Genetic Profiles Related to Pathogenesis in Sporadic Intracranial Aneurysm Patients

Cheng, Quan; Li, Zhenyan; Wang, Ruizhe; Zhang, Hongfu; Cao, Hui; Chen, Fenghua; Li, Huangbao; Xia, Zhiwei; Feng, Shi Ting; Zhang, Hao; Rui, Yuhua; Fan, Fan

doi:10.1016/j.wneu.2019.06.110

Cited by 11 publications

(3 citation statements)

References 34 publications

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“…The roles of MMP-9 and C3AR1 in the pathogenesis of epilepsy have been reported previously, but the mechanisms of the genes associated with SAH-induced epilepsy had not been studied ( 19 , 20 ). The MMP9 gene exerts profound effects on epilepsy by regulating immune cell infiltration and inflammation ( 21 ).…”

Section: Discussionmentioning

confidence: 98%

Identification of hub genes significantly linked to subarachnoid hemorrhage and epilepsy via bioinformatics analysis

Gao

Li²,

Li³

et al. 2023

Front. Neurol.

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BackgroundAlthough epilepsy has been linked to subarachnoid hemorrhage (SAH), the underlying mechanism has not been fully elucidated. This study aimed to further explore the potential mechanisms in epilepsy and SAH through genes.MethodsGene expression profiles for subarachnoid hemorrhage (GSE36791) and epilepsy (GSE143272) were downloaded from the Gene Expression Omnibus (GEO) database. Differential expression analysis was performed to identify the common differentially expressed genes (DEGs) to epilepsy and SAH, which were further analyzed by functional enrichment analysis. Single-sample gene set enrichment analysis (ssGSEA) and weighted correlation network analysis (WGCNA) were used to identify common module genes related to the infiltration of immune cells in epilepsy and SAH. Hub module genes were identified using a protein–protein interaction (PPI) network. Finally, the most relevant genes were obtained by taking the intersection points between the DEGs and hub module genes. We performed validation by retrospectively analyzing the RT-PCR levels of the most relevant genes in patients with pure SAH and patients with SAH complicated with epilepsy. Our experiments verified that the SAH and SAH+epilepsy groups were significantly different from the normal control group. In addition, significant differences were observed between the SAH and SAH+epilepsy groups.ResultsIn total, 159 common DEGs–85 downregulated genes and 74 upregulated genes—were identified. Functional analysis emphasized that the immune response was a common feature to epilepsy and SAH. The results of ssGSEA and WGCNA revealed changes in immunocyte recruitment and the related module genes. Finally, MMP9 and C3aR1 were identified as hub genes, and RT-PCR confirmed that the expression levels of the hub genes were higher in epilepsy and SAH samples than in normal samples.ConclusionsOur study revealed the pathogenesis of SAH complicated with epilepsy and identified hub genes that might provide new ideas for further mechanistic studies.

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Section: Discussionmentioning

confidence: 98%

Identification of hub genes significantly linked to subarachnoid hemorrhage and epilepsy via bioinformatics analysis

Gao

Li²,

Li³

et al. 2023

Front. Neurol.

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“…Along with the development of bioinformatic tools appeared a new type of study presenting re-analyzed data from available datasets, including expression data from the Gene Expression Omnibus (GEO). Approximately one third of these published secondary analyses utilized a single dataset [ 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 ] and two thirds leveraged data from two to eight datasets [ 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 ]. These studies did not provide any new additional clinical data but rather aimed to deepen the insight into molecular mechanisms of the IA pathophysiology by revealing key regulatory networks and interactions between investigated molecules.…”

Section: Studies Based On Existing Datasetsmentioning

confidence: 99%

Transcriptomic Studies on Intracranial Aneurysms

Morga¹,

Pera

2023

Genes

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Intracranial aneurysm (IA) is a relatively common vascular malformation of an intracranial artery. In most cases, its presence is asymptomatic, but IA rupture causing subarachnoid hemorrhage is a life-threating condition with very high mortality and disability rates. Despite intensive studies, molecular mechanisms underlying the pathophysiology of IA formation, growth, and rupture remain poorly understood. There are no specific biomarkers of IA presence or rupture. Analysis of expression of mRNA and other RNA types offers a deeper insight into IA pathobiology. Here, we present results of published human studies on IA-focused transcriptomics.

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“…4A, suggesting that their biological function is particularly important. They are all associated with SMC contraction, but only MYH11 and MYLK have been validated to be predisposing genes of aneurysmal diseases and AD further 5,24 .…”

Section: Smcs Contractile Dysfuction (Dedifferentiation) Refers To the Degeneration From An Initial Contractilementioning

confidence: 99%

Bioinformatics analysis of potential common molecular pathogenesis assumed by intracranial aneurysm, aortic aneurysm and aortic dissection

Zhao

Cui

Liu

et al. 2021

Preprint

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This study is intended to find possible pathogenesis-related genetic overlap and common molecular mechanisms of intracranial aneurysm, abdominal aortic aneurysm and aortic dissection. Three mRNA microarray datasets,GSE75436 of intracranial aneurysms, GSE7084 of abdominal aortic aneurysm and GSE52093 of aortic dissection were downloaded from Gene Expression Omnibus and detected in silico . DEGs of these three datasets screened through GEO2R, respectively . The overlapping genes were found by Venny mapping. Subsequently, Gene Ontology, Kyoto Encyclopedia of Genes and Genomespathway enrichment analysiswere performed using the DAVID database and protein-protein interaction network analyses were conducted by STRING and Cytoscape webpage tool to illustrate the molecular mechanisms in their pathogenesis and progression.This study identified 178 DEGs, including SMTN, MYH11, TAGLN, ACTG2, CNN1, MYLK, LMOD1, MYL9,VCL and ACTC1 in the the most significant module. Except for those confirmed biological processes, mesenchyme migration and platelet aggregation are common biological processes shared by genes in the most significant module and the hub genes. Focal adhesionssignaling pathway is highlighted in this analysis. The present study identified possible pathogenesis-related genetic overlap and common molecular mechanisms of intracranial aneurysm, abdominal aortic aneurysm and aortic dissection, which may contribute to their diagnosis, treatment and prognostic prediction with a systematic view.

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Genetic Profiles Related to Pathogenesis in Sporadic Intracranial Aneurysm Patients

Cited by 11 publications

References 34 publications

Identification of hub genes significantly linked to subarachnoid hemorrhage and epilepsy via bioinformatics analysis

Identification of hub genes significantly linked to subarachnoid hemorrhage and epilepsy via bioinformatics analysis

Transcriptomic Studies on Intracranial Aneurysms

Bioinformatics analysis of potential common molecular pathogenesis assumed by intracranial aneurysm, aortic aneurysm and aortic dissection

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