scn1a and scn1b gene polymorphisms and their association with plasma concentrations of carbamazepine and carbamazepine 10, 11 epoxide in iranian epileptic patients
نویسندگان
چکیده
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.
منابع مشابه
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 carbamazepine (CBZ) and its active metabolite carbamazepine 10, 11 epoxide (CBZE), may shed more light on ...
متن کاملSCN1A 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 carbamazepine (CBZ) and 'its active metabolite carbamazepine 10, 11 epoxide (CBZE), may shed more light on in...
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BACKGROUND Carbamazepine (CBZ) occasionally causes haematological disorders such as thrombocytopenia, and recently a case of oxcarbazepine (OXCBZ)-induced thrombocytopenia has been described. The aim of our study was blood platelet count determination in epileptic patients treated with CBZ and OXCBZ, and its relationship with the dose and serum levels of these drugs and its metabolites. METHO...
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چکیده ندارد.
Estimation of carbamazepine and carbamazepine-10,11-epoxide concentrations in plasma using mathematical equations generated with two carbamazepine immunoassays.
Carbamazepine is metabolized to an active metabolite known as carbamazepine-10,11-epoxide, or simply the "epoxide" metabolite. The presence of this metabolite can have clinically significant implications in therapeutic drug monitoring of carbamazepine, but accurate quantification of the epoxide metabolite is currently limited to chromatographic techniques. In this study, mathematical equations ...
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Plasma concentrations of carbamazepine were monitored in 9 pregnant epileptic patients treated with the drug alone at constant doses during pregnancy and for at least 3 months after delivery. In addition, plasma concentrations of the metabolite, carbamazepine 10,11-epoxide were measured in 6 of the 9 patients. Plasma carbamazepine concentrations were fairly stable during pregnancy, and carbamaz...
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عنوان ژورنال:
iranian journal of basic medical sciencesجلد ۱۸، شماره ۱۲، صفحات ۱۲۱۵-۱۲۲۰
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