title: Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy.
abstract: OBJECTIVE
  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.
  
  
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pharmacy, Huashan Hospital, Fudan University, 12 Wu Lu Mu Qi M Rd, Shanghai, PR China, 200040.
authors.forename: Chun-Lai
authors.initials: CL
authors.lastname: Ma
authors.forename: Xun-Yi
authors.initials: XY
authors.lastname: Wu
authors.forename: Jiao
authors.initials: J
authors.lastname: Zheng
authors.forename: Zhi-Yuan
authors.initials: ZY
authors.lastname: Wu
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hong
authors.forename: Ming-Kang
authors.initials: MK
authors.lastname: Zhong
mesh_terms: D000328:Adult; D000927:Anticonvulsants / Q000008:administration & dosage / Q000009:adverse effects; D002220:Carbamazepine / Q000008:administration & dosage / Q000009:adverse effects / Q000031:analogs & derivatives; D004351:Drug Resistance; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D062550:NAV1.1 Voltage-Gated Sodium Channel; D062551:NAV1.2 Voltage-Gated Sodium Channel; C000715087:ABCC2 protein, human; C568242:SCN1A protein, human; C568251:SCN2A protein, human; C476610:oxcarbamazepine
keywords: ABCC2; SCN1A; SCN2A; antiepileptic drugs; drug resistance; epilepsy; pharmacogenomics; single nucleotide polymorphism