Unravelling the molecular mechanisms and immune landscape of vitiligo: a comprehensive bioinformatics study on melanogenesis-related genes
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Updated: May 23, 2025

Pharmacologic Induction of Epidermal Melanin and Protection Against Sunburn in a Humanized Mouse Model
Published on: September 7, 2013
1Yulin Hospital of the First Affiliated Hospital of Xi'an Jiaotong University, Yulin, Shaanxi, China.
Background:
Vitiligo is an autoimmune disorder marked by melanocyte destruction and skin depigmentation.
Aim:
To explore the molecular mechanisms underlying melanogenesis and their link to vitiligo.
Subjects And Methods:
We analysed three vitiligo-related datasets, correcting for batch effects with ComBat. Key melanogenesis genes were pinpointed using LASSO and logistic regression, and a nomogram was developed. The immune microenvironment was evaluated by ssGSEA, and correlations between gene expression, melanogenesis pathways, and immune cell infiltration were examined.
Results:
We identified 2,405 DEGs, with 960 up-regulated and 1,445 down-regulated genes in vitiligo samples. GSVA indicated significant disturbances in melanogenesis pathways. ssGSEA revealed reduced activity in REACTOME_MELANIN_BIOSYNTHESIS and KEGG_MELANOGENESIS pathways. Three key diagnostic genes (CALM2, KIT, OCA2) were found and used to build a highly accurate predictive nomogram. Immune cell analysis showed increased T helper and Th2 cells in vitiligo, correlating with both diagnostic genes and melanogenic pathways.
Conclusion:
This study identifies crucial melanogenesis-related genes and provides a predictive model for vitiligo risk. It underscores the relationship between impaired melanogenesis and immune cell infiltration, suggesting potential therapeutic targets.
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