| Summary: | Epilepsy is a common neurological disorder with a prevalence of 1%, characterized
by more than two seizures (de Boer et al., 2013). Medically intractable to antiepileptic drug
(AED) treatment for epilepsy has led to the needs of pharmacogenomics study of AEDresistant in epilepsy patients. The aim of this study was to investigate the association of 17
candidate single nucleotide polymorphisms (SNPs) with susceptibility to epilepsy or drug
responsiveness in 1152 epilepsy patients and 1532 healthy controls. Out of 1152 patients,
579 were drug responders while the remaining were drug non-responders, receiving AED
for at least one year. Adjusted results by covariates showed significant associations
between BDNF rs6265, rs7103411 and rs7127507 (OR 2.1, 95% CI 1.5-3.0, p = 0.0001;
OR 0.5, 95% CI 0.4-0.7, p = 0.0003; and OR 0.6, 95% CI 0.4-0.8, p = 0.002, respectively),
CALHM1 rs11191692 (OR 0.6, 95% CI 0.4-0.8, p = 0.002), ASIC1 rs844347 (OR 1.7, 95%
CI 1.2-2.4, p = 0.002), and GRIK2 rs4840200 (OR 1.6, 95% CI 1.2-2.2, p = 0.001) with
susceptibility to epilepsy. The ABCC2 rs2273697 and the KCNAB1 rs2280032 showed
significant association with AED responsiveness (OR 6.0, 95% CI 2.1-17.2, p = 0.001 and
OR 0.4, 95% CI 0.3-0.7, p = 0.001, respectively). In conclusion, this study suggests that the
BDNF rs6265, rs7103411 and rs7127507, CALHM1 rs11191692, ASIC1 rs844347 and
GRIK2 rs4840200 might be risk variants for susceptibility to epilepsy as well as the ABCC2
rs2273697 and KCNAB1 rs2280032 for drug responsiveness. Further studies with larger
sample size are needed to prove these findings.
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