Scholarlink

<p>Vitiligo is a chronic, acquired pigmentary disorder characterized by the selective loss of melanocytes, leading to depigmented patches on the skin, hair, and mucous membranes. Although not life‐threatening, vitiligo imposes significant psychosocial burdens. Its multifactorial etiology involves genetic predisposition, immune dysregulation, environmental factors and oxidative stress. Recent advances in multi‐omics technologies have enabled the integration of genomic, transcriptomic, proteomic, metabolomic, and lipidomic data to elucidate the molecular networks underlying melanocyte loss. We retrieved computationally curated gene–disease associations from DisGeNET for vitiligo (CUI-C0042900) and its subtypes including progressive vitiligo (CUI-C3806428), segmental vitiligo (CUI-C1274648), and localized vitiligo (CUI-C1304469). The genes were subjected to gene set enrichment analysis via Enrichr. Our results revealed significant enrichment in immune-related processes, including cytokine production, antigen presentation via MHC class II, and inflammatory signalling mediated by tumor necrosis factor and interferon—gamma. Oxidative stress and metabolic perturbations were associated with enrichment in ROS-related functions. Enrichment of transcription factors RELA, PRDM14, and IRF8 was observed in response to the gene set associated with vitiligo. These findings underscore the convergent roles of immune-mediated damage, and oxidative stress imbalance in vitiligo. The integration of multiple gene set enrichments may enable better understanding of immune dysfunctions in vitiligo. Our results provide a basis that may be considered for future in vitro and in vivo validation studies.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Gene set enrichment and ontology analysis in vitiligo: unveiling melanocyte dysfunction

  • 期刊论文

  • 发表日期：

    2025年11月21日

查看全文
  • Sampara Vasishta,
  • Usha Adiga,
  • Sachidananda Adiga,
  • Alfred J. Augustine

摘要

Vitiligo is a chronic, acquired pigmentary disorder characterized by the selective loss of melanocytes, leading to depigmented patches on the skin, hair, and mucous membranes. Although not life‐threatening, vitiligo imposes significant psychosocial burdens. Its multifactorial etiology involves genetic predisposition, immune dysregulation, environmental factors and oxidative stress. Recent advances in multi‐omics technologies have enabled the integration of genomic, transcriptomic, proteomic, metabolomic, and lipidomic data to elucidate the molecular networks underlying melanocyte loss. We retrieved computationally curated gene–disease associations from DisGeNET for vitiligo (CUI-C0042900) and its subtypes including progressive vitiligo (CUI-C3806428), segmental vitiligo (CUI-C1274648), and localized vitiligo (CUI-C1304469). The genes were subjected to gene set enrichment analysis via Enrichr. Our results revealed significant enrichment in immune-related processes, including cytokine production, antigen presentation via MHC class II, and inflammatory signalling mediated by tumor necrosis factor and interferon—gamma. Oxidative stress and metabolic perturbations were associated with enrichment in ROS-related functions. Enrichment of transcription factors RELA, PRDM14, and IRF8 was observed in response to the gene set associated with vitiligo. These findings underscore the convergent roles of immune-mediated damage, and oxidative stress imbalance in vitiligo. The integration of multiple gene set enrichments may enable better understanding of immune dysfunctions in vitiligo. Our results provide a basis that may be considered for future in vitro and in vivo validation studies.