Abstract
PurposeEpilepsy 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.MethodsC3435T 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.ResultsAn 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.ConclusionFollowing 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.
Highlights
Epilepsy is one of the most frequent diseases of the nervous system, with prevalence rate estimated at approx. 1 % of the population in the world
An association was observed between the incidence rate of drug-resistant epilepsy (DRE) and the presence of C allele in C3435T polymorphism of multidrug resistance protein 1 (MDR1) gene, which may enhance the risk of the disease
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
Summary
Epilepsy is one of the most frequent diseases of the nervous system, with prevalence rate estimated at approx. 1 % of the population in the world. Epilepsy is one of the most frequent diseases of the nervous system, with prevalence rate estimated at approx. 1 % of the population in the world. The incidence of epilepsy is slightly higher in men than in women, while presenting significantly higher rates in children and in subjects above 65 years. The average incidence rate in the world population amounts to 50–70/100,000/year. In the Asian populations, e.g., in Japan, the incidence is 1.5/1000 and in India, 5.59/1000 [1, 2]. The basic treatment of epilepsy consists of a wide range of pharmacological substances—anticonvulsant medications. Despite the constant development of new anticonvulsants with various molecular mechanisms of action, the fully effective pharmacological treatment of epilepsy has not yet been reached. In some of the patients, so-called, DRE may occur, as a serious clinical problem
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