Cargando…

SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients

OBJECTIVE (S): From a genetic point of view, epilepsy is a polygenic multifactorial syndrome. The SCN1A and B genes belong to a family of genes that provide instructions for making sodium channels. Understanding the relevance of SCN1A and SCN1B gene polymorphisms to plasma concentration of carbamaze...

Descripción completa

Detalles Bibliográficos
Autores principales: Namazi, Soha, Azarpira, Negar, Javidnia, Katayoon, Emami, Mehrdad, Rahjoo, Rahimeh, Berahmand, Razieh, Borhani-Haghighi, Afshin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744361/
https://www.ncbi.nlm.nih.gov/pubmed/26877851
_version_ 1782414475071062016
author Namazi, Soha
Azarpira, Negar
Javidnia, Katayoon
Emami, Mehrdad
Rahjoo, Rahimeh
Berahmand, Razieh
Borhani-Haghighi, Afshin
author_facet Namazi, Soha
Azarpira, Negar
Javidnia, Katayoon
Emami, Mehrdad
Rahjoo, Rahimeh
Berahmand, Razieh
Borhani-Haghighi, Afshin
author_sort Namazi, Soha
collection PubMed
description OBJECTIVE (S): From a genetic point of view, epilepsy is a polygenic multifactorial syndrome. The SCN1A and B genes belong to a family of genes that provide instructions for making sodium channels. Understanding the relevance of SCN1A and SCN1B gene polymorphisms to plasma concentration of carbamazepine (CBZ) and ’its active metabolite carbamazepine 10, 11 epoxide (CBZE), may shed more light on inter-individual variations in response to CBZ. MATERIALS AND METHODS: In this cross-sectional study, genotype distribution and allele frequency of six non-synonymous exonic single nucleotide polymorphisms (SNPs) of the SCN1A and B genes were selected and determined using PCR-RFLP in 70 epileptic patients treated with CBZ for at least 6 months. The patients had no hepatic or renal diseases and received no medications known to have a major interaction with CBZ. Serum concentrations of CBZ and CBZE were measured using High-Performance Liquid Chromatography (HPLC). RESULTS: The AA, AG and GG alleles of SCN1A were found in 23, 37 and 10 patients, respectively. There were no statistically significant differences in the mean (± standard deviation) of plasma concentrations of CBZ (P=0.8) and CBZE (P=0.1) among these 3 groups. Likewise, there was no statistically significant relationship between SCN1A polymorphisms and CBZ concentration/dose ratio (P=0.7). A significant association was found between CBZ plasma level and CBZ concentration/dose with CBZ daily dose. All patients had the same genotype of SCN1B gene(CC). and no statistical analysis was performed. CONCLUSION: No significant association between SCN1A gene polymorphisms and plasma levels of CBZ and CBZE were found[u1].
format Online
Article
Text
id pubmed-4744361
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Mashhad University of Medical Sciences
record_format MEDLINE/PubMed
spelling pubmed-47443612016-02-12 SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients Namazi, Soha Azarpira, Negar Javidnia, Katayoon Emami, Mehrdad Rahjoo, Rahimeh Berahmand, Razieh Borhani-Haghighi, Afshin Iran J Basic Med Sci Original Article OBJECTIVE (S): From a genetic point of view, epilepsy is a polygenic multifactorial syndrome. The SCN1A and B genes belong to a family of genes that provide instructions for making sodium channels. Understanding the relevance of SCN1A and SCN1B gene polymorphisms to plasma concentration of carbamazepine (CBZ) and ’its active metabolite carbamazepine 10, 11 epoxide (CBZE), may shed more light on inter-individual variations in response to CBZ. MATERIALS AND METHODS: In this cross-sectional study, genotype distribution and allele frequency of six non-synonymous exonic single nucleotide polymorphisms (SNPs) of the SCN1A and B genes were selected and determined using PCR-RFLP in 70 epileptic patients treated with CBZ for at least 6 months. The patients had no hepatic or renal diseases and received no medications known to have a major interaction with CBZ. Serum concentrations of CBZ and CBZE were measured using High-Performance Liquid Chromatography (HPLC). RESULTS: The AA, AG and GG alleles of SCN1A were found in 23, 37 and 10 patients, respectively. There were no statistically significant differences in the mean (± standard deviation) of plasma concentrations of CBZ (P=0.8) and CBZE (P=0.1) among these 3 groups. Likewise, there was no statistically significant relationship between SCN1A polymorphisms and CBZ concentration/dose ratio (P=0.7). A significant association was found between CBZ plasma level and CBZ concentration/dose with CBZ daily dose. All patients had the same genotype of SCN1B gene(CC). and no statistical analysis was performed. CONCLUSION: No significant association between SCN1A gene polymorphisms and plasma levels of CBZ and CBZE were found[u1]. Mashhad University of Medical Sciences 2015-12 /pmc/articles/PMC4744361/ /pubmed/26877851 Text en Copyright: © Iranian Journal of Basic Medical Sciences http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Namazi, Soha
Azarpira, Negar
Javidnia, Katayoon
Emami, Mehrdad
Rahjoo, Rahimeh
Berahmand, Razieh
Borhani-Haghighi, Afshin
SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
title SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
title_full SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
title_fullStr SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
title_full_unstemmed SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
title_short SCN1A and SCN1B gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in Iranian epileptic patients
title_sort scn1a and scn1b gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in iranian epileptic patients
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744361/
https://www.ncbi.nlm.nih.gov/pubmed/26877851
work_keys_str_mv AT namazisoha scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients
AT azarpiranegar scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients
AT javidniakatayoon scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients
AT emamimehrdad scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients
AT rahjoorahimeh scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients
AT berahmandrazieh scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients
AT borhanihaghighiafshin scn1aandscn1bgenepolymorphismsandtheirassociationwithplasmaconcentrationsofcarbamazepineandcarbamazepine1011epoxideiniranianepilepticpatients