Abstract

Ankylosing spondylitis (AS) is an autoimmune disease that mainly affects the spinal joints, sacroiliac joints, and adjacent soft tissues. We conducted bioinformatics analysis to explore the molecular mechanism related to AS pathogenesis and uncover novel potential molecular targets for the treatment of AS. The profiles of GSE25101, containing gene expression data extracted from the blood of 16 AS patients and 16 matched controls, were acquired from the Gene Expression Omnibus (GEO) database. The background correction and standardization were carried out utilizing the transcript per million (TPM) method. After analysis of AS patients and the normal groups, we identified 199 differentially expressed genes (DEGs) with upregulation and 121 DEGs with downregulation by the limma R package. The results of the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway and Gene Ontology (GO) biological process enrichment analysis revealed that the DEGs with upregulation were mainly associated with spliceosome, ribosome, RNA-catabolic process, electron transport chain, etc. And the DEGs with downregulation primarily participated in T cell-associated pathways and processes. After analysis of the protein-protein interaction (PPI) network, our data revealed that the hub genes, comprising MRPL13, MRPL22, LSM3, COX7A2, COX7C, EP300, PTPRC, and CD4, could be the treatment targets in AS. Our data furnish new hints to uncover the features of AS and explore more promising treatment targets towards AS.

Highlights

  • Ankylosing spondylitis (AS), which mostly occurs in the sacroiliac joints, spine, and external joints (1), is a rheumatic immune disease with an incidence of 0.3% in China (2)

  • The protein-protein interaction (PPI) network analysis revealed that MRPL13, MRPL22, LSM3, COX7A2, and COX7C were the hub upregulated genes in AS, and EP300, Phosphatase Receptor Type C (PTPRC), and CD4 were the hub genes with downregulation in AS

  • Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) enrichment analyses demonstrated that the upregulated differentially expressed genes (DEGs) were largely associated with spliceosome, ribosome, RNA-catabolic process, and electron transport chain

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Summary

Introduction

Ankylosing spondylitis (AS), which mostly occurs in the sacroiliac joints, spine, and external joints (1), is a rheumatic immune disease with an incidence of 0.3% in China (2). AS patients are mostly young men (3). Most patients have early symptoms like dull pain in the waist, buttocks, and sacroiliac areas, later with complications in the heart, eyes, ears, and nervous system (4). It is only understood that genetic factors play major roles in AS pathogenesis (5). Environmental, immune, metabolic, and other factors are common causes of AS (6). Most patients can be treated with nonsteroidal drugs and exercise. It should be noted that AS does not affect the survival of patients, but it will gradually ruin their lives (4). To avoid the aggravation of AS patients, new treatment methods need to be developed as soon as possible

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