title: SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized oxcarbazepine therapy.
abstract: OBJECTIVE
  Associations between the effects of SCN1A, SCN2A, ABCC2 and UGT2B7 genetic polymorphisms and oxcarbazepine (OXC) maintenance doses in Han Chinese epileptic patients were investigated.
  
  
  METHODS
  Genetic polymorphisms were detected in 184 epileptic patients receiving OXC monotherapy by high-resolution melting curve and TaqMan method.
  
  
  RESULTS
  Carriers of the SCN1A IVS5-91G>A, UGT2B7 c.802T>C and ABCC2 c.1249G>A variant alleles required significantly higher OXC maintenance doses than noncarriers (p < 0.05). Corresponding relative ln (concentration-dose ratios) values for SCN1A IVS5-91 variants differed by the genotypic order GG > GA > AA.
  
  
  CONCLUSIONS
  SCN1A, UGT2B7 and ABCC2 genetic polymorphisms are associated with OXC maintenance doses and may be useful for the personalization of OXC therapy in epileptic patients. Further studies are needed. Original submitted 6 June 2014; Revision submitted 5 September 2014.
authors.affiliation: Department of Pharmacy, Huashan Hospital, Fudan University, 12 Wu Lu Mu Qi M Rd, Shanghai 200040, China.
authors.forename: Chun-Lai
authors.initials: CL
authors.lastname: Ma
authors.forename: Xun-Yi
authors.initials: XY
authors.lastname: Wu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Jiao
authors.forename: Zhen
authors.initials: Z
authors.lastname: Hong
authors.forename: Zhi-Yuan
authors.initials: ZY
authors.lastname: Wu
authors.forename: Ming-Kang
authors.initials: MK
authors.lastname: Zhong
mesh_terms: D000328:Adult; D000483:Alleles; D000927:Anticonvulsants / Q000008:administration & dosage / Q000009:adverse effects; D002220:Carbamazepine / Q000008:administration & dosage / Q000009:adverse effects / Q000031:analogs & derivatives; D004305:Dose-Response Relationship, Drug; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; 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*; D000078330:Oxcarbazepine; D020641:Polymorphism, Single Nucleotide
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine; D014453:Glucuronosyltransferase; D000089762:Multidrug Resistance-Associated Protein 2; D027425:ATP-Binding Cassette, Sub-Family C Proteins; D062550:NAV1.1 Voltage-Gated Sodium Channel; D000078330:Oxcarbazepine; C000715087:ABCC2 protein, human; C568242:SCN1A protein, human; C491474:UGT2B7 protein, human
keywords: ABCC2; SCN1A; SCN2A; UGT2B7; epilepsy; genetic polymorphisms; oxcarbazepine