Association Study Of C3435T Genetic Polymorphism Of MDR1 Gene With Efficacy Of Carbamazepine

Epilepsy is one of the common neurological disorders characterized by sudden, transient and recurrent disturbance of cerebral function caused by an abnormal neuronal discharge, and it affects the patients'health seriously. At present, drug therapy to control seizures is the main method, but the efficacy varies from person to person. About 25% patients are ineffective to all kinds of antiepileptic drug. A lot of research suggest that the phenomenon is associated with multidrug resistance gene. The main aim of this project is to find the frequency of the polymorphism in MDR1, and association of the polymorphisms with the efficacy and the blood concentration of Carbamazepine (CBZ).Objective:To investigate the genotypes of C3435T of MDR1 in peripheral blood of patients with epilepsy, and analyze the association between C3435T genetic polymorphism of MDR1 gene with efficacy of CBZ. Thus, the study could provide an evidence for the gene-directed rationalization and individualization of medication in the epileptic patients.Methods:Collected 80 epilepstic patients who took CBZ, detected the blood concentration of CBZ and observed the efficacy, divided them into responsive group and pharmacoresistance group. C3435T polymorphism was analyzed by the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. Compared the blood concentration of CBZ and genotypes in responsive group and pharmacoresistance group. And Compared the blood concentration of CBZ and efficacy in patients with different genotypes. The above comparison used of the chi-square test or T-test, and no significant difference were found.Results:Of 80 patients, responsive group were 49 patients, pharmacoresistance group were 31 patients.And CC genotype were 27, CT genotype were 33, TT genotype were 20. The control rate were 74.1% (CC), 54.5% (CT), 55% (TT). The CBZ blood concentration/kg in pharmacoresistance group was higher than the responsive group,but had no statistical significance.The difference of genotypes in the 2 groups was not marked. During the patients with different genotypes, the difference in the CBZ blood concentration/kg and efficacy was not significance.Conclusions:The CBZ blood concentration/kg and genotype had no statistical significance in the responsive group and the pharmacoresistance group. The CBZ blood concentration/kg and efficacy had no stastistical significance in the patients with different genotype. There was not associaton between C3435T genetic polymorphism of MDR1 gene and the efficacy of CBZ in patients with epilepsy.