Gene expression profiling in dermatitis herpetiformis skin lesions

M. Dolcino, E. Cozzani, S. Riva, A. Parodi, E. Tinazzi, C. Lunardi, A. Puccetti

Research output: Contribution to journalArticle

Abstract

Dermatitis herpetiformis (DH) is an autoimmune blistering skin disease associated with gluten-sensitive enteropathy (CD). In order to investigate the pathogenesis of skin lesions at molecular level, we analysed the gene expression profiles in skin biopsies from 6 CD patients with DH and 6 healthy controls using Affymetrix HG-U133A 2.0 arrays. 486 genes were differentially expressed in DH skin compared to normal skin: 225 were upregulated and 261 were downregulated. Consistently with the autoimmune origin of DH, functional classification of the differentially expressed genes (DEGs) indicates a B- and T-cell immune response (LAG3, TRAF5, DPP4, and NT5E). In addition, gene modulation provides evidence for a local inflammatory response (IL8, PTGFR, FSTL1, IFI16, BDKRD2, and NAMPT) with concomitant leukocyte recruitment (CCL5, ENPP2), endothelial cell activation, and neutrophil extravasation (SELL, SELE). DEGs also indicate overproduction of matrix proteases (MMP9, ADAM9, and ADAM19) and proteolytic enzymes (CTSG, ELA2, CPA3, TPSB2, and CMA1) that may contribute to epidermal splitting and blister formation. Finally, we observed modulation of genes involved in cell growth inhibition (CGREF1, PA2G4, and PPP2R1B), increased apoptosis (FAS, TNFSF10, and BASP1), and reduced adhesion at the dermal epidermal junction (PLEC1, ITGB4, and LAMA5). In conclusion, our results identify genes that are involved in the pathogenesis of DH skin lesions.

Original languageEnglish
Article number198956
JournalClinical and Developmental Immunology
Volume2012
DOIs
Publication statusPublished - 2012

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Dermatitis Herpetiformis
Gene Expression Profiling
Skin
Genes
TNF Receptor-Associated Factor 5
Peptide Hydrolases
Neutrophil Activation
Celiac Disease
Blister
Interleukin-8
Transcriptome
Skin Diseases
Leukocytes
Down-Regulation
Endothelial Cells
Apoptosis
T-Lymphocytes
Biopsy
Growth

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Medicine(all)

Cite this

Gene expression profiling in dermatitis herpetiformis skin lesions. / Dolcino, M.; Cozzani, E.; Riva, S.; Parodi, A.; Tinazzi, E.; Lunardi, C.; Puccetti, A.

In: Clinical and Developmental Immunology, Vol. 2012, 198956, 2012.

Research output: Contribution to journalArticle

Dolcino, M. ; Cozzani, E. ; Riva, S. ; Parodi, A. ; Tinazzi, E. ; Lunardi, C. ; Puccetti, A. / Gene expression profiling in dermatitis herpetiformis skin lesions. In: Clinical and Developmental Immunology. 2012 ; Vol. 2012.
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