Identification of key genes and pathways in discoid lupus skin via bioinformatics analysis

Medicine (Baltimore). 2021 Apr 23;100(16):e25433. doi: 10.1097/MD.0000000000025433.

Abstract

Discoid lupus erythematosus (DLE) is the most common skin manifestation of lupus; however, the molecular mechanisms underlying DLE remain unknown. Therefore, we aimed to identify key differentially expressed genes (DEGs) in discoid lupus skin and investigate their potential pathways.To identify candidate genes involved in the occurrence and development of the disease, we downloaded the microarray datasets GSE52471 and GSE72535 from the Gene Expression Database (GEO). DEGs between discoid lupus skin and normal controls were selected using the GEO2R tool and Venn diagram software (http://bioinformatics.psb.ugent.be/webtools/Venn/). The Database for Annotation, Visualization, and Integrated Discovery (DAVID), Enrichr, and Cytoscape ClueGo were used to analyze the Kyoto Encyclopedia of Gene and Genome pathways and gene ontology. Protein-protein interactions (PPIs) of these DEGs were further assessed using the Search Tool for the Retrieval Interacting Genes version 10.0.Seventy three DEGs were co-expressed in both datasets. DEGs were predominantly upregulated in receptor signaling pathways of the immune response. In the PPI network, 69 upregulated genes were selected. Furthermore, 4 genes (CXCL10, ISG15, IFIH1, and IRF7) were found to be significantly upregulated in the RIG-I-like receptor signaling pathway, from analysis of Enrichr and Cytoscape ClueGo.The results of this study may provide new insights into the potential molecular mechanisms of DLE. However, further experimentation is required to confirm these findings.

MeSH terms

  • Chemokine CXCL10 / genetics
  • Computational Biology
  • Cytokines / genetics
  • DEAD Box Protein 58 / metabolism
  • Datasets as Topic
  • Gene Expression Profiling
  • Gene Regulatory Networks / immunology*
  • Humans
  • Interferon Regulatory Factor-7 / genetics
  • Interferon-Induced Helicase, IFIH1 / genetics
  • Lupus Erythematosus, Discoid / epidemiology
  • Lupus Erythematosus, Discoid / genetics*
  • Lupus Erythematosus, Discoid / immunology
  • Lupus Erythematosus, Discoid / pathology
  • Oligonucleotide Array Sequence Analysis
  • Protein Interaction Mapping
  • Protein Interaction Maps / genetics
  • Protein Interaction Maps / immunology
  • Receptors, Immunologic / metabolism
  • Signal Transduction / genetics
  • Signal Transduction / immunology
  • Skin / immunology
  • Skin / pathology
  • Software
  • Ubiquitins / genetics
  • Up-Regulation / immunology

Substances

  • CXCL10 protein, human
  • Chemokine CXCL10
  • Cytokines
  • IRF7 protein, human
  • Interferon Regulatory Factor-7
  • Receptors, Immunologic
  • Ubiquitins
  • ISG15 protein, human
  • RIGI protein, human
  • IFIH1 protein, human
  • DEAD Box Protein 58
  • Interferon-Induced Helicase, IFIH1