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Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients

Epilepsy is one of the most common chronic neurodisorders in the pediatric age group. Despite the availability of over 20 anti-seizure medications (ASMs) on the market, drug-resistant epilepsy still affects one-third of individuals. Consequently, this research aimed to investigate the association be...

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Autores principales: Magadmi, Rania, Alyoubi, Reem, Moshrif, Tahani, Bakhshwin, Duaa, Suliman, Bandar A., Kamel, Fatemah, Jamal, Maha, Burzangi, Abdulhadi S., Basit, Sulman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10526247/
https://www.ncbi.nlm.nih.gov/pubmed/37760947
http://dx.doi.org/10.3390/biomedicines11092505
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author Magadmi, Rania
Alyoubi, Reem
Moshrif, Tahani
Bakhshwin, Duaa
Suliman, Bandar A.
Kamel, Fatemah
Jamal, Maha
Burzangi, Abdulhadi S.
Basit, Sulman
author_facet Magadmi, Rania
Alyoubi, Reem
Moshrif, Tahani
Bakhshwin, Duaa
Suliman, Bandar A.
Kamel, Fatemah
Jamal, Maha
Burzangi, Abdulhadi S.
Basit, Sulman
author_sort Magadmi, Rania
collection PubMed
description Epilepsy is one of the most common chronic neurodisorders in the pediatric age group. Despite the availability of over 20 anti-seizure medications (ASMs) on the market, drug-resistant epilepsy still affects one-third of individuals. Consequently, this research aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of the ATP-binding cassette subfamily B member 1 (ABCB1) gene in epileptic pediatric patients and their response to ASMs. This multicentric, cross-sectional study was conducted among Saudi children with epilepsy in Jeddah, Saudi Arabia. The polymorphism variants of ABCB1 rs1128503 at exon 12, rs2032582 at exon 21, and rs1045642 at exon 26 were genotyped using the Sanger sequencing technique. The study included 85 children with epilepsy: 43 patients demonstrated a good response to ASMs, while 42 patients exhibited a poor response. The results revealed that good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders. Additionally, haplotype analysis showed that the T-G-C haplotype at rs1128503, rs2032582, and rs1045642 was only present in poor responders. In conclusion, this study represents the first pharmacogenetic investigation of the ABCB1 gene in Saudi epileptic pediatric patients and demonstrates a significant association between rs1045642 and rs2032582 variants and patient responsiveness. Despite the small sample size, the results underscore the importance of personalized treatment for epileptic patients.
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spelling pubmed-105262472023-09-28 Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients Magadmi, Rania Alyoubi, Reem Moshrif, Tahani Bakhshwin, Duaa Suliman, Bandar A. Kamel, Fatemah Jamal, Maha Burzangi, Abdulhadi S. Basit, Sulman Biomedicines Article Epilepsy is one of the most common chronic neurodisorders in the pediatric age group. Despite the availability of over 20 anti-seizure medications (ASMs) on the market, drug-resistant epilepsy still affects one-third of individuals. Consequently, this research aimed to investigate the association between single-nucleotide polymorphisms (SNPs) of the ATP-binding cassette subfamily B member 1 (ABCB1) gene in epileptic pediatric patients and their response to ASMs. This multicentric, cross-sectional study was conducted among Saudi children with epilepsy in Jeddah, Saudi Arabia. The polymorphism variants of ABCB1 rs1128503 at exon 12, rs2032582 at exon 21, and rs1045642 at exon 26 were genotyped using the Sanger sequencing technique. The study included 85 children with epilepsy: 43 patients demonstrated a good response to ASMs, while 42 patients exhibited a poor response. The results revealed that good responders were significantly more likely to have the TT genotypes at rs1045642 and rs2032582 SNPs compared to poor responders. Additionally, haplotype analysis showed that the T-G-C haplotype at rs1128503, rs2032582, and rs1045642 was only present in poor responders. In conclusion, this study represents the first pharmacogenetic investigation of the ABCB1 gene in Saudi epileptic pediatric patients and demonstrates a significant association between rs1045642 and rs2032582 variants and patient responsiveness. Despite the small sample size, the results underscore the importance of personalized treatment for epileptic patients. MDPI 2023-09-11 /pmc/articles/PMC10526247/ /pubmed/37760947 http://dx.doi.org/10.3390/biomedicines11092505 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Magadmi, Rania
Alyoubi, Reem
Moshrif, Tahani
Bakhshwin, Duaa
Suliman, Bandar A.
Kamel, Fatemah
Jamal, Maha
Burzangi, Abdulhadi S.
Basit, Sulman
Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
title Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
title_full Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
title_fullStr Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
title_full_unstemmed Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
title_short Polymorphisms in the Drug Transporter Gene ABCB1 Are Associated with Drug Response in Saudi Epileptic Pediatric Patients
title_sort polymorphisms in the drug transporter gene abcb1 are associated with drug response in saudi epileptic pediatric patients
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10526247/
https://www.ncbi.nlm.nih.gov/pubmed/37760947
http://dx.doi.org/10.3390/biomedicines11092505
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