The changes of gene expression profiling between segmental vitiligo, generalized vitiligo and healthy individual

J Dermatol Sci. 2016 Oct;84(1):40-49. doi: 10.1016/j.jdermsci.2016.07.006. Epub 2016 Jul 12.


Background: Vitiligo is a common acquired depigmentation skin disease characterized by loss or dysfunction of melanocytes within the skin lesion, but its pathologenesis is far from lucid. The gene expression profiling of segmental vitiligo (SV) and generalized vitiligo (GV) need further investigation.

Objective: To better understanding the common and distinct factors, especially in the view of gene expression profile, which were involved in the diseases development and maintenance of segmental vitiligo (SV) and generalized vitiligo (GV).

Methods: Peripheral bloods were collected from SV, GV and healthy individual (HI), followed by leukocytes separation and total RNA extraction. The high-throughput whole genome expression microarrays were used to assay the gene expression profiles between HI, SV and GV. Bioinformatics tools were employed to annotated the biological function of differently expressed genes. Quantitative PCR assay was used to validate the gene expression of array.

Results: Compared to HI, 239 over-expressed genes and 175 down-expressed genes detected in SV, 688 over-expressed genes and 560 down-expressed genes were found in GV, following the criteria of log2 (fold change)≥0.585 and P value<0.05. In these differently expressed genes, 60 over-expressed genes and 60 down-expressed genes had similar tendency in SV and GV. Compared to SV, 223 genes were up regulated and 129 genes were down regulated in GV. In the SV with HI as control, the differently expressed genes were mainly involved in the adaptive immune response, cytokine-cytokine receptor interaction, chemokine signaling, focal adhesion and sphingolipid metabolism. The differently expressed genes between GV and HI were mainly involved in the innate immune, autophagy, apoptosis, melanocyte biology, ubiquitin mediated proteolysis and tyrosine metabolism, which was different from SV. While the differently expressed genes between SV and GV were mainly involved in the metabolism pathway of purine, pyrimidine, glycolysis and sphingolipid.

Conclusions: Above results suggested that they not only shared part bio-process and signal pathway, but more important, they utilized different biological mechanism in their pathogenesis and maintenance. Our results provide a comprehensive view on the gene expression profiling change between SV and GV especially in the side of leukocytes, and may facilitate the future study on their molecular mechanism and theraputic targets.

Keywords: Cytokine; Gene expression profile; Generalized vitiligo; Melanocyte; Segmental vitiligo.

MeSH terms

  • Adolescent
  • Adult
  • Apoptosis
  • Autophagy
  • Case-Control Studies
  • Cluster Analysis
  • Computational Biology
  • Cytokines / metabolism
  • Female
  • Gene Expression Profiling
  • Gene Expression Regulation*
  • Genetic Predisposition to Disease
  • Glycolysis
  • Humans
  • Immune System
  • Male
  • Melanocytes / cytology
  • Oxidation-Reduction
  • Purines / chemistry
  • Pyrimidines / chemistry
  • Reactive Oxygen Species / metabolism
  • Sphingolipids / chemistry
  • Transcriptome*
  • Vitiligo / genetics*
  • Young Adult


  • Cytokines
  • Purines
  • Pyrimidines
  • Reactive Oxygen Species
  • Sphingolipids