Evidence map›Paper›PMID 39149038›Full record

ArticleHeliyon2024

Novel analysis of functional relationship linking moyamoya disease to moyamoya syndrome.

Lei Cao, Wenzhi Yang, Xiaozong Duan, Yipu Shao, Zhizhong Zhang, Chenchao Wang, Kaiwen Sun, Manxia Zhang, Hongwei Li, Kouji H Harada and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Heliyon, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Lei CaoDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Wenzhi YangSchool of Life Science, Zhengzhou University, Zhengzhou, 450000, China.
Xiaozong DuanDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Yipu ShaoDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Zhizhong ZhangDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Chenchao WangDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Kaiwen SunDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Manxia ZhangDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Hongwei LiDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.
Kouji H HaradaDepartment of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, 6068501, Japan.
Bo YangDepartment of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, 450000, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: The aim of this study was to elucidate the genetic pathways associated with Moyamoya disease (MMD) and Moyamoya syndrome (MMS), compare the functional activities, and validate relevant related genes in an independent dataset. Methods: We conducted a comprehensive search for genetic studies on MMD and MMS across multiple databases and identified related genes. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichments analyses were performed for these genes. Commonly shared genes were selected for further validation in the independent dataset, GSE189993. The Sangerbox platform was used to perform statistical analysis and visualize the results. Results: We included 52 MMD and 51 MMS-related publications and identified 126 and 51 relevant genes, respectively. GO analysis for MMD showed significant enrichment in cytokine activity, cell membrane receptors, enzyme binding, and immune activity. A broader range of terms was enriched for MMS. KEGG pathway analysis for MMD highlighted immune and cellular activities and pathways related to MMS prominently featured inflammation and metabolic disorders. Notably, nine overlapping genes were identified and validated. The expressions of RNF213, PTPN11, and MTHFR demonstrated significant differences in GSE189993. A combined receiver operating characteristic curve showed high diagnostic accuracy (AUC = 0.918). Conclusions: The findings indicate a close relationship of MMD with immune activity and MMS with inflammation, metabolic processes and other environmental factors in a given genetic background. Differentiating between MMD and MMS can enhance the understanding of their pathophysiology and inform the strategies for their diagnoses and treatment.

Indexed as

Bioinformatics analysisGenetic pathologyGO termKEGGMoyamoya diseaseMoyamoya syndromeProtein-protein interaction

Identifiers

PMID39149038
PMCPMC11325278

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.