AIM: Associations between the effects of SCN1A, SCN2A, ABCC2 and UGT2B7 genetic polymorphisms and oxcarbazepine (OXC) maintenance doses in Han Chinese epileptic patients were investigated. PATIENTS & 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. CONCLUSION: 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.
AIM: Associations between the effects of SCN1A, SCN2A, ABCC2 and UGT2B7 genetic polymorphisms and oxcarbazepine (OXC) maintenance doses in Han Chinese epilepticpatients were investigated. PATIENTS & METHODS: Genetic polymorphisms were detected in 184 epilepticpatients 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. CONCLUSION:SCN1A, UGT2B7 and ABCC2 genetic polymorphisms are associated with OXC maintenance doses and may be useful for the personalization of OXC therapy in epilepticpatients. Further studies are needed. Original submitted 6 June 2014; Revision submitted 5 September 2014.
Authors: Cara Chang; Yichun Hu; Susan L Hogan; Nickie Mercke; Madeleine Gomez; Cindy O'Bryant; Daniel W Bowles; Blessy George; Xia Wen; Lauren M Aleksunes; Melanie S Joy Journal: Int J Mol Sci Date: 2017-06-22 Impact factor: 5.923