Abstract
The onset of Sjögren's syndrome (SS) is hidden, early diagnosis is difficult, and the disorder seriously endangers the physical and mental health of affected people. This study aims to identify potential biomarkers of SS and to investigate the characteristics of immune cell infiltration. We used four SS gene expression profile data series from the Gene Expression Omnibus database, and applied bioinformatics analysis and machine learning algorithms to screen two biomarkers, SELL (L-selectin) and IFI44 (interferon-induced protein 44), from 101 differentially expressed genes. The two-gene model comprising SELL and IFI44 showed good diagnostic ability for SS in the training set (AUC = 0.992) and verification set (AUC = 0.917). Analysis of infiltrating immune cells in SS identified naive B cells, resting CD4 memory T cells, activated CD4 memory T cells, gamma delta T cells, M0 macrophages, M1 macrophages, plasma cells, CD8 T cells, activated NK cells and monocytes as candidate participants in the SS process. Furthermore, SELL was associated with M2 macrophages, activated CD4 memory T cells, gamma delta T cells, resting NK cells and plasma cells, while IFI44 was associated with activated mast cells, resting NK cells, resting mast cells and CD8 T cells. This study demonstrates that SELL and IFI44 can serve as good diagnostic markers for SS and may also be new diagnostic and therapeutic targets for SS.
Highlights
Sjögren’s syndrome (SS) is among the most common chronic systemic autoimmune diseases, but its pathogenesis is still not fully understood.According to whether or not it occurs with other autoimmune diseases, it can be divided into primary and secondary SS, and women are more commonly affected than men (Dolcino et al, 2019)
The Gene Ontology (GO) analysis results show that differentially expressed genes (DEGs) are mainly related to defense response to virus, response to virus and type I interferon signaling pathway; external side of plasma membrane, MHC protein complex and endocytic vesicle membrane; and cytokine receptor binding, Fig. 2
SS is a chronic inflammatory autoimmune disease characterized by lymphocytic infiltration at the exocrine glands and other extra-glandular sites, resulting in dryness of the mouth and eyes (Hwang et al, 2013)
Summary
Sjögren’s syndrome (SS) is among the most common chronic systemic autoimmune diseases, but its pathogenesis is still not fully understood. According to whether or not it occurs with other autoimmune diseases, it can be divided into primary and secondary SS, and women are more commonly affected than men (Dolcino et al, 2019). Due to the mild early symptoms of SS and the lack of reliable early diagnostic markers, it is often ignored, and most patients have a poor clinical prognosis. It is important to identify novel biomarkers and determine the molecular mechanisms of SS to improve the early diagnosis and treatment of patients with SS, improving their prognosis.
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