ABCC2 rs2273697 and rs3740066 polymorphisms and resistance to antiepileptic drugs in Asia Pacific epilepsy cohorts. (March 2014) - Sha'ari, Hidayati Mohd
Aim: To examine the relevance of ABCC2 polymorphisms to drug responsiveness in epilepsy cohorts from the Asia Pacific region.Materials & methods: The rs2273697 and rs3740066 polymorphisms were genotyped in 2056 Malaysian (55%), Hong Kong (32%) and Japanese (13%) epilepsy patients.Results: Significant allele association of rs2273697 was observed in Chinese females with epilepsy, Malaysian Chinese patients with generalized seizure and Japanese patients with partial seizure for the AA versus GG genotype model and Malaysian Chinese patients with generalized seizure for the GA versus GG and autosomal dominant models. Significant association of the rs3740066 allele was observed in Malaysian females of Malay origin with cryptogenic epilepsy and Chinese patients with partial seizure and for genotypes in Malay patients with cryptogenic epilepsy for the CT versus CC and autosomal dominant genotype models. Significant results were observed for all haplotypes, but following Bonferroni correction, only the GT haplotype in Chinese patients remained significant.Conclusion: This study suggests that the GT haplotype might be a risk factor for resistance to medication in Chinese patients. Original submitted 14 August 2013; Revision submitted 25 November 2013