探索阿尔茨海默病和多发性硬化症的共同基因特征:一项生物信息学分析研究。

IF 2.1 4区 医学 Q3 CLINICAL NEUROLOGY European Neurology Pub Date : 2023-01-01 Epub Date: 2023-10-17 DOI:10.1159/000533397
Dasen Yuan, Bihui Huang, Meifeng Gu, Bang-E Qin, Zhihui Su, Kai Dai, Fu-Hua Peng, Ying Jiang
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引用次数: 0

摘要

背景:许多临床研究报道了阿尔茨海默病(AD)和多发性硬化症(MS)的共存,但AD和MS之间的共同分子特征仍然难以捉摸。我们研究的目的是通过生物信息学分析来探索AD和MS之间的遗传联系,为这两种疾病的共同特征和可能的发病机制提供新的见解。方法:从基因表达综合数据库(GEO)获得的数据集中确定AD和MS之间的常见差异表达基因(DEGs)。此外,还进行了功能和途径富集分析、PPI网络构建和枢纽基因鉴定。hub基因的表达水平在另外两个外部AD和MS数据集中得到了验证。转录因子(TF)-基因相互作用和基因miRNA相互作用在NetworkAnalyst中进行。最后,应用受试者操作特征(ROC)曲线分析来评估hub基因的预测价值。结果:在AD和MS之间共鉴定出75个常见的DEG。功能和通路富集分析分别强调了胞吐和突触囊泡周期的重要性。6个重要的枢纽基因,包括CCL2、CD44、GFAP、NEFM、STXBP1和TCEAL6,被鉴定并验证为AD和MS共享的共同枢纽基因。FOXC1和hsa-mir-16-5p分别是调节枢纽基因中最常见的TF和miRNA。在ROC曲线分析中,所有枢纽基因在帮助区分患者和对照组方面表现出良好的效率。结论:我们的研究首次确定了AD和MS之间的共同遗传特征,为研究AD和MS的共同机制铺平了道路。
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Exploring Shared Genetic Signatures of Alzheimer's Disease and Multiple Sclerosis: A Bioinformatic Analysis Study.

Introduction: Many clinical studies reported the coexistence of Alzheimer's disease (AD) and multiple sclerosis (MS), but the common molecular signature between AD and MS remains elusive. The purpose of our study was to explore the genetic linkage between AD and MS through bioinformatic analysis, providing new insights into the shared signatures and possible pathogenesis of two diseases.

Methods: The common differentially expressed genes (DEGs) were determined between AD and MS from datasets obtained from Gene Expression Omnibus (GEO) database. Further, functional and pathway enrichment analysis, protein-protein interaction network construction, and identification of hub genes were carried out. The expression level of hub genes was validated in two other external AD and MS datasets. Transcription factor (TF)-gene interactions and gene-miRNA interactions were performed in NetworkAnalyst. Finally, receiver operating characteristic (ROC) curve analysis was applied to evaluate the predictive value of hub genes.

Results: A total of 75 common DEGs were identified between AD and MS. Functional and pathway enrichment analysis emphasized the importance of exocytosis and synaptic vesicle cycle, respectively. Six significant hub genes, including CCL2, CD44, GFAP, NEFM, STXBP1, and TCEAL6, were identified and verified as common hub genes shared by AD and MS. FOXC1 and hsa-mir-16-5p are the most common TF and miRNA in regulating hub genes, respectively. In the ROC curve analysis, all hub genes showed good efficiency in helping distinguish patients from controls.

Conclusion: Our study first identified a common genetic signature between AD and MS, paving the road for investigating shared mechanism of AD and MS.

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来源期刊
European Neurology
European Neurology 医学-临床神经学
CiteScore
4.40
自引率
4.20%
发文量
51
审稿时长
4-8 weeks
期刊介绍: ''European Neurology'' publishes original papers, reviews and letters to the editor. Papers presented in this journal cover clinical aspects of diseases of the nervous system and muscles, as well as their neuropathological, biochemical, and electrophysiological basis. New diagnostic probes, pharmacological and surgical treatments are evaluated from clinical evidence and basic investigative studies. The journal also features original works and reviews on the history of neurology.
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