Lack of Association Between CAT rs1001179 and SOD2 rs4880 Variants and Risk for Multiple Sclerosis.

IF 5.6 2区 生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY
Biomolecules Pub Date : 2026-10-04 DOI:10.3390/biom16101449
Elena García-Martín, Javier Gómez-Tabales, José A G Agúndez, Julián Benito-León, Jorge Millán-Pascual, María Díaz-Sánchez, Patricia Calleja, Laura Turpín-Fenoll, Hortensia Alonso-Navarro, Esteban García-Albea, Félix Javier Jiménez-Jiménez
{"title":"Lack of Association Between <i>CAT</i> rs1001179 and <i>SOD2</i> rs4880 Variants and Risk for Multiple Sclerosis.","authors":"Elena García-Martín, Javier Gómez-Tabales, José A G Agúndez, Julián Benito-León, Jorge Millán-Pascual, María Díaz-Sánchez, Patricia Calleja, Laura Turpín-Fenoll, Hortensia Alonso-Navarro, Esteban García-Albea, Félix Javier Jiménez-Jiménez","doi":"10.3390/biom16101449","DOIUrl":null,"url":null,"abstract":"<p><p><b>Objectives:</b> Several lines of evidence point to a potential involvement of oxidative stress in the pathophysiology of multiple sclerosis (MS). Superoxide dismutase isoenzymes 1 and 2 (SOD1 and SOD2) and catalase (CAT) are key components of the enzymatic antioxidant defense system. Consequently, genetic variation in the genes encoding these enzymes may influence susceptibility to MS. However, previous studies examining the relationship between <i>SOD1</i>, <i>SOD2</i>, and <i>CAT</i> variants and MS susceptibility have yielded inconsistent findings. The present study aimed to investigate whether two common single-nucleotide variants (SNVs) in <i>CAT</i> and <i>SOD2</i> are associated with MS risk in a Caucasian Spanish population. <b>Methods:</b> We investigated the <i>CAT</i> rs1001179 and <i>SOD2</i> rs4880 variants in 300 patients with MS and 400 healthy controls using allele-specific TaqMan quantitative PCR assays. We further examined whether these variants were related to relevant clinical characteristics, including age at disease onset, disease severity, and clinical course/subtype. <b>Results:</b> Neither the genotype nor allele distributions of <i>CAT</i> rs1001179 and <i>SOD2</i> rs4880 differed significantly between patients with MS and healthy controls. Furthermore, no significant relationships were observed between either variant and sex, age at disease onset, disease severity, or clinical MS subtype. <b>Conclusions:</b> The present study did not detect significant associations between the <i>CAT</i> rs1001179 or <i>SOD2</i> rs4880 variants and MS susceptibility in the Caucasian Spanish population. Similarly, no significant associations were detected between these variants and the clinical characteristics evaluated. However, smaller genetic effects cannot be excluded.</p>","PeriodicalId":8943,"journal":{"name":"Biomolecules","volume":"16 10","pages":""},"PeriodicalIF":5.6000,"publicationDate":"2026-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biomolecules","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3390/biom16101449","RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Objectives: Several lines of evidence point to a potential involvement of oxidative stress in the pathophysiology of multiple sclerosis (MS). Superoxide dismutase isoenzymes 1 and 2 (SOD1 and SOD2) and catalase (CAT) are key components of the enzymatic antioxidant defense system. Consequently, genetic variation in the genes encoding these enzymes may influence susceptibility to MS. However, previous studies examining the relationship between SOD1, SOD2, and CAT variants and MS susceptibility have yielded inconsistent findings. The present study aimed to investigate whether two common single-nucleotide variants (SNVs) in CAT and SOD2 are associated with MS risk in a Caucasian Spanish population. Methods: We investigated the CAT rs1001179 and SOD2 rs4880 variants in 300 patients with MS and 400 healthy controls using allele-specific TaqMan quantitative PCR assays. We further examined whether these variants were related to relevant clinical characteristics, including age at disease onset, disease severity, and clinical course/subtype. Results: Neither the genotype nor allele distributions of CAT rs1001179 and SOD2 rs4880 differed significantly between patients with MS and healthy controls. Furthermore, no significant relationships were observed between either variant and sex, age at disease onset, disease severity, or clinical MS subtype. Conclusions: The present study did not detect significant associations between the CAT rs1001179 or SOD2 rs4880 variants and MS susceptibility in the Caucasian Spanish population. Similarly, no significant associations were detected between these variants and the clinical characteristics evaluated. However, smaller genetic effects cannot be excluded.

CAT rs1001179和SOD2 rs4880变异与多发性硬化症风险之间缺乏相关性
目的:一些证据表明氧化应激在多发性硬化症(MS)的病理生理中有潜在的参与。超氧化物歧化酶同工酶1和2 (SOD1和SOD2)和过氧化氢酶(CAT)是酶促抗氧化防御系统的关键组成部分。因此,编码这些酶的基因的遗传变异可能会影响MS的易感性。然而,先前关于SOD1、SOD2和CAT变异与MS易感性之间关系的研究得出了不一致的结果。本研究旨在调查CAT和SOD2中两种常见的单核苷酸变异(snv)是否与西班牙高加索人群的MS风险相关。方法:采用等位基因特异性TaqMan定量PCR检测300例MS患者和400例健康对照的CAT rs1001179和SOD2 rs4880变异。我们进一步研究了这些变异是否与相关临床特征相关,包括发病年龄、疾病严重程度和临床病程/亚型。结果:MS患者的CAT rs1001179和SOD2 rs4880基因型及等位基因分布均与健康对照无显著差异。此外,没有观察到任何一种变异与性别、发病年龄、疾病严重程度或临床MS亚型之间的显著关系。结论:本研究未发现西班牙高加索人群中CAT rs1001179或SOD2 rs4880变异与MS易感性之间存在显著关联。同样,这些变异与评估的临床特征之间也没有发现显著的关联。然而,不能排除较小的遗传影响。
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
Biomolecules
Biomolecules Biochemistry, Genetics and Molecular Biology-Molecular Biology
CiteScore
9.40
自引率
3.60%
发文量
1640
审稿时长
18.28 days
期刊介绍: Biomolecules (ISSN 2218-273X) is an international, peer-reviewed open access journal focusing on biogenic substances and their biological functions, structures, interactions with other molecules, and their microenvironment as well as biological systems. Biomolecules publishes reviews, regular research papers and short communications.  Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced.
×
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:604180095
Book学术官方微信
小红书