The Association Between Polymorphisms and Treatment Response in Patients With Epilepsy.

Epilepsy is a debilitating brain disease with complex inheritance and frequent treatment resistance. However, the role of single nucleotide polymorphisms (SNPs) in epilepsy treatment remains unknown. This study aimed to explore the genetic association of SNPs with treatment response in patients with epilepsy in a Han Chinese population. We first examined the associations between SNPs and epilepsy in 1000 Han Chinese and the associations between SNPs and drug-resistant epilepsy in 450 subjects. Expression quantitative trait loci analysis was then conducted using 16 drug-resistant epileptic brain tissue samples and results from the BrainCloud database (http://eqtl.brainseq.org). The allelic frequencies of rs140820592 were different between the epilepsy and control groups ( = 0.002) after Bonferroni correction. The rs140820592 was associated with significantly lower epilepsy risk among 1,000 subjects in the dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.542, 95%CI = 0.358-0.819, = 0.004). The rs140820592 also conferred significantly lower risk of drug-resistant epilepsy among 450 subjects using the same dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.260, 95%CI = 0.103-0.653, = 0.004). Expression quantitative trait loci analysis revealed that rs140820592 was associated with expression level in drug-resistant epileptic brain tissues ( = 0.012), and this result was further verified in the BrainCloud database (http://eqtl.brainseq.org) ( = 2.3214 × 10). The rs140820592 may influence the risks of epilepsy and drug-resistant epilepsy by regulating expression in brain tissues.