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Research Article

Relevance of NR1I2 Variants on Carbamazepine Therapy in Mexican Mestizos with Epilepsy at a Tertiary-Care Hospital

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Pages 983-996 | Received 23 Jun 2021, Accepted 03 Sep 2021, Published online: 06 Oct 2021

References

  • WHO . Model list of essential medicines (2019). http://apps.who.int/iris/bitstream/handle/10665/325771/WHO-MVP-EMP-IAU-2019.06-eng.pdf?ua=1
  • Gierbolini J , GiarratanoM , BenbadisSR. Carbamazepine-related antiepileptic drugs for the treatment of epilepsy-a comparative review. Expert Opin. Pharmacother.17(7), 885–888 (2016).
  • Porter R , MeldrumB. Fármacos anticonvulsivos. In: Farmacología Básica y Clínica.KatzungB, MastersS, TrevorA ( Eds). The McGraw-Hill Companies, Inc., USA, 397–407 (2010).
  • Bertilsson L , TomsonT. Clinical pharmacokinetics and pharmacological effects of carbamazepine and carbamazepine-10,11-epoxide. Clin. Pharmacokinet.11(3), 177–198 (1986).
  • Burton M , ShawL , SchentagJ , EvansWE. Applied pharmacokinetics & pharmacodynamics principles of therapeutic drug monitoring. Am. J. Pharm. Educ.70(6), 148 (2006).
  • Patsalos PN . Antiepileptic Drug Interactions.Springer, London, UK, 15–21 (2015).
  • Thorn CF , LeckbandSG , KelsoeJet al. PharmGKB summary: carbamazepine pathway. Pharmacogenet. Genomics21(12), 906–910 (2011).
  • Monroy-Jaramillo N , Fricke-GalindoI , Ortega-VázquezA , Jung-CookH , LLerenaA , López-LópezM. Pharmacogenetic potential biomarkers for carbamazepine adverse drug reactions and clinical response. Drug Metabol. Drug Interact.29(2), 67–79 (2014).
  • Awasthi S , HalleneKL , FazioVet al. RLIP76, a non-ABC transporter, and drug resistance in epilepsy. BMC Neurosci.6, 61 (2005).
  • Kim W-J , LeeJH , YiJet al. A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy. Pharmacogenet. Genomics20(4), 249–256 (2010).
  • Marino SE , BirnbaumAK , LeppikIEet al. Steady-state carbamazepine pharmacokinetics following oral and stable-labeled intravenous administration in epilepsy patients: effects of race and sex. Clin. Pharmacol. Ther.91(3), 483–488 (2012).
  • Chbili C , SaguemS , ChbiliCet al. Clinical research The relationship between pharmacokinetic parameters of carbamazepine and therapeutic response in epileptic patients. Arch. Med. Sci.13, 353–360 (2017).
  • Iannaccone T , SellittoC , ManzoVet al. Pharmacogenetics of carbamazepine and valproate: focus on polymorphisms of drug metabolizing enzymes and transporters. Pharmaceuticals (Basel)14(3), 204 (2021).
  • Fricke-Galindo I , Ortega-VázquezA , Monroy-JaramilloNet al. Allele and genotype frequencies of genes relevant to anti-epileptic drug therapy in Mexican-Mestizo healthy volunteers. Pharmacogenomics17(17), 1913–1930 (2016).
  • Chbili C , FathallahN , LaouaniAet al. Effects of EPHX1 and CYP3A4*22 genetic polymorphisms on carbamazepine metabolism and drug response among Tunisian epileptic patients. J. Neurogenet.30(1), 16–21 (2016).
  • Puranik YG , BirnbaumAK , MarinoSEet al. Association of carbamazepine major metabolism and transport pathway gene polymorphisms and pharmacokinetics in patients with epilepsy. Pharmacogenomics14(1), 35–45 (2013).
  • Ma C-L , JiaoZ , WuX-Y , HongZ , WuZ-Y , ZhongM-K. Association between PK/PD-involved gene polymorphisms and carbamazepine-individualized therapy. Pharmacogenomics16(13), 1499–1512 (2015).
  • Hu T , ZengX , TianT , LiuJ. Association of EPHX1 polymorphisms with plasma concentration of carbamazepine in epileptic patients: systematic review and meta-analysis. J. Clin. Neurosci.91, 159–171 (2021).
  • Zhao GX , ZhangZ , CaiWK , ShenML , WangP , HeGH. Associations between CYP3A4, CYP3A5 and SCN1A polymorphisms and carbamazepine metabolism in epilepsy: a meta-analysis. Epilepsy Res.173, 106615 (2021).
  • Subenthiran S , AbdullahNR , JosephJPet al. Linkage disequilibrium between polymorphisms of ABCB1 and ABCC2 to predict the treatment outcome of Malaysians with complex partial seizures on treatment with carbamazepine mono-therapy at the Kuala Lumpur Hospital. PLoS ONE8(5), e64827 (2013).
  • Qu J , ZhouB-T , YinJ-Yet al. ABCC2 polymorphisms and haplotype are associated with drug resistance in Chinese epileptic patients. CNS Neurosci. Ther.18(8), 647–651 (2012).
  • Zhou B , ZhouQ , YinJ , LiG , XuX , QuJ. Comprehensive analysis of the association of SCN1A gene polymorphisms with the retention rate of carbamazepine following monotherapy for new-onset focal seizures in the Chinese Han population. Clin. Exp. Pharmacol. Physiol.39, 379–384 (2012).
  • Lakhan R , KumariR , MisraUK , KalitaJ , PradhanS , MittalB. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br. J. Clin. Pharmacol.68(2), 214–220 (2009).
  • Sterjev Z , KitevaG , CvetkovskaEet al. Influence of the SCN1A IVS5N + 5 G >A polymorphism on therapy with carbamazepine for epilepsy. Balkan J. Med. Genet.15(1), 19–24 (2012).
  • Zhang X , LiuJ , YeJ. Association between SCN1A polymorphism and carbamazepine responsiveness in epilepsy: a meta-analysis. Epilepsy Res.176, 106627 (2021).
  • Lamba J , LambaV , SchuetzE. Genetic variants of PXR (NR1I2) and CAR (NR1I3) and their implications in drug metabolism and pharmacogenetics. Curr. Drug Metab.6(4), 369–383 (2005).
  • Lamba J , LambaV , StromS , VenkataramananR , SchuetzE. Novel single nucleotide polymorphisms in the promoter and intron 1 of human pregnane X receptor/NR1I2 and their association with CYP3A4 expression. Drug Metab. Dispos.36(1), 169–181 (2008).
  • Saruwatari J , YoshidaS , TsudaYet al. Pregnane X receptor and hepatocyte nuclear factor 4α polymorphisms are cooperatively associated with carbamazepine autoinduction. Pharmacogenet. Genomics24(3), 162–171 (2014).
  • Moreno-Estrada A , GignouxCR , Fernández-LópezJCet al. Human genetics. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits. Science344(6189), 1280–1285 (2014).
  • Martínez-Juárez IE , Lóopez-ZapataR , Gómez-AriasBet al. Epilepsia farmacorresistente: uso de la nueva definición y factores de riesgo relacionados. Estudio en población Mexicana de un centro de tercer nivel. Rev. Neurol.54(3), 159–166 (2012).
  • Barrett JC , FryB , MallerJ , DalyMJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics21(2), 263–265 (2005).
  • Purcell S , NealeB , Todd-BrownKet al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet.81(3), 559–575 (2007).
  • Faul F , ErdfelderE , LangA-G , BuchnerA. G*Power 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav. Res. Methods.39(2), 175–191 (2007).
  • Faul F , ErdfelderE , BuchnerA , LangA-G. Statistical power analyses using G*Power 3.1: tests for correlation and regression analyses. Behav. Res. Methods.41(4), 1149–1160 (2009).
  • Besag FM , BerryDJ , PoolF , NewberyJE , SubelB. Carbamazepine toxicity with lamotrigine: pharmacokinetic or pharmacodynamic interaction?Epilepsia39(2), 183–187 (1998).
  • Warner T , PatsalosPN , PrevettM , ElyasAA , DuncanJS. Lamotrigine-induced carbamazepine toxicity: an interaction with carbamazepine-10,11-epoxide. Epilepsy Res.11(2), 147–150 (1992).
  • Weiner CP , MasonC. Drugs for Pregnant and Lactating Women.Elsevier, The Netherlands, 91–186 (2019).
  • Kliewer SA , GoodwinB , WillsonTM. The nuclear pregnane X receptor: a key regulator of xenobiotic metabolism. Endocr. Rev.23(5), 687–702 (2002).
  • Tolson AH , WangH. Regulation of drug-metabolizing enzymes by xenobiotic receptors: PXR and CAR. Adv. Drug Deliv. Rev.62(13), 1238–1249 (2010).
  • Ke X-J , ChengY-F , YuN , DiQ. Effects of carbamazepine on the P-gp and CYP3A expression correlated with PXR or NF-κB activity in the bEnd.3 cells. Neurosci. Lett.690, 48–55 (2019).
  • Yu N , ZhangY-F , ZhangK , ChengY-F , MaH-Y , DiQ. Pregnane X receptor not nuclear factor-kappa B up-regulates P-glycoprotein expression in the brain of chronic epileptic rats induced by kainic acid. Neurochem. Res.42(8), 2167–2177 (2017).
  • Oscarson M , ZangerUM , RifkiOF , KleinK , EichelbaumM , MeyerUA. Transcriptional profiling of genes induced in the livers of patients treated with carbamazepine. Clin. Pharmacol. Ther.80(5), (2006).
  • Hustert E , ZibatA , Presecan-SiedelEet al. Natural protein variants of pregnane X receptor with altered transactivation activity toward CYP3A4. Drug Metab. Dispos.29(11), 1454–1459 (2001).
  • Zhang J , KuehlP , GreenEDet al. The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants. Pharmacogenetics11(7), 555–572 (2001).
  • Hung C-C , JenTai J , KaoP-J , LinM-S , LiouH-H. Association of polymorphisms in NR1I2 and ABCB1 genes with epilepsy treatment responses. Pharmacogenomics8(9), 1151–1158 (2007).
  • Haerian BS , MohamedE , LimKet al. Association of ABCB1 and NR1I2 polymorphisms with response to carbamazepine in Malaysian epilepsy patients. FASEB J.24(Suppl. 1), 756.3–756.3 (2010).
  • Abe T , SeoT , IshitsuT , NakagawaT , HoriM , NakagawaK. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br. J. Clin. Pharmacol.66(2), 304–307 (2008).
  • Zhou B-T , ZhouQ-H , YinJ-Yet al. Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up. CNS Neurosci. Ther.18(7), 566–572 (2012).
  • Tate SK , DepondtC , SisodiyaSMet al. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. PNAS102(15), 5507–5512 (2005).
  • Hung C-C , ChangW-L , HoJ-Let al. Association of polymorphisms in EPHX1, UGT2B7, ABCB1, ABCC2, SCN1A and SCN2A genes with carbamazepine therapy optimization. Pharmacogenomics13(2), 159–169 (2012).
  • Makmor-Bakry M , SillsGJ , HitirisN , ButlerE , WilsonEA , BrodieMJ. Genetic variants in microsomal epoxide hydrolase influence carbamazepine dosing. Clin. Neuropharmacol.32(4), 205–212 (2009).

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