Abstract

Recent studies have reported that circular RNAs (circRNAs) play a crucial regulatory role in a variety of human diseases. However, the roles of circRNAs in ankylosing spondylitis (AS) remain unclear. In this study, we conducted circRNA expression profiling of the spinal ligament tissues of patients with AS by RNA sequencing (RNA-seq) and analyzed the potential functions of differentially expressed circRNA by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) analyses to investigate the potential mechanisms associated with AS. The results showed that a total of 1,172 circRNAs were detected in the spinal ligament tissue samples, of which 123 circRNAs were significantly differentially expressed by a fold change ≥ 1.5 and p value < 0.05. Among these, 57 circRNAs were upregulated, and 66 were downregulated. GO and KEGG analyses demonstrated that the differentially expressed circRNAs were mainly involved in the regulation of biological processes of peptidyl-serine phosphorylation and human immune system that may be related to AS. In addition, the circRNA/miRNA interaction networks were established to predict the potential roles of differentially expressed circRNAs by bioinformatics analysis. Taken together, these results revealed the expression profiles of circRNAs and the potential functions of the differentially expressed circRNAs in the spinal ligament tissue of patients with AS, which may provide new clues for understanding the mechanisms associated with AS, and proceed to identify novel potential molecular targets for the diagnoses and treatment of AS.

Highlights

  • Ankylosing spondylitis (AS), which most commonly affects the sacroiliac joint and the axial joint of the spine, is an autoimmune disorder with a global incidence of about 2%-5%, and the patients with AS are often young and middle-aged male [1]

  • To identify differentially expressed circRNAs in patients with AS, RNA sequencing was used for circRNA expression profiling in the spinal ligament tissue samples from three AS patients and three patients with lumbar disc herniation

  • No differentially expressed circRNAs were observed on chr15 and chr20, and only the upregulated circRNAs from chr12, chr18, chr21, and chrY were transcribed, whereas the upregulated and downregulated circRNAs were transcribed from all other chromosomes except for chr 22, which only had one downregulated circRNA (Figure 1(b))

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Summary

Introduction

Ankylosing spondylitis (AS), which most commonly affects the sacroiliac joint and the axial joint of the spine, is an autoimmune disorder with a global incidence of about 2%-5%, and the patients with AS are often young and middle-aged male [1]. The typical clinicopathological features of AS are inflammation and new bone formation in sacroiliac joint, spine, and peripheral joints (especially hip joint), which result in ankylosis [2]. A lot of results have indicated that the inflammation in AS initially occurs at the tendonbone interface, leading to bone proliferation [2,3,4]. Progress in the early diagnosis and treatment of AS has been achieved, while the effect of clinical treatment is not as well as people expected. Many studies suggested that AS has a high heritability [5]; the pathogenesis of AS has been more likely multifactorial and poorly understood to date. To elucidate the pathogenesis of AS would be of great value in theory and clinical applications

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