Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Shitao, Zhou, Liang, He, Chenglu, Wang, Dan, Cai, Xuemei, Yu, Yanying, Chen, Liling, Lu, Di, Bian, Ligong, Du, Sunbing, Wu, Qian, Han, Yanbing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
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
_version_ 1783726185487794176
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
work_keys_str_mv AT wangshitao theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT zhouliang theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT hechenglu theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT wangdan theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT caixuemei theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT yuyanying theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT chenliling theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT ludi theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT bianligong theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT dusunbing theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT wuqian theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT hanyanbing theassociationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT wangshitao associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT zhouliang associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT hechenglu associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT wangdan associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT caixuemei associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT yuyanying associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT chenliling associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT ludi associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT bianligong associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT dusunbing associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT wuqian associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy
AT hanyanbing associationbetweenstx1bpolymorphismsandtreatmentresponseinpatientswithepilepsy