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Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española

INTRODUCTION. Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence...

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Autores principales: Nava-Cedeño, Desirée J., Alonso-Cerezo, M. Concepción, Sanz-García, Ancor, Vega-Zelaya, Lorena, Gordillo-Perdomo, Juan J., Toledo-Heras, María, Pastor-Gómez, Jesús, Torres-Díaz, Cristina, Pulido-Rivas, Paloma, García-Sola, Rafael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Viguera Editores (Evidenze Group) 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280709/
https://www.ncbi.nlm.nih.gov/pubmed/36285445
http://dx.doi.org/10.33588/rn.7509.2022133
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author Nava-Cedeño, Desirée J.
Alonso-Cerezo, M. Concepción
Sanz-García, Ancor
Vega-Zelaya, Lorena
Gordillo-Perdomo, Juan J.
Toledo-Heras, María
Pastor-Gómez, Jesús
Torres-Díaz, Cristina
Pulido-Rivas, Paloma
García-Sola, Rafael
author_facet Nava-Cedeño, Desirée J.
Alonso-Cerezo, M. Concepción
Sanz-García, Ancor
Vega-Zelaya, Lorena
Gordillo-Perdomo, Juan J.
Toledo-Heras, María
Pastor-Gómez, Jesús
Torres-Díaz, Cristina
Pulido-Rivas, Paloma
García-Sola, Rafael
author_sort Nava-Cedeño, Desirée J.
collection PubMed
description INTRODUCTION. Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence of SNPs in the genes encoding ABC proteins would affect the bioavailability of antiseizure drugs at the epileptogenic focus, giving rise to refractoriness. The aim of the present study was to evaluate the association of 13 polymorphisms in the ABCB1, ABCC2, ABCC5 and ABCG2 genes with drug-resistant epilepsy (DRE) in a Spanish population. SUBJECTS AND METHODS. A case-control study was conducted involving 327 patients with epilepsy: 227 resistant to drug therapy and 100 in whom their medication enabled them to control their symptoms, according to International League Against Epilepsy criteria. In the peripheral blood leukocyte DNA that was extracted, polymorphisms in the ABC transporter genes were studied. The iPlex® Gold and Mass ARRAY technology platform was used. The allele and genotypic frequencies of the case and control groups, p-value, odds ratio and 95% confidence intervals were compared. RESULTS. The allele and genotypic frequency of the present study was similar to that reported in population-based databases. For the SNPs studied, no significant differences (p > 0.05) were found in any of the inheritance models analysed. CONCLUSIONS. Our results suggest that there is no association between the polymorphisms analysed in the ABC genes and DRE in the Spanish population. Nevertheless, further studies will confirm or refute these results.
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spelling pubmed-102807092023-06-21 Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española Nava-Cedeño, Desirée J. Alonso-Cerezo, M. Concepción Sanz-García, Ancor Vega-Zelaya, Lorena Gordillo-Perdomo, Juan J. Toledo-Heras, María Pastor-Gómez, Jesús Torres-Díaz, Cristina Pulido-Rivas, Paloma García-Sola, Rafael Rev Neurol Original INTRODUCTION. Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence of SNPs in the genes encoding ABC proteins would affect the bioavailability of antiseizure drugs at the epileptogenic focus, giving rise to refractoriness. The aim of the present study was to evaluate the association of 13 polymorphisms in the ABCB1, ABCC2, ABCC5 and ABCG2 genes with drug-resistant epilepsy (DRE) in a Spanish population. SUBJECTS AND METHODS. A case-control study was conducted involving 327 patients with epilepsy: 227 resistant to drug therapy and 100 in whom their medication enabled them to control their symptoms, according to International League Against Epilepsy criteria. In the peripheral blood leukocyte DNA that was extracted, polymorphisms in the ABC transporter genes were studied. The iPlex® Gold and Mass ARRAY technology platform was used. The allele and genotypic frequencies of the case and control groups, p-value, odds ratio and 95% confidence intervals were compared. RESULTS. The allele and genotypic frequency of the present study was similar to that reported in population-based databases. For the SNPs studied, no significant differences (p > 0.05) were found in any of the inheritance models analysed. CONCLUSIONS. Our results suggest that there is no association between the polymorphisms analysed in the ABC genes and DRE in the Spanish population. Nevertheless, further studies will confirm or refute these results. Viguera Editores (Evidenze Group) 2022-11-01 /pmc/articles/PMC10280709/ /pubmed/36285445 http://dx.doi.org/10.33588/rn.7509.2022133 Text en Copyright: © Revista de Neurología https://creativecommons.org/licenses/by-nc-nd/4.0/Revista de Neurología trabaja bajo una licencia Creative Commons
spellingShingle Original
Nava-Cedeño, Desirée J.
Alonso-Cerezo, M. Concepción
Sanz-García, Ancor
Vega-Zelaya, Lorena
Gordillo-Perdomo, Juan J.
Toledo-Heras, María
Pastor-Gómez, Jesús
Torres-Díaz, Cristina
Pulido-Rivas, Paloma
García-Sola, Rafael
Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española
title Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española
title_full Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española
title_fullStr Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española
title_full_unstemmed Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española
title_short Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española
title_sort asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores abc con la epilepsia farmacorresistente en la población española
topic Original
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280709/
https://www.ncbi.nlm.nih.gov/pubmed/36285445
http://dx.doi.org/10.33588/rn.7509.2022133
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