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Identification of Proteomic Biomarkers and Therapeutic Targets for Vitiligo Using a Two-Sample Proteome-Wide Mendelian Randomization Approach

  • 0Department of Dermatology, Suining Central Hospital, Suining, Sichuan, China.
Journal of Cosmetic Dermatology +

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August 26, 2025

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August 26, 2025

View abstract on PubMed

Summary

This summary is machine-generated.

This study identifies seven proteins, including HERC4 and NDC80, causally linked to vitiligo risk. These findings pave the way for new diagnostic biomarkers and targeted therapies for vitiligo management.

Area Of Science

  • Genetics and immunology
  • Proteomics and systems biology
  • Dermatology and autoimmune diseases

Background

  • Vitiligo is a chronic autoimmune disorder causing depigmented skin patches due to melanocyte loss.
  • Current vitiligo treatments are limited by an incomplete understanding of its pathogenesis.
  • Identifying novel biomarkers and therapeutic targets is crucial for advancing vitiligo management.

Purpose Of The Study

  • To identify candidate protein biomarkers for vitiligo.
  • To discover potential therapeutic targets for vitiligo.
  • To integrate large-scale proteomics and genomic data using Mendelian randomization (MR).

Main Methods

  • Utilized two-sample Mendelian randomization (MR) analysis.
  • Integrated genome-wide association study (GWAS) data for vitiligo with plasma proteomic data from the Decode cohort.
  • Employed five complementary MR methods, enrichment analyses, transcriptomic datasets, single-cell RNA sequencing, and molecular docking for validation.

Main Results

  • Identified seven proteins (HEPHL1, PRDX1, DEFA1, CSGALNACT2, HERC4, NDC80, SPHK2) causally associated with vitiligo risk.
  • HERC4 and NDC80 showed robust expression in vitiligo lesions.
  • Enrichment analyses implicated these proteins in oxidative stress, immune modulation, and cellular signaling; molecular docking suggested zoledronic acid and gramine as potential therapeutics.

Conclusions

  • Integrative MR analysis identified novel protein biomarkers and therapeutic targets for vitiligo, notably HERC4 and NDC80.
  • These findings may lead to improved diagnostic tools and targeted therapies for vitiligo.
  • The study advances precision medicine approaches for vitiligo management.

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