Analysis of differentially expressed genes in vitiligo patients in a cohort of Russian ethnicity

Vitiligo is a chronic autoimmune skin disorder characterized by progressive depigmentation due to melanocyte loss. Its pathogenesis involves complex interactions between genetic, immune, and oxidative factors. Investigating differential gene expression helps identify key molecular mechanisms. Objective. To identify genes with significant differential expression in the affected skin of vitiligo patients and assess their role in the disease pathogenesis. Material and methods. A paired case-control study was conducted on five women of Russian ethnicity (aged 28–43 years) without comorbid autoimmune conditions. Skin biopsies were collected from the center of depigmented lesions and matched with healthy skin specimens. Total RNA was extracted, followed by RNA-seq and bioinformatic analysis using the limma-voom pipeline. Principal component analysis (PCA), heatmap visualization, volcano plots, and GSEA (Gene Set Enrichment Analysis) were applied. Results. Three genes – PMEL, NAT8L, and LGI3 – showed significant downregulation under strict criteria (|log2FC|>1, FDR<0.05). GSEA revealed activation of ribosome biogenesis and DNA repair pathways, alongside suppression of pigmentation and melanin metabolism processes. PCA and heatmaps confirmed data quality and clear separation of samples by clinical status. Conclusion. For the first time in the Russian population, a specific transcriptomic signature of vitiligo was identified, marked by reduced expression of genes involved in pigmentation, neurosecretory regulation, and immune homeostasis. These findings enhance understanding of the disease mechanisms and support future development of diagnostic and therapeutic strategies.
Keywords: vitiligo, differential gene expression, transcriptome, RNA-seq, GSEA, PMEL, NAT8L, LGI3, melanocytes, autoimmune diseases
Conflict of interest. The authors have no conflicts of interest.
Funding. Absent.