Xiao Liu, Zhenjun Li, Hongzhen Xu, Wangqing He, Lei Wu, Bin Ji, Nuerzhati Nuermaimaiti, Guangnan Ao, Yuhang Feng, Xuying He
{"title":"Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis.","authors":"Xiao Liu, Zhenjun Li, Hongzhen Xu, Wangqing He, Lei Wu, Bin Ji, Nuerzhati Nuermaimaiti, Guangnan Ao, Yuhang Feng, Xuying He","doi":"10.1186/s13023-025-03689-1","DOIUrl":null,"url":null,"abstract":"<p><p>Intracranial aneurysms (IAs) and abdominal aortic aneurysms (AAAs) are both vascular diseases that are closely linked. However, the pathogenesis underlying the co-occurrence of IAs and AAAs remains poorly understood. This study aims to identify key biomarkers that shed light on the molecular mechanisms connecting these two diseases using bioinformatics analysis. Gene expression profiles (GSE122897, GSE237229) were obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) common to both IAs and AAAs were identified and subjected to functional enrichment analysis. The Cytoscape cytoHubba plugin was used to identify hub genes, and their predictive ability was evaluated using the receiver operating characteristic (ROC) curve. Additionally, immune infiltration analyses and single-gene gene set enrichment analysis (GSEA) were conducted for the hub genes. A total of 46 DEGs were identified, including 40 upregulated genes and 6 downregulated genes. The common DEGs were found to be involved in extracellular matrix structural constituents, collagen fibril organization, and regulation of basic cellular processes. ITGA11 was identified as a key gene implicated in the comorbidity of IAs and AAAs, with its upregulation strongly associated with plasma cells. Furthermore, in both IAs and AAAs, glycosaminoglycan biosynthesis of extracellular matrix components and immune-related diseases were significantly linked to the high expression of ITGA11. Our findings suggest that the comorbidity of IAs and AAAs may be driven by shared inflammatory and immune response mechanisms, with ITGA11 emerging as a potential biomarker for this co-occurrence.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"20 1","pages":"196"},"PeriodicalIF":3.4000,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020248/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Orphanet Journal of Rare Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13023-025-03689-1","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Intracranial aneurysms (IAs) and abdominal aortic aneurysms (AAAs) are both vascular diseases that are closely linked. However, the pathogenesis underlying the co-occurrence of IAs and AAAs remains poorly understood. This study aims to identify key biomarkers that shed light on the molecular mechanisms connecting these two diseases using bioinformatics analysis. Gene expression profiles (GSE122897, GSE237229) were obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) common to both IAs and AAAs were identified and subjected to functional enrichment analysis. The Cytoscape cytoHubba plugin was used to identify hub genes, and their predictive ability was evaluated using the receiver operating characteristic (ROC) curve. Additionally, immune infiltration analyses and single-gene gene set enrichment analysis (GSEA) were conducted for the hub genes. A total of 46 DEGs were identified, including 40 upregulated genes and 6 downregulated genes. The common DEGs were found to be involved in extracellular matrix structural constituents, collagen fibril organization, and regulation of basic cellular processes. ITGA11 was identified as a key gene implicated in the comorbidity of IAs and AAAs, with its upregulation strongly associated with plasma cells. Furthermore, in both IAs and AAAs, glycosaminoglycan biosynthesis of extracellular matrix components and immune-related diseases were significantly linked to the high expression of ITGA11. Our findings suggest that the comorbidity of IAs and AAAs may be driven by shared inflammatory and immune response mechanisms, with ITGA11 emerging as a potential biomarker for this co-occurrence.
期刊介绍:
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.