Unravelling the molecular mechanisms and immune landscape of vitiligo: a comprehensive bioinformatics study on melanogenesis-related genes.

IF 1.2 4区医学 Q2 ANTHROPOLOGY

Annals of Human Biology Pub Date : 2025-12-01 Epub Date: 2025-03-07 DOI:10.1080/03014460.2025.2468692

Binxi Ma, Xiao Wang

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引用次数: 0

Abstract

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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来源期刊

Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生

CiteScore

3.40

自引率

5.90%

发文量

审稿时长

1 months

期刊介绍： Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.