Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis.

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-09-01 Epub Date: 2024-07-18 DOI:10.1089/gtmb.2024.0082
Tarnjeet Kaur, Shreya Singh Kashyap, Sumeet Arora, Jatinder Singh, Manpreet Kaur
{"title":"Mannose-Binding Lectin Gene Variants as Disease Susceptibility Biomarkers in Rheumatoid Arthritis.","authors":"Tarnjeet Kaur, Shreya Singh Kashyap, Sumeet Arora, Jatinder Singh, Manpreet Kaur","doi":"10.1089/gtmb.2024.0082","DOIUrl":null,"url":null,"abstract":"<p><p><b><i>Background</i>:</b> Rheumatoid arthritis (RA) is a chronic, inflammatory autoimmune disease characterized by progressive destruction of peripheral joints. About 1% of the human population worldwide is suffering from this disease. The pathophysiology of RA is largely being influenced by immune dysregulation. Mannose-binding lectin (MBL), an acute-phase protein, has been reported to play an important role in pathogenesis of RA by the activation of complement pathway. Various studies documented the established the role of MBL in pathogenesis of various autoimmune diseases, including RA. MBL protein is encoded by gene <i>MBL2</i>, mapped on chromosome 10q11.2-q21. <b><i>Objective:</i></b> Both MBL serum levels and activity are mainly determined genetically by its variants. So considering the putative clinical role of <i>MBL2</i>, this case-control association study was designed to assess its six functional variants in a northwestern Indian cohort. <b><i>Methods:</i></b> Genetic typing of six <i>MBL2</i> variants was done by amplification refractory mutation system-polymerase chain reaction. Data were analyzed using suitable statistical tools. <b><i>Results:</i></b> Significant difference has been observed in genotypic and allelic distribution between cases and controls for rs11003125. Comparison of allelic distribution for rs1800450 showed significantly high prevalence of A allele in cases than controls. <b><i>Conclusion:</i></b> These results indicate that <i>MBL2</i> variants may act as plausible marker for susceptibility toward RA. Keeping this in view, it is pertinent to screen these variants in other population groups of India.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetic testing and molecular biomarkers","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1089/gtmb.2024.0082","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/18 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Background: Rheumatoid arthritis (RA) is a chronic, inflammatory autoimmune disease characterized by progressive destruction of peripheral joints. About 1% of the human population worldwide is suffering from this disease. The pathophysiology of RA is largely being influenced by immune dysregulation. Mannose-binding lectin (MBL), an acute-phase protein, has been reported to play an important role in pathogenesis of RA by the activation of complement pathway. Various studies documented the established the role of MBL in pathogenesis of various autoimmune diseases, including RA. MBL protein is encoded by gene MBL2, mapped on chromosome 10q11.2-q21. Objective: Both MBL serum levels and activity are mainly determined genetically by its variants. So considering the putative clinical role of MBL2, this case-control association study was designed to assess its six functional variants in a northwestern Indian cohort. Methods: Genetic typing of six MBL2 variants was done by amplification refractory mutation system-polymerase chain reaction. Data were analyzed using suitable statistical tools. Results: Significant difference has been observed in genotypic and allelic distribution between cases and controls for rs11003125. Comparison of allelic distribution for rs1800450 showed significantly high prevalence of A allele in cases than controls. Conclusion: These results indicate that MBL2 variants may act as plausible marker for susceptibility toward RA. Keeping this in view, it is pertinent to screen these variants in other population groups of India.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
作为类风湿性关节炎疾病易感性生物标志物的甘露糖结合凝集素基因变异。
背景:类风湿性关节炎(RA)是一种慢性炎症性自身免疫疾病,其特征是外周关节的进行性破坏。全世界约有 1% 的人患有这种疾病。RA 的病理生理学在很大程度上受到免疫失调的影响。据报道,甘露糖结合凝集素(MBL)是一种急性期蛋白,可通过激活补体通路在风湿性关节炎的发病机制中发挥重要作用。多项研究证实,MBL 在包括 RA 在内的多种自身免疫性疾病的发病机制中发挥作用。MBL 蛋白由 MBL2 基因编码,该基因位于染色体 10q11.2-q21 上。目的:MBL 血清水平和活性主要由其变异基因决定。因此,考虑到 MBL2 的潜在临床作用,本病例对照关联研究旨在评估印度西北部队列中的六个功能变异体。研究方法通过扩增难治性突变系统聚合酶链反应对六种 MBL2 变体进行基因分型。使用合适的统计工具对数据进行分析。结果观察到 rs11003125 的基因型和等位基因分布在病例和对照组之间存在显著差异。比较 rs1800450 的等位基因分布发现,病例中 A 等位基因的患病率明显高于对照组。结论这些结果表明,MBL2 变异可作为 RA 易感性的合理标记。有鉴于此,在印度其他人群中筛查这些变异是有意义的。
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 去求助
来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
期刊最新文献
Immune Regulatory Circular RNAs, circRasGEF1B and circHIPK3, Are Upregulated in Peripheral Blood Mononuclear Cells of COVID-19 Patients. Association of ANRIL Gene Polymorphisms with Gastric Cancer Risk: A Case-Control Study. Evaluation of Multigene Methylation for Blood-Based Detection of Colorectal Cancer. Human Leukocyte Antigen-G Gene Polymorphism in Peninsular Malaysia: A Preliminary Report. Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
×
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
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 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 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1