Integrative Analysis to Identify Diagnostic Biomarkers (HSP90AA1, VCAM1 and MX1) and Reveal Immune Cell Infiltration Changes in Patients with Vitiligo

Abstract Background This current study applied bioinformatics analysis to reveal the potential role of immune-related genes and blood immune cell infiltration changes in vitiligo development. Methods The gene expression level was obtained from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) were identified between blood samples from patients with segmental vitiligo (SV), non-segmental vitiligo (NSV) and healthy controls (CL), and the DEGS from two sets were used for further analysis respectively, including hub gene exploration, enrichment analysis, interaction network construction and engaged pathway analysis. Immune-related gene crosstalk analysis, gene-miRNA analysis, and AUC analysis were performed for further gene screening. Furthermore, immune cell infiltration analysis was also performed to reveal the change of systemic environment in patients with vitiligo. Results There were 161 DEGs in the comparison of SV and CL, 11 DEGs in NSV and CL. Functional enrichment analysis indicated that DEGS in NSV group mainly involved in responses to virus and type 1 interferon signaling pathway, while DEGS in SV group mainly involved in IL-17 signaling pathway and TNF signaling pathway. After PPI network construction, immune-related gene crosstalk analysis, and verification of diagnostic markers, totally 4 genes were obtained as diagnostic markers (VCAM1, HSP90AA1, TNF from SV group and MX1 from NSV group). Moreover, we found that the infiltrated percentage of resting memory CD4 T cells were both higher in blood samples from patients with segmental vitiligo and non-segmental vitiligo. Conclusion For the first time, VCAM1, HSP90AA1, and MX1 were found associated with vitiligo and had good diagnostic significance. Meanwhile, we found that vitiligo patients had more proportion of resting memory CD4 T cells infiltration in blood. These results may provide new research ideas for the pathogenesis and diagnosis of vitiligo.