Identification of Upregulating Genes, Transcription Factors, and miRNAs in Vitiligo. In silico Study

Depigmentation of specific areas of the skin is a persistent and long-lasting dermatologic disorder known as vitiligo, stemming from the impairment and disruption of melanocytes both structurally and functionally, leading to the loss of pigmentation in those regions.

Our objective was to identify the pivotal genes and upstream regulators, transcription factors (TFs), microRNAs (miRNAs), and pathways implicated in the pathogenesis of vitiligo.

An integrated analysis was conducted using microarray datasets on vitiligo obtained from the Gene Expression Omnibus (GEO) database. The functional annotation and potential pathways of differentially expressed genes (DEGs) were additionally investigated through Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. Various bioinformatics approaches were utilized, making use of publicly accessible databases to identify appropriate TFs and miRNAs.

Our investigation identified TYR, MLANA, TYRP1, PMEL, OCA2, SLC45A2, GPR143, DCT, TRPM1, and EDNRB as the most appropriate genes associated with vitiligo. Our suggestion is that the identified biological processes include developmental pigmentation (GO:0048066) and pigment metabolic processes (GO:0042440) as the most suitable biological processes. In contrast, the KEGG pathways that showed significance in our analysis are Tyrosine metabolism (Path: hsa00350) and Melanogenesis (Path: hsa04916). We hypothesized the involvement of ten TFs and 73 miRNAs in the regulation of genes related to vitiligo.

TYR, MLANA, TYRP1, PMEL, OCA2, SLC45A2, GPR143, DCT, TRPM1, and EDNRB are the top ten genes that are pivotal in the progression and exhibition of vitiligo. The biological, cellular, molecular, and KEGG pathways of those genes has an imperative role in the pathogenesis of vitiligo. TFs and miRNAs that interact with this gene are listed, shedding light on the regulatory mechanisms governing the expression of these key genes in vitiligo.