Abstract
BackgroundAnkylosing spondylitis (AS) is an autoimmune rheumatic disease. Few candidate gene associations have been reported for AS and the current understanding of its pathogenesis remains still poor. Thus, the exact mechanism of AS is needed to urgently be disclosed. The purpose of this study was to identify candidate genes involving in AS disease.Methods and resultsGSE25101 publicly available microarray and GSE117769 RNA-seq datasets of AS patients were obtained for bioinformatics analyses. Gene set enrichment analysis showed that in the microarray dataset, the ribosome pathway was significantly up-regulated in AS compared with controls. Furthermore, some ribosomal components demonstrated overexpression in patients in the RNA-seq dataset. To confirm the findings, 20 AS patients and 20 matching controls were selected from the Rheumatology Research Center clinic, Shariati Hospital. PBMCs were separated from whole blood and RNA contents were extracted. Following the results of datasets analysis, the expression level of rRNA5.8S pseudogene, rRNA18S pseudogene, RPL23, RPL7, and RPL17 genes were measured through real-time PCR. Our findings showed dysregulation of rRNA5.8S and rRNA18S pseudogenes, and also the RPL17 gene in patients.ConclusionConsidering that genes involved in ribosome biogenesis contributed to some AS-associated biological processes as well as diseases that have comorbidities with AS, our results might advance our understanding of the pathological mechanisms of ankylosing spondylitis.
Highlights
Ankylosing spondylitis (AS) is the major subtype of spondyloarthropathies, which is one of chronic inflammatory arthritis [1, 2]
Considering that genes involved in ribosome biogenesis contributed to some AS-associated biological processes as well as diseases that have comorbidities with AS, our results might advance our understanding of the pathological mechanisms of ankylosing spondylitis
Bioinformatics analysis outcomes The analysis of the microarray dataset identified that ribosome pathway was significantly enriched by utilizing the Gene Set Enrichment Analysis (GSEA) method (normalized enrichment score (NES) = 2.18, false discovery rate (FDR p-value) = 0.000, and p-value = 0.000) (Fig. 1b)
Summary
Ankylosing spondylitis (AS) is the major subtype of spondyloarthropathies, which is one of chronic inflammatory arthritis [1, 2]. Genetic association studies reveal that HLA-B27 only contributes to approximately 20% of AS heritability and 30% of the overall risk for AS [5, 6]. Previous studies suggested that AS is a multifactorial disease and the susceptibility to this disorder may be own to genetic and environmental factors [7]. Few genes associated with the disease were identified and the actual cause of AS has remained unclear [8]. There is a crucial necessity to investigate the molecular mechanisms of AS in order to find more. Few candidate gene associations have been reported for AS and the current understanding of its pathogenesis remains still poor. The exact mechanism of AS is needed to urgently be disclosed. The purpose of this study was to identify candidate genes involving in AS disease
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