Hung C.-C.Tai J.J.Kao P.-J.Lin M.-S.HORNG-HUEI LIOU2020-11-032020-11-032007https://www.scopus.com/inward/record.uri?eid=2-s2.0-35348848498&doi=10.2217%2f14622416.8.9.1151&partnerID=40&md5=9450be9b806c75ede483615c743285d5https://scholars.lib.ntu.edu.tw/handle/123456789/519182Objectives: The aim of this study was to investigate whether the polymorphisms in the NR1I2 and ABCB1 genes were associated with epilepsy treatment responses. Methods & results: NR1I2 and ABCB1 polymorphisms were genotyped in 114 drug-resistant epileptic patients, 213 seizure-free patients and 287 normal controls. Highly specific real-time PCR was applied to detect the variants by using TaqMan allelic specific probe. For a single gene test, it was demonstrated that 3435C>T in the ABCB1 gene had a significant effect on epilepsy treatment responses, but polymorphisms in the NR1I2 gene did not. Further analysis using a logistic regression model revealed that only 2677G>T and 3435C>T in the ABCB1 gene and their interaction term were associated with drug-resistant epilepsy after adjustment for etiology and epilepsy classification. In the present study, the polymorphisms in the NR1I2 gene were not significantly associated with epilepsy treatment responses. Conclusion: Our results indicated that 2677G>T and 3435C > T in the ABCB1 gene contributed to drug-resistant epilepsy. Although biologically plausible, the polymorphisms in NR1I2 investigated in the present study did not play a role in epilepsy treatment responses. Other unveiled genetic variants in the NR1I2 gene that may have the potential to affect ABCB1 gene expression are worth further investigation in future studies. ? 2007 Future Medicine Ltd.[SDGs]SDG3carbamazepine; cell nucleus receptor; clonazepam; gabapentin; lamotrigine; multidrug resistance protein 1; oxcarbazepine; phenobarbital; phenytoin; protein NR1I2; topiramate; unclassified drug; valproic acid; vigabatrin; absence; adult; article; controlled study; drug response; epilepsy; frontal lobe epilepsy; gene expression; gene interaction; generalized epilepsy; genetic association; genetic polymorphism; genetic variability; genotype; human; logistic regression analysis; major clinical study; myoclonus epilepsy; real time polymerase chain reaction; temporal lobe epilepsy; Adult; Anticonvulsants; Epilepsy; Genotype; Humans; Korea; Middle Aged; P-Glycoprotein; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Receptors, Steroid; Reference Values; Treatment Outcomejournal article10.2217/14622416.8.9.1151179248302-s2.0-35348848498