Bioinformatics analysis reveals the landscape of immune cell infiltration and novel immune-related biomarkers in moyamoya disease

Frontiers in Genetics

Genetics

Yunzheng Ai¹  Guobiao Liang¹  Dongming Yan²  Yang Dong²  Hao Wang²  Manxia Zhang²  Bo Yang²  Kaiwen Sun²  Chenchao Wang²  Hongwei Li²  Lei Cao²  Dongpeng Li² 

[1] Department of Neurosurgery, General Hospital of Northern Theater Command, Shenyang, China;Department of Neurosurgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China;

关键词: MMD;    immune infiltration;    biomarkers;    bioinformatics analysis;    WGCNA;   

DOI  :  10.3389/fgene.2023.1101612

 received in 2022-11-18, accepted in 2023-04-28,  发布年份 2023

来源: Frontiers

【 摘 要 】

Objective: This study aimed to identify immune infiltration characteristics and new immunological diagnostic biomarkers in the cerebrovascular tissue of moyamoya disease (MMD) using bioinformatics analysis.Methods: GSE189993 and GSE141022 were downloaded from the GEO database. Differentially expressed gene and PPI analysis were performed. After performing WGCNA, the most significant module associated with MMD was obtained. Next, functional pathways according to GSEA, GO, and KEGG were enriched for the aforementioned core genes obtained from PPI and WGCNA. Additionally, immune infiltration, using the CIBERSORT deconvolution algorithm, immune-related biomarkers, and the relationship between these genes, was further explored. Finally, diagnostic accuracy was verified with ROC curves in the validation dataset GSE157628.Results: A total of 348 DEGs were screened, including 89 downregulated and 259 upregulated genes. The thistlel module was detected as the most significant module associated with MMD. Functional analysis of the core genes was chiefly involved in the immune response, immune system process, protein tyrosine kinase activity, secretory granule, and so on. Among 13 immune-related overlapping genes, 4 genes (BTK, FGR, PTPN11, and SYK) were identified as potential diagnostic biomarkers, where PTPN11 showed the highest specificity and sensitivity. Meanwhile, a higher proportion of eosinophils, not T cells or B cells, was demonstrated in the specific immune infiltration landscape of MMD.Conclusion: Immune activities and immune cells were actively involved in the progression of MMD. BTK, FGR, PTPN11, and SYK were identified as potential immune diagnostic biomarkers. These immune-related genes and cells may provide novel insights for immunotherapy in the future.

【 授权许可】

Unknown   
Copyright © 2023 Cao, Ai, Dong, Li, Wang, Sun, Wang, Zhang, Yan, Li, Liang and Yang.