ArticleOrphanet journal of rare diseases2022
Identification of immune-infiltrated hub genes as potential biomarkers of Moyamoya disease by bioinformatics analysis.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Molecular and multimodal biomarkers in Moyamoya disease: from pathogenic mechanisms to clinical translation.European journal of medical research · 2026Review
- The role of systemic inflammation in the formation and rupture of intracranial aneurysms in moyamoya disease: a retrospective cohort study.Annals of medicine · 2025Article
- Innate Immune Cell Profiling in Peripheral Blood Mononuclear Cells of Patients with Moyamoya Disease.Inflammation · 2025Article
- Angiogenesis-related genes and immune microenvironment in moyamoya disease: a transcriptomic and functional analysis.Orphanet journal of rare diseases · 2025Article
- Recent Advances in Genetics of Moyamoya Disease: Insights into the Different Pathogenic Pathways.International journal of molecular sciences · 2025Review
- Unraveling the Dyslipidemic Landscape in Moyamoya Disease: OxLDL as a Key Biomarker.CNS neuroscience & therapeutics · 2025Article
- Integrated bulk RNA sequencing and mass cytometry analysis reveal the circulating immune landscape in ischemic and hemorrhagic Moyamoya disease.BMC immunology · 2025Article
- Article
- Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4.Scientific reports · 2025Article
- The Role of Immune Cells in Moyamoya Disease.Brain sciences · 2025Review
- Downregulation of IL-20RA in Cerebrospinal Fluid Associated with the Risk of Moyamoya Disease: A Molecular Signatures Analysis with an Inflammation Proteomics Landscape.Journal of inflammation research · 2025Article
- Mass cytometry revealed the circulating immune cell landscape across different Suzuki stages of Moyamoya disease.Immunologic research · 2024Article
- Novel analysis of functional relationship linking moyamoya disease to moyamoya syndrome.Heliyon · 2024Article
- Characterization of PANoptosis-related genes and the immune landscape in moyamoya disease.Scientific reports · 2024Article
- Small-molecule α-lipoic acid targets ELK1 to balance human neutrophil and erythrocyte differentiation.Stem cell research & therapy · 2024Article
- Circulating immune cell landscape and T-cell abnormalities in patients with moyamoya disease.Clinical and translational medicine · 2024Article
- GM-CSF Promotes the Development of Dysfunctional Vascular Networks in Moyamoya Disease.Neuroscience bulletin · 2024Article
- Identification of diagnostic markers for moyamoya disease by combining bulk RNA-sequencing analysis and machine learning.Scientific reports · 2024Article
- Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases.Frontiers in neurology · 2023Review
- Bioinformatics analysis reveals the landscape of immune cell infiltration and novel immune-related biomarkers in moyamoya disease.Frontiers in genetics · 2023Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMoyamoya disease (MMD) is a rare chronic progressive cerebrovascular disease. Recent studies have shown that autoimmune inflammation may also be an important pathology in MMD but the molecular mechanisms of inflammation in this disease are still large unknown. This study was designed to identify key biomarkers and the immune infiltration in vessel tissue of MMD using bioinformatics analysis.
methodsRaw gene expression profiles (GSE157628, GSE141024) were downloaded from the Gene Expression Omnibus (GEO) database, identified differentially expressed genes (DEGs) and performed functional enrichment analysis. The CIBERSORT deconvolution algorithm was used to analyze the proportion of immune cells between MMD and an MMD-negative control group. We screened for neutrophil-associated DEGs, constructed a protein-protein interaction network (PPI) using STRING, and clarified the gene cluster using the Cytoscape plugin MCODE analysis. The receiver operating characteristic (ROC) curve was applied to test and filter the best gene signature.
resultsA total of 570 DEGs were detected, including 212 downregulated and 358 up-regulated genes. Reactome and KEGG enrichment revealed that DEGs were involved in the cell cycle, molecular transport, and metabolic pathways. The immune infiltration profile demonstrated that MMD cerebrovascular tissues contained a higher proportion of neutrophils, monocytes, and natural killer cells in MMD than in controls. The PPI network and MCODE cluster identified nine DEGs (UNC13D, AZU1, PYCARD, ELANE, SDCBP, CCL11, CCL15, CCL20, and CXCL5) associated with neutrophil infiltration. ROC results showed that UNC13D has good specificity and sensitivity (AUC = 0.7846).
conclusionsThe characteristics of immune infiltration in the cerebrovascular tissues of MMD patients and abnormal expression of hub genes provide new insights for understanding MMD progression. UNC13D is shows promise as a candidate molecule to determine neutrophil infiltration characteristics in MMD.
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