Regular ArticleHuman Hepatic Microsomal Epoxide Hydrolase: Comparative Analysis of Polymorphic Expression☆
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ABCB1 c.3435C > T and EPHX1 c.416A > G polymorphisms influence plasma carbamazepine concentration, metabolism, and pharmacoresistance in epileptic patients
2021, GeneCitation Excerpt :Thus, EPHX1 (c.337 T > C and c.416A > G) mutation may affect CBZ pharmacokinetics and pharmacodynamics by changing the function of mEH (Rosa et al., 2016; Makmor-Bakry et al., 2009). EPHX1 416G/G genotype is an important covariate of CBZE clearance, the histidine to arginine substitution in exon 4 (416 A > G, rs2234922) of EPHX1 decreased the affinity of mEH to its substrate and resulted in the decreased enzyme activity of EPHX1 (Hassett et al., 1997; Hassett, 1994). The CBZD: CBZE ratio is considered a sensitive indicator of hydrolase catalytic activity.
Association of EPHX1 polymorphisms with plasma concentration of carbamazepine in epileptic patients: Systematic review and meta-analysis
2021, Journal of Clinical NeurosciencePassive Addiction and Teratogenic Effects
2018, Volpe's Neurology of the NewbornEffects of EPHX1, SCN1A and CYP3A4 genetic polymorphisms on plasma carbamazepine concentrations and pharmacoresistance in Chinese patients with epilepsy
2013, Epilepsy ResearchCitation Excerpt :The EPHX1 gene encoding mEH enzyme is also highly polymorphic. The two common variants, c.337T>C (rs1051740) and c.416A>G (rs2234922), have been demonstrated to change the catalytic activity of mEH both in vitro and in vivo (Hassett et al., 1994, 1997; Kitteringham et al., 1996; Nakajima et al., 2005). Patients with the variant c.337T>C or c.416A>G allele tended to have higher CBZ doses or lower CBZ concentration–dose ratios (CDRs) (Makmor-Bakry et al., 2009; Hung et al., 2012).
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Supported by NIH Grant ES-04978 to C.J.O.
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