دورية أكاديمية

Identification of immune related cells and crucial genes in the peripheral blood of ankylosing spondylitis by integrated bioinformatics analysis

التفاصيل البيبلوغرافية
العنوان: Identification of immune related cells and crucial genes in the peripheral blood of ankylosing spondylitis by integrated bioinformatics analysis
المؤلفون: Yang Zheng, Bingbing Cai, Conglin Ren, Haipeng Xu, Weibin Du, Yijiang Wu, Fu Lin, Helou Zhang, Renfu Quan
المصدر: PeerJ, Vol 9, p e12125 (2021)
بيانات النشر: PeerJ Inc., 2021.
سنة النشر: 2021
المجموعة: LCC:Medicine
LCC:Biology (General)
مصطلحات موضوعية: Ankylosing spondylitis, Immune infiltration, Crucial genes, Bioinformatics analysis, Medicine, Biology (General), QH301-705.5
الوصف: Background Ankylosing spondylitis (AS) is a progressive rheumatic disease and studies reveal that the immune system is critical for the pathogenesis of AS. In the present study, various bioinformatics analysis methods were comprehensively applied, designed to identify potential key genes and inflammation states of AS. Methods The transcriptome profiles of GSE25101 and GSE73754 obtained from the Gene Expression Omnibus (GEO) database were merged for subsequent analyses. The differentially expressed genes (DEGs) were identified using the Bioconductor package Limma and threshold values. Functional enrichment and pathway enrichment analyses were performed using the clusterProfiler package and Gene Set Enrichment Analysis (GSEA). Next, protein–protein interaction (PPI) network of the identified DEGs was constructed by the online database, the Search Tool for the Retrieval of Interacting Genes (STRING), visualization and analysis were performed through Cytoscape software. Subsequently, we applied CIBERSORT algorithm to identify subpopulation proportions of immune cells in peripheral blood samples. Finally, we validated the hub genes with the GSE18781 dataset. Samples were collected from patients to validate gene and protein expression using qRT-PCR and ELISA. Results A total of 334 DEGs were identified, including 182 upregulated and 152 downregulated DEGs, between AS patients and normal human controls, which were primarily involved in immune response, autophagy, and natural killer cell-mediated cytotoxicity. The most prominent module and candidate biomarkers were identified from the PPI network. Biomarkers were selected for validation and their expressions were significantly decreased in peripheral blood samples which was consistent with transcriptome sequencing results. Nine genes with AUC > 0.70 were considered to be AS hub genes for ROC curve analysis, including GZMA, GZMK, PRF1, GNLY, NKG7, KLRB1, KLRD1, IL2RB and CD247. Furthermore, CIBERSORT results suggest that AS contained a higher proportion of CD8+ T cells, naive CD4+ T cells, neutrophils, and lower levels of gamma delta T cells compared with the normal controls. Conclusion In this study, we identified DEGs combined with their closely related biological functions and propose that granule-associated proteins and immune infiltration maybe involved in the progression of ankylosing spondylitis. These validated hub genes may provide new perspectives for understanding the molecular mechanisms of ankylosing spondylitis.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2167-8359
Relation: https://peerj.com/articles/12125.pdf; https://peerj.com/articles/12125/; https://doaj.org/toc/2167-8359
DOI: 10.7717/peerj.12125
URL الوصول: https://doaj.org/article/bd6885336c1d49e39d0741b518e7d165
رقم الأكسشن: edsdoj.bd6885336c1d49e39d0741b518e7d165
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:21678359
DOI:10.7717/peerj.12125