Aim: 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. Original submitted 29 January 2014; Revision submitted 30 May 2014.
Keywords: ABCC2; SCN1A; SCN2A; antiepileptic drugs; drug resistance; epilepsy; pharmacogenomics; single nucleotide polymorphism.