SCN1A, ABCC2 and UGT2B7 gene polymorphisms in association with individualized oxcarbazepine therapy.
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.
['Ma|Chun-Lai|CL|', 'Wu|Xun-Yi|XY|', 'Jiao|Zheng|Z|', 'Hong|Zhen|Z|', 'Wu|Zhi-Yuan|ZY|', 'Zhong|Ming-Kang|MK|']
D000328:Adult D000483:Alleles D000927:Anticonvulsants D002220:Carbamazepine D004305:Dose-Response Relationship, Drug D004827:Epilepsy D005260:Female D056726:Genetic Association Studies D005838:Genotype D014453:Glucuronosyltransferase D006239:Haplotypes D006801:Humans D008297:Male D008875:Middle Aged D000089762:Multidrug Resistance-Associated Protein 2 D027425:Multidrug Resistance-Associated Proteins D062550:NAV1.1 Voltage-Gated Sodium Channel D000078330:Oxcarbazepine D020641:Polymorphism, Single Nucleotide
SCN1A ABCC2 UGT2B7 oxcarbazepine SCN2A genetic polymorphisms epilepsy