Polymorphisms in ABCB1 and EPHX1 genes influence drug effectiveness in refractory epilepsy: A retrospective study

Mariana Lopez-Gongora; Marta Miralles; Alejandro Martinez-Domenõ; Nuria Vidal; Jordi Espadaler; Antonio Escartin

doi:10.2217/fnl-2016-0026

Polymorphisms in ABCB1 and EPHX1 genes influence drug effectiveness in refractory epilepsy: A retrospective study

Mariana Lopez-Gongora, Marta Miralles, Alejandro Martinez-Domenõ, Nuria Vidal, Jordi Espadaler, Antonio Escartin

Department of Medicine

Research output: Contribution to journal › Article › Research › peer-review

Abstract

© 2017 Future Medicine Ltd. Aim: Thirty percent of epileptic patients are refractory to treatment. We investigated the association between the number of seizures in refractory epileptic patients and potential interactions between their antiepileptic medications (AEDs) and single nucleotide polymorphisms in genes ABCB1, CYP2C9 and EPHX1. Methods: Thirty-three adult patients were included and tested for genetic variations using the Neuropharmagen® test. Retrospective data on AED therapy and number of seizures during the 12 months before inclusion were extracted from clinical records. Results: Patients displaying potential single nucleotide polymorphisms × AED interactions had a median of 14.5 seizures during the previous 12 months (IQR 5.5-105.0), compared to a median of 7.0 seizures (IQR 4.0-12.0) in patients without these interactions (univariate p = 0.051, adjusted p = 0.034). Conclusion: Refractory patients carrying genetic variations potentially affecting their AED medication experienced a significantly higher number of seizures. Thus, genotyping could help to better control epilepsy in some refractory patients.

Original language	English
Pages (from-to)	141-148
Journal	Future Neurology
Volume	12
Issue number	3
DOIs	https://doi.org/10.2217/fnl-2016-0026
Publication status	Published - 1 Aug 2017

Keywords

SNP
carbamazepine
levetiracetam
personalized medicine
pharmacogenetics
phenytoin

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10.2217/fnl-2016-0026

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title = "Polymorphisms in ABCB1 and EPHX1 genes influence drug effectiveness in refractory epilepsy: A retrospective study",

abstract = "{\textcopyright} 2017 Future Medicine Ltd. Aim: Thirty percent of epileptic patients are refractory to treatment. We investigated the association between the number of seizures in refractory epileptic patients and potential interactions between their antiepileptic medications (AEDs) and single nucleotide polymorphisms in genes ABCB1, CYP2C9 and EPHX1. Methods: Thirty-three adult patients were included and tested for genetic variations using the Neuropharmagen{\textregistered} test. Retrospective data on AED therapy and number of seizures during the 12 months before inclusion were extracted from clinical records. Results: Patients displaying potential single nucleotide polymorphisms × AED interactions had a median of 14.5 seizures during the previous 12 months (IQR 5.5-105.0), compared to a median of 7.0 seizures (IQR 4.0-12.0) in patients without these interactions (univariate p = 0.051, adjusted p = 0.034). Conclusion: Refractory patients carrying genetic variations potentially affecting their AED medication experienced a significantly higher number of seizures. Thus, genotyping could help to better control epilepsy in some refractory patients.",

keywords = "SNP, carbamazepine, levetiracetam, personalized medicine, pharmacogenetics, phenytoin",

author = "Mariana Lopez-Gongora and Marta Miralles and Alejandro Martinez-Domen{\~o} and Nuria Vidal and Jordi Espadaler and Antonio Escartin",

year = "2017",

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doi = "10.2217/fnl-2016-0026",

language = "English",

volume = "12",

pages = "141--148",

journal = "Future Neurology",

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T1 - Polymorphisms in ABCB1 and EPHX1 genes influence drug effectiveness in refractory epilepsy: A retrospective study

AU - Lopez-Gongora, Mariana

AU - Miralles, Marta

AU - Martinez-Domenõ, Alejandro

AU - Vidal, Nuria

AU - Espadaler, Jordi

AU - Escartin, Antonio

PY - 2017/8/1

Y1 - 2017/8/1

N2 - © 2017 Future Medicine Ltd. Aim: Thirty percent of epileptic patients are refractory to treatment. We investigated the association between the number of seizures in refractory epileptic patients and potential interactions between their antiepileptic medications (AEDs) and single nucleotide polymorphisms in genes ABCB1, CYP2C9 and EPHX1. Methods: Thirty-three adult patients were included and tested for genetic variations using the Neuropharmagen® test. Retrospective data on AED therapy and number of seizures during the 12 months before inclusion were extracted from clinical records. Results: Patients displaying potential single nucleotide polymorphisms × AED interactions had a median of 14.5 seizures during the previous 12 months (IQR 5.5-105.0), compared to a median of 7.0 seizures (IQR 4.0-12.0) in patients without these interactions (univariate p = 0.051, adjusted p = 0.034). Conclusion: Refractory patients carrying genetic variations potentially affecting their AED medication experienced a significantly higher number of seizures. Thus, genotyping could help to better control epilepsy in some refractory patients.

AB - © 2017 Future Medicine Ltd. Aim: Thirty percent of epileptic patients are refractory to treatment. We investigated the association between the number of seizures in refractory epileptic patients and potential interactions between their antiepileptic medications (AEDs) and single nucleotide polymorphisms in genes ABCB1, CYP2C9 and EPHX1. Methods: Thirty-three adult patients were included and tested for genetic variations using the Neuropharmagen® test. Retrospective data on AED therapy and number of seizures during the 12 months before inclusion were extracted from clinical records. Results: Patients displaying potential single nucleotide polymorphisms × AED interactions had a median of 14.5 seizures during the previous 12 months (IQR 5.5-105.0), compared to a median of 7.0 seizures (IQR 4.0-12.0) in patients without these interactions (univariate p = 0.051, adjusted p = 0.034). Conclusion: Refractory patients carrying genetic variations potentially affecting their AED medication experienced a significantly higher number of seizures. Thus, genotyping could help to better control epilepsy in some refractory patients.

KW - SNP

KW - carbamazepine

KW - levetiracetam

KW - personalized medicine

KW - pharmacogenetics

KW - phenytoin

U2 - 10.2217/fnl-2016-0026

DO - 10.2217/fnl-2016-0026

M3 - Article

SN - 1479-6708

VL - 12

SP - 141

EP - 148

JO - Future Neurology

JF - Future Neurology

IS - 3

ER -

Polymorphisms in ABCB1 and EPHX1 genes influence drug effectiveness in refractory epilepsy: A retrospective study

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Keywords

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