Journal
BIOMOLECULES
Volume 12, Issue 10, Pages -Publisher
MDPI
DOI: 10.3390/biom12101371
Keywords
acne inversa; variant enrichment analysis; OMICs
Categories
Funding
- Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior-Brasil (CAPES) [001]
- Fondation Rene Touraine
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [311415/2020-2, 430353/2018-9]
- EraPerMed European Community funds
- CNPq [311415/2020-2]
- Italian Ministry of Health [SG-2019-12369421, RC03/2020]
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This study provides new insights into the pathogenesis and pathophysiology of HS, and identifies potential HS-related biomarkers.
Hidradenitis suppurativa (HS) is an inflammatory skin condition clinically characterized by recurrent painful deep-seated nodules, abscesses, and sinus tracks in areas bearing apocrine glands, such as axillae, breasts, groins, and buttocks. Despite many recent advances, the pathophysiological landscape of HS still demands further clarification. To elucidate HS pathogenesis, we performed a meta-analysis, set analysis, and a variant calling on selected RNA-Sequencing (RNA-Seq) studies on HS skin. Our findings corroborate the HS triad composed of upregulated inflammation, altered epithelial differentiation, and dysregulated metabolism signaling. Upregulation of specific genes, such as KRT6, KRT16, serpin-family genes, and SPRR3 confirms the early involvement of hair follicles and the impairment of barrier function in HS lesioned skin. In addition, our results suggest that adipokines could be regarded as biomarkers of HS and metabolic-related disorders. Finally, the RNA-Seq variant calling identified several mutations in HS patients, suggesting potential new HS-related genes associated with the sporadic form of this disease. Overall, this study provides insights into the molecular pathways involved in HS and identifies potential HS-related biomarkers.
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