleotide polymorphism C3435T (rs1045642) within MDR1 gene may be associated with an increased expression of P-gp which affects the levels of antiepileptic drugs in plasma. The presented studies analysed the association between C3435T polymorphism of MDR1 gene and the incidence of drug-resistant epilepsy in the population of Polish children. Methods: C3435T polymorphism of MDR1 gene was analysed by the high resolution melting technique in a group of patients with drug-resistant (n = 106) and drug-responsive epilepsy (n = 67), as well as in non-epileptic children (n = 98) hospitalised at the Department of Neurology, Polish Mother’s Memorial Hospital in Lodz. Genotype and allele distributions were evaluated and their compatibility with the Hardy–Weinberg distribution was assessed by means of the χ2 test. Genotype and allele evaluation, regarding their relationship with a given feature, was supported by an analysis of odds ratio and 95 % confidence interval, calculated according to the logistic regression model. Results: An association was observed between the incidence rate of DRE and the presence of C allele in C3435T polymorphism of MDR1 gene, which may enhance the risk of the disease. The T allele may then play a protective role. No differences were found in the studied groups, regarding either genotype or allele distribution in reference to patient’s gender or concomitant diseases. Conclusion: Following the obtained results, C3435T polymorphism of MDR1 gene may be connected with the incidence of drug-resistant epilepsy in the population of Polish children. ISRCTN ISRCTN73824458. Registered 28th September 2014. Keywords: MDR1, Drug-resistant epilepsy, Drug-responsive epilepsy, Gene polymorphism, Children
*Correspondence: [email protected] 2 Laboratory of Cancer Genetics, Department of Clinical Pathomorphology, Polish Mother’s Memorial Hospital-Research Institute, Rzgowska 281/289, 93‑338 Lodz, Poland Full list of author information is available at the end of the article © 2016 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to t
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