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Updated: Jun 26, 2026
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Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
Published on: March 12, 2021
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Integrating Multiomic Mendelian Randomization, Microarray, Single-Cell RNA Sequencing, and Spatial RNA Sequencing to
Jiangfeng Huang1, Yibo Hu2, Yushan Zhang1
1Department of Dermatology, Third Xiangya Hospital, Central South University, Changsha, China.
The Journal of Investigative Dermatology
|September 26, 2025
Summary
Cathepsin S (CTSS) upregulation, driven by oxidative stress, contributes to vitiligo by promoting immune cell activation and cell death. Inhibiting CTSS may offer a novel therapeutic strategy for vitiligo.
Area of Science:
- Dermatology
- Immunology
- Genetics
Background:
- Vitiligo is a chronic skin condition involving melanocyte destruction.
- Current vitiligo treatments have limited effectiveness, necessitating new therapeutic targets.
Purpose of the Study:
- To identify novel therapeutic targets for vitiligo using multiomics Mendelian randomization.
- To investigate the role of Cathepsin S (CTSS) in vitiligo pathogenesis.
Main Methods:
- Multiomics Mendelian randomization analysis integrating genetic data with vitiligo GWAS.
- Analysis of clinical samples and transcriptomic data (single-cell and spatial).
- In vitro experiments to study CTSS regulation by oxidative stress.
Main Results:
- CTSS was identified as a high-potential therapeutic target.
- CTSS is upregulated in vitiligo lesions and associated with immune cell infiltration.
- Oxidative stress promotes CTSS expression via IRF1, leading to damage-associated molecular pattern release and immunogenic cell death.
Conclusions:
- Oxidative stress-mediated CTSS upregulation drives autoimmune responses in vitiligo.
- CTSS inhibition presents a potential therapeutic avenue for vitiligo treatment.
