Syntaxin 1A gene polymorphism in multiple sclerosis: a case–control study

Mohammed I. Oraby, Rasha H. Soliman, Noha A. Abdel Kader, Esraa M. Abdul Galil, Mohammed M. Masoud
{"title":"Syntaxin 1A gene polymorphism in multiple sclerosis: a case–control study","authors":"Mohammed I. Oraby, Rasha H. Soliman, Noha A. Abdel Kader, Esraa M. Abdul Galil, Mohammed M. Masoud","doi":"10.1186/s41983-024-00811-1","DOIUrl":null,"url":null,"abstract":"Syntaxin 1A is a member of a membrane-integrated nervous system-specific protein superfamily involved in the neuromediator release from synaptic vesicles and one of the proteins included in axonal integrity. Studies that discussed the role of Syntaxin 1A in multiple sclerosis are few and limited. Gene studying sometimes shows unexpected results in different populations. The aim of this work was to investigate Syntaxin 1A genetic polymorphism (rs1569061) in a sample of Egyptian patients with MS and the relation between Syntaxin 1A gene polymorphism and disease course and disability. A case–control study included 150 subjects; 75 Egyptian MS patients of different clinical courses and 75 age and sex matched healthy controls. Patients were subjected to clinical evaluation, assessment of disability, and cognition. Both patient and control groups were subjected to Syntaxin 1A genotyping. There was no significant difference between different genotypes distribution for Syntaxin 1A (rs 1569061) between MS patients and controls. No significant difference was found between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding EDSS or results of BICAMS). There was no statistically significant difference between syntaxin genotypes among cases of MS regarding demographic or clinical characteristics of the disease. Here we show no statistically significant difference between MS patients and control regarding Syntaxin 1A genotypes and different alleles. Syntaxin 1A genotypes have no impact on clinical characteristics of the disease, disability, or cognition. These negative findings open the floor for the study of other MS related genes in Egypt.","PeriodicalId":74995,"journal":{"name":"The Egyptian journal of neurology, psychiatry and neurosurgery","volume":"32 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Egyptian journal of neurology, psychiatry and neurosurgery","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/s41983-024-00811-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

Abstract

Syntaxin 1A is a member of a membrane-integrated nervous system-specific protein superfamily involved in the neuromediator release from synaptic vesicles and one of the proteins included in axonal integrity. Studies that discussed the role of Syntaxin 1A in multiple sclerosis are few and limited. Gene studying sometimes shows unexpected results in different populations. The aim of this work was to investigate Syntaxin 1A genetic polymorphism (rs1569061) in a sample of Egyptian patients with MS and the relation between Syntaxin 1A gene polymorphism and disease course and disability. A case–control study included 150 subjects; 75 Egyptian MS patients of different clinical courses and 75 age and sex matched healthy controls. Patients were subjected to clinical evaluation, assessment of disability, and cognition. Both patient and control groups were subjected to Syntaxin 1A genotyping. There was no significant difference between different genotypes distribution for Syntaxin 1A (rs 1569061) between MS patients and controls. No significant difference was found between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding EDSS or results of BICAMS). There was no statistically significant difference between syntaxin genotypes among cases of MS regarding demographic or clinical characteristics of the disease. Here we show no statistically significant difference between MS patients and control regarding Syntaxin 1A genotypes and different alleles. Syntaxin 1A genotypes have no impact on clinical characteristics of the disease, disability, or cognition. These negative findings open the floor for the study of other MS related genes in Egypt.
多发性硬化症中的 Syntaxin 1A 基因多态性:一项病例对照研究
合成轴突蛋白 1A 是膜整合神经系统特异性蛋白超家族的成员,参与突触小泡中神经介质的释放,也是轴突完整性蛋白之一。讨论 Syntaxin 1A 在多发性硬化症中的作用的研究很少,也很有限。基因研究有时会在不同人群中显示出意想不到的结果。本研究旨在调查埃及多发性硬化症患者样本中 Syntaxin 1A 基因多态性(rs1569061)以及 Syntaxin 1A 基因多态性与病程和残疾之间的关系。病例对照研究包括 150 名受试者:75 名不同临床病程的埃及多发性硬化症患者和 75 名年龄和性别匹配的健康对照者。患者接受了临床评估、残疾评估和认知评估。患者组和对照组均进行了 Syntaxin 1A 基因分型。多发性硬化症患者和对照组的 Syntaxin 1A(rs 1569061)基因型分布无明显差异。就 EDSS 或 BICAMS 的结果而言,多发性硬化症病例中 Syntaxin 1A (rs 1569061) 的基因型和等位基因分布无明显差异。)在人口统计学或疾病临床特征方面,多发性硬化症病例的合成酶基因型之间没有统计学意义上的差异。在此,我们显示多发性硬化症患者和对照组在合成轴突蛋白 1A 基因型和不同等位基因方面没有统计学意义上的差异。Syntaxin 1A 基因型对疾病的临床特征、残疾或认知能力没有影响。这些负面研究结果为研究埃及其他多发性硬化症相关基因提供了可能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
1.90
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信