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pmid:40275351

Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis.

Xiao Liu · Zhenjun Li · Hongzhen Xu · Wangqing He · Lei Wu · Bin Ji · Nuerzhati Nuermaimaiti · Guangnan Ao · Yuhang Feng · Xuying He

Orphanet journal of rare diseases · 2025 doi:10.1186/s13023-025-03689-1

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complete

Experiment

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Record details sci_version · id · kind · revision · content_hash · schema · created_at · updated_at · generator
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pmid:40275351
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title
Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis.
doi
10.1186/s13023-025-03689-1
pmid
40275351
authors array · 10 items
[0]
Xiao Liu
[1]
Zhenjun Li
[2]
Hongzhen Xu
[3]
Wangqing He
[4]
Lei Wu
[5]
Bin Ji
[6]
Nuerzhati Nuermaimaiti
[7]
Guangnan Ao
[8]
Yuhang Feng
[9]
Xuying He
journal
Orphanet journal of rare diseases
year
2025
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.
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To further evaluate the hub crosstalk gene as a common potential indicator for IAs and AAAs, receiver operating characteristic (ROC) analyses were performed using the datasets GSE122897 and GSE237229, with GSE75436 and GSE57691 serving as validation datasets.
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To further evaluate the hub crosstalk gene as a common potential indicator for IAs and AAAs, receiver operating characteristic (ROC) analyses were performed using the datasets GSE122897 and GSE237229, with GSE75436 and GSE57691 serving as validation datasets.
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sections[24] "notes" paragraph 1
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The GEO dataset used in this study is publicly available at (https://www.ncbi.nlm.nih.gov/geo/).
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Receiver operating characteristic analysis identified ITGA11 as the strongest diagnostic marker for both intracranial aneurysms and abdominal aortic aneurysms, with AUC values of 0.872 and 0.948, respectively.
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sections[14] "Diagnostic effect evaluation" paragraph 2
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The results of the ROC curve analysis revealed that ITGA11 had the highest predictive power for both diseases, with AUC values of 0.872 and 0.948.
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Receiver operating characteristic analysis identified ITGA11 as the strongest diagnostic marker for both intracranial aneurysms and abdominal aortic aneurysms, with AUC values of 0.872 and 0.948, respectively.
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RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture
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Transcriptional profiling of primary human aortic smooth muscle cells (hAoSMC) isolated from non-anerysmal vs. hAoSMCs isolated from anerysmal abdominal aorta (differential expression analysis) [bulk RNA-seq]
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agent:corpus-assay-engine
type
software
label
Corpus assay engine
[1] object · 3 fields
id
agent:minimax-reader
type
software
label
MiniMax literature reader
source_run_id
reading-sci-2026-11-01
dsl_catalogue_fingerprint
343fb30756ba6ec3
capability_table_fingerprint
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ba34b49490d9bfaf
lineage object · 4 fields
parent_id
pmid:40275351
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sha256:4ecdf43b9c33eb306e60134f9d4b6ebae4f2e65c9c1a8cea8ad7748116d3b945
fork_of
null
gaps array · 12 items
[0]
asset:data:geo:GSE122897 licence not read
[1]
asset:data:geo:GSE122897 not downloaded
[2]
asset:data:geo:GSE237229 licence not read
[3]
asset:data:geo:GSE237229 not downloaded
[4]
asset:data:geo:GSE57691 licence not read
[5]
asset:data:geo:GSE57691 not downloaded
[6]
asset:data:geo:GSE75436 licence not read
[7]
asset:data:geo:GSE75436 not downloaded
[8]
execution.not_run
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review.human_critique
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review.independent_reader
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review.machine_critique
assays array · 2 items
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data_generation
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apoptosis_assay
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99e1195c7d6f
required_operations array · 0 items
support_state
partial
source_hashes object · 1 field
assay_lexicon
99e1195c7d6f
confidence
0.69
evidence array · 1 item
[0]
evealed the following pathways: multispecies apoptosis, biosynthesis of nucleotide sugars, glycosam
order_basis
paper_text_order:1944
id
assay:1
[1] object · 11 fields
role
analysis
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diagnostic_evaluation
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f2132e96ae6c7a4e
required_operations array · 6 items
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confusion_counts
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roc_curve
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sensitivity_specificity
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solve_confusion_matrix
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classification_metrics
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published_precision_envelope
support_state
supported
source_hashes object · 1 field
dsl_catalogue
f2132e96ae6c7a4e
evidence array · 1 item
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To further evaluate the hub crosstalk gene as a common potential indicator for IAs and AAAs, receiver operating characteristic (ROC) analyses were performed using the datasets GSE122897 and GSE237229, with GSE75436 and GSE57691 serving as validation datasets.
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assay:2
Complete file
{"sci_version": "1.2", "schema": "https://corpus.bntrg.co.uk/sci/1.0/sci.schema.json", "id": "pmid:40275351", "kind": "science-record", "revision": 4, "content_hash": "sha256:d625c6f753b2d50be9f86cb71162997a9d4e880db47449705f38d37578d23d4c", "created_at": "2026-11-01T20:30:25Z", "updated_at": "2026-11-01T22:56:24Z", "generator": {"name": "corpus-assay-engine", "run_id": "reading-sci-2026-11-01"}, "paper": {"state": "complete", "title": "Revealing shared molecular and mechanistic signatures between intracranial aneurysms and abdominal aortic aneurysms: a comprehensive genomic analysis.", "doi": "10.1186/s13023-025-03689-1", "pmid": "40275351", "authors": ["Xiao Liu", "Zhenjun Li", "Hongzhen Xu", "Wangqing He", "Lei Wu", "Bin Ji", "Nuerzhati Nuermaimaiti", "Guangnan Ao", "Yuhang Feng", "Xuying He"], "journal": "Orphanet journal of rare diseases", "year": 2025, "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.", "claims": [{"id": "claim-method", "statement": "To further evaluate the hub crosstalk gene as a common potential indicator for IAs and AAAs, receiver operating characteristic (ROC) analyses were performed using the datasets GSE122897 and GSE237229, with GSE75436 and GSE57691 serving as validation datasets.", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40275351", "locator": "sections[8] \"ROC analysis\" paragraph 2", "quote": "To further evaluate the hub crosstalk gene as a common potential indicator for IAs and AAAs, receiver operating characteristic (ROC) analyses were performed using the datasets GSE122897 and GSE237229, with GSE75436 and GSE57691 serving as validation datasets."}], "state": "complete"}, {"id": "claim-data-access", "statement": "The GEO dataset used in this study is publicly available at (https://www.ncbi.nlm.nih.gov/geo/).", "kind": "methodological", "target": null, "evidence": [{"asset": "source:pmid:40275351", "locator": "sections[24] \"notes\" paragraph 1", "quote": "The GEO dataset used in this study is publicly available at (https://www.ncbi.nlm.nih.gov/geo/)."}], "state": "complete"}, {"id": "claim-target-result", "statement": "Receiver operating characteristic analysis identified ITGA11 as the strongest diagnostic marker for both intracranial aneurysms and abdominal aortic aneurysms, with AUC values of 0.872 and 0.948, respectively.", "kind": "qualitative", "target": null, "evidence": [{"asset": "source:pmid:40275351", "locator": "sections[14] \"Diagnostic effect evaluation\" paragraph 2", "quote": "The results of the ROC curve analysis revealed that ITGA11 had the highest predictive power for both diseases, with AUC values of 0.872 and 0.948."}], "state": "complete"}], "gaps": []}, "experiment": {"state": "complete", "objective": "Receiver operating characteristic analysis identified ITGA11 as the strongest diagnostic marker for both intracranial aneurysms and abdominal aortic aneurysms, with AUC values of 0.872 and 0.948, respectively.", "steps": [{"id": "read_published_estimate", "order": 1, "name": "Read the published estimate from the source", "kind": "other", "state": "complete", "blocked_on": null, "description": "The claim, method and evidence span published with the source article.", "duration_hours": null, "parameters": {}, "inputs": ["source:pmid:40275351"], "outputs": ["the published estimate and its evidence"], "instruments": [], "reagents": []}, {"id": "obtain_source_data", "order": 2, "name": "Obtain the source data from the named repository", "kind": "data-preparation", "state": "complete", "blocked_on": null, "description": "The GEO series accession resolves and its sample accessions are listed. 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