The purpose of this study was to investigate the potential impact of SCN1A, SCN2A and ABCC2 gene polymorphisms on the response to antiepileptic drugs in Chinese Han patients with epilepsy.Patients & methods:
Genetic polymorphisms in the candidate genes were detected in 453 Chinese epileptic patients by high-resolution melting curve and TaqMan methods.Results:
The SCN1A IVS5-91G>A AA genotype and the ABCC2 c.1249G>A GA genotype were significantly associated with carbamazepine/oxcarbamazepine (CBZ/OXC)-resistant epilepsy (p =0.002 and p = 0.036, respectively). The frequencies of haplotypes AA (SCN1A gene) and AC (ABCC2 gene) in drug-resistant patients were significantly higher than those in responsive patients (p = 0.002 and p = 0.005, respectively).Conclusion:
This study suggested that SCN1A and ABCC2 polymorphisms may be associated with the response to CBZ/OXC in the Chinese Han population, indicating that they could serve as predictors of drug response.