Enhanced migration and adhesion of peripheral blood neutrophils from SAPHO patients revealed by RNA-Seq
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(2019) 14:192
RESEARCH
Open Access
Enhanced migration and adhesion of peripheral blood neutrophils from SAPHO patients revealed by RNA-Seq Yuxiu Sun1†, Chen Li2†, Mengmeng Zhu1, Shen Zhang1, Yihan Cao3, Qiao Yang4, Pengfei Zhao1, Guangrui Huang1* and Anlong Xu1,5*
Abstract Background: SAPHO syndrome is a rare disease characterized by inflammatory lesions on skin and bones. Diversified manifestation and inadequate understanding of etiology has limited its diagnosis and treatment. The co-occurrence of other immune-mediated diseases strongly suggests an involvement of autoimmunity in SAPHO syndrome. However, the role of the largest population of circulating immune cells, neutrophils, is still not well explored. In this study, we performed RNA sequencing to profile the mRNA expression of neutrophils purified from peripheral blood of SAPHO patients to identify key genes associated with SAPHO syndrome, trying to find new functional molecules or biomarkers for this rare disease. Results: A total of 442 differentially expressed genes were identified (p < 0.05, fold change > 2), in which 294 genes were upregulated and 148 genes were downregulated. Five differentially expressed genes of interest were verified by quantitative Real-Time Polymerase Chain Reaction (qRT-PCR), among which S100A12 was upregulated and positively related to high-sensitivity C-reactive protein (hsCRP), while the downregulated gene MYADM was positively related to osteocalcin. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis showed that differentially expressed genes were enriched in “systemic lupus erythematosus” and “ECM-receptor interaction”. Gene ontology (GO) enrichment showed that differentially expressed genes may participate in biological processes such as “cell migration” and “cell adhesion”. Conclusions: In conclusion, this study provides a first insight into transcriptome characteristics of SAPHO syndrome, indicating an over-active neutrophil recruitment in patients and possibly suggesting molecular candidates for further study on diagnosis and pathology of this disease. Keywords: SAPHO syndrome, RNA-Seq, Neutrophil, Cell adhesion, Cell migration
Introduction SAPHO syndrome is a relatively rare disease known under the acronym of SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis), which was first named by French rheumatologists in 1987 [1]. It is characterized by a wide range of dermatological and osteoarticular lesions, involvement of characteristic target sites (such as anterior chest wall, axial skeleton and pelvic bones [2]), and a clinical course of recurrently relapses and remissions without * Correspondence: [email protected]; [email protected] † Yuxiu Sun and Chen Li contributed equally to this work. 1 School of Life Sciences, Beijing University of Chinese Medicine, Beijing, China Full list of author information is available at the end of the article
specific histopathologic features [3]. Lacking of validated molecular diagnostic criteria, the diagnosis of SAPHO syndrome is challenging and mainly based on clin
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