MDR1 Gene C3435T and C1236T Polymorphisms among Patients with Pharmacoresistant Epilepsy and Healthy Individuals

MDR1 gene C3435T and C1236T single-nucleotide polymorphisms (SNPs) have been studied in 59 Uzbek patients with epilepsy aged from 1 to 40 years. The patients were resistant to anticonvulsant drugs in therapeutic doses with no remission attained. The disease duration was about two years. The DNA samples were isolated from peripheral blood of patients and healthy individuals. The study found a statistically significant difference in the frequency of the ТТ genotype of the MDR1 gene С3435Т polymorphism, which was associated both with rapid and slow drug metabolism. In the TT genotype group, the share of the patients resistant to the therapy was almost 4.8 times higher than in the control group. Despite high OR=1.9, there were statistically insignificant differences in the frequency of С1236Т SNP. The 3435C – 1236T haplotype of MDR1 gene was associated with an increase the risk of drug-resistance development in epileptic patients.