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The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy
Background: Epilepsy is a debilitating brain disease with complex inheritance and frequent treatment resistance. However, the role of STX1B single nucleotide polymorphisms (SNPs) in epilepsy treatment remains unknown. Objective: This study aimed to explore the genetic association of STX1B SNPs with...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299048/ https://www.ncbi.nlm.nih.gov/pubmed/34305610 http://dx.doi.org/10.3389/fphar.2021.701575 |
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author | Wang, Shitao Zhou, Liang He, Chenglu Wang, Dan Cai, Xuemei Yu, Yanying Chen, Liling Lu, Di Bian, Ligong Du, Sunbing Wu, Qian Han, Yanbing |
author_facet | Wang, Shitao Zhou, Liang He, Chenglu Wang, Dan Cai, Xuemei Yu, Yanying Chen, Liling Lu, Di Bian, Ligong Du, Sunbing Wu, Qian Han, Yanbing |
author_sort | Wang, Shitao |
collection | PubMed |
description | Background: Epilepsy is a debilitating brain disease with complex inheritance and frequent treatment resistance. However, the role of STX1B single nucleotide polymorphisms (SNPs) in epilepsy treatment remains unknown. Objective: This study aimed to explore the genetic association of STX1B SNPs with treatment response in patients with epilepsy in a Han Chinese population. Methods: We first examined the associations between STX1B SNPs and epilepsy in 1000 Han Chinese and the associations between STX1B SNPs and drug-resistant epilepsy in 450 subjects. Expression quantitative trait loci analysis was then conducted using 16 drug-resistant epileptic brain tissue samples and results from the BrainCloud database (http://eqtl.brainseq.org). Results: The allelic frequencies of rs140820592 were different between the epilepsy and control groups (p = 0.002) after Bonferroni correction. The rs140820592 was associated with significantly lower epilepsy risk among 1,000 subjects in the dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.542, 95%CI = 0.358–0.819, p = 0.004). The rs140820592 also conferred significantly lower risk of drug-resistant epilepsy among 450 subjects using the same dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.260, 95%CI = 0.103–0.653, p = 0.004). Expression quantitative trait loci analysis revealed that rs140820592 was associated with STX1B expression level in drug-resistant epileptic brain tissues (p = 0.012), and this result was further verified in the BrainCloud database (http://eqtl.brainseq.org) (p = 2.3214 × 10(–5)). Conclusion: The STX1B rs140820592 may influence the risks of epilepsy and drug-resistant epilepsy by regulating STX1B expression in brain tissues. |
format | Online Article Text |
id | pubmed-8299048 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82990482021-07-24 The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy Wang, Shitao Zhou, Liang He, Chenglu Wang, Dan Cai, Xuemei Yu, Yanying Chen, Liling Lu, Di Bian, Ligong Du, Sunbing Wu, Qian Han, Yanbing Front Pharmacol Pharmacology Background: Epilepsy is a debilitating brain disease with complex inheritance and frequent treatment resistance. However, the role of STX1B single nucleotide polymorphisms (SNPs) in epilepsy treatment remains unknown. Objective: This study aimed to explore the genetic association of STX1B SNPs with treatment response in patients with epilepsy in a Han Chinese population. Methods: We first examined the associations between STX1B SNPs and epilepsy in 1000 Han Chinese and the associations between STX1B SNPs and drug-resistant epilepsy in 450 subjects. Expression quantitative trait loci analysis was then conducted using 16 drug-resistant epileptic brain tissue samples and results from the BrainCloud database (http://eqtl.brainseq.org). Results: The allelic frequencies of rs140820592 were different between the epilepsy and control groups (p = 0.002) after Bonferroni correction. The rs140820592 was associated with significantly lower epilepsy risk among 1,000 subjects in the dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.542, 95%CI = 0.358–0.819, p = 0.004). The rs140820592 also conferred significantly lower risk of drug-resistant epilepsy among 450 subjects using the same dominant model after adjusting for gender and age and Bonferroni correction (OR = 0.260, 95%CI = 0.103–0.653, p = 0.004). Expression quantitative trait loci analysis revealed that rs140820592 was associated with STX1B expression level in drug-resistant epileptic brain tissues (p = 0.012), and this result was further verified in the BrainCloud database (http://eqtl.brainseq.org) (p = 2.3214 × 10(–5)). Conclusion: The STX1B rs140820592 may influence the risks of epilepsy and drug-resistant epilepsy by regulating STX1B expression in brain tissues. Frontiers Media S.A. 2021-07-09 /pmc/articles/PMC8299048/ /pubmed/34305610 http://dx.doi.org/10.3389/fphar.2021.701575 Text en Copyright © 2021 Wang, Zhou, He, Wang, Cai, Yu, Chen, Lu, Bian, Du, Wu and Han. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pharmacology Wang, Shitao Zhou, Liang He, Chenglu Wang, Dan Cai, Xuemei Yu, Yanying Chen, Liling Lu, Di Bian, Ligong Du, Sunbing Wu, Qian Han, Yanbing The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy |
title | The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy |
title_full | The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy |
title_fullStr | The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy |
title_full_unstemmed | The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy |
title_short | The Association Between STX1B Polymorphisms and Treatment Response in Patients With Epilepsy |
title_sort | association between stx1b polymorphisms and treatment response in patients with epilepsy |
topic | Pharmacology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8299048/ https://www.ncbi.nlm.nih.gov/pubmed/34305610 http://dx.doi.org/10.3389/fphar.2021.701575 |
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