Identifying shared diagnostic genes and mechanisms in vascular dementia and Alzheimer's disease via bioinformatics and machine learning.

IF 2.8 Q2 NEUROSCIENCES
Journal of Alzheimer's disease reports Pub Date : 2024-11-24 eCollection Date: 2024-01-01 DOI:10.1177/25424823241289804
Wanning Zheng, Dongdong Lin, Shunan Shi, Jiayi Ren, Jiong Wu, Ming Wang, Shu Wan
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引用次数: 0

Abstract

Background: Alzheimer's disease (AD) and vascular dementia (VaD) share overlapping pathophysiological characteristics, yet comparative genetic studies are rare. Understanding these overlaps may aid in identifying common diagnostic markers and therapeutic targets.

Objective: This study identifies shared diagnostic genes and mechanisms linking AD and VaD.

Methods: Datasets GSE5281 and GSE122063 from the GEO database were used to identify differentially expressed genes (DEGs). Intersection DEGs were analyzed using KEGG and GO enrichment to explore signaling pathways. A PPI network was constructed, and LASSO and SVM-RFE were applied to identify core genes. CIBERSORT assessed immune cell composition and their relationship with core genes. Diagnostic efficacy was evaluated using ROC curves, nomogram, and Decision Curve Analysis (DCA). Core genes were used to identify characteristic genes in various brain regions of AD patients.

Results: The analysis identified 9021 DEGs for AD and 373 DEGs for VaD, with 74 co-expressed genes and 8 core genes. ROC curves, nomogram, and DCA indicated high diagnostic accuracy. Core gene analysis revealed differential expression of characteristic genes in various brain regions of AD patients.

Conclusions: This research identified 74 co-expressed genes and 8 pivotal diagnostic genes. These genes likely play roles in signal transduction, neuroinflammation, and autophagy in both AD and VaD. The findings offer potential targets for future research and clinical interventions. Further research should use larger, more diverse datasets and incorporate custom NGS panels to identify novel genetic variants, enhancing precise diagnostic and therapeutic strategies.

通过生物信息学和机器学习识别血管性痴呆和阿尔茨海默病的共享诊断基因和机制。
背景:阿尔茨海默病(AD)和血管性痴呆(VaD)具有重叠的病理生理特征,但比较遗传学研究很少。了解这些重叠可能有助于确定共同的诊断标记和治疗靶点。目的:研究AD和VaD的共同诊断基因和机制。方法:使用GEO数据库中的GSE5281和GSE122063数据集鉴定差异表达基因(DEGs)。使用KEGG和GO富集分析交叉deg以探索信号通路。构建PPI网络,利用LASSO和SVM-RFE对核心基因进行识别。CIBERSORT评估了免疫细胞组成及其与核心基因的关系。采用ROC曲线、nomogram和Decision Curve Analysis (DCA)评价诊断效果。利用核心基因鉴定AD患者大脑各区域的特征基因。结果:共鉴定出AD基因9021个,VaD基因373个,共表达基因74个,核心基因8个。ROC曲线、nomogram及DCA均具有较高的诊断准确率。核心基因分析揭示了AD患者不同脑区特征基因的差异表达。结论:本研究共鉴定出74个共表达基因和8个关键诊断基因。这些基因可能在AD和VaD的信号转导、神经炎症和自噬中发挥作用。这些发现为未来的研究和临床干预提供了潜在的目标。进一步的研究应该使用更大、更多样化的数据集,并纳入定制的NGS面板,以识别新的遗传变异,提高精确的诊断和治疗策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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2.80
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