Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
Author | de Oliveira, Ana Sofia Lima Estevao |
Author | Bloise, Giovanna |
Author | Moltrasio, Chiara |
Author | Coelho, Antonio |
Author | Agrelli, Almerinda |
Author | Moura, Ronald |
Author | Tricarico, Paola Maura |
Author | Jamain, Stéphane |
Author | Marzano, Angelo Valerio |
Author | Crovella, Sergio |
Author | Cavalcanti Brandão, Lucas André |
Available date | 2022-11-02T07:17:10Z |
Publication Date | 2022-10-01 |
Publication Name | Biomolecules |
Identifier | http://dx.doi.org/10.3390/biom12101371 |
Citation | de Oliveira, A.S.L.E.; Bloise, G.; Moltrasio, C.; Coelho, A.; Agrelli, A.; Moura, R.; Tricarico, P.M.; Jamain, S.; Marzano, A.V.; Crovella, S.; Cavalcanti Brandão, L.A. Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling. Biomolecules 2022, 12, 1371. https://doi.org/10.3390/biom12101371 |
Abstract | 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. |
Sponsor | This work was supported by “Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—Brasil (CAPES)”—Finance Code 001, Fondation René Touraine, “Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)” (311415/2020-2 and 430353/2018-9), and EraPerMed 2018-17 European Community funds. L.A.C.B. is supported by CNPq (311415/2020-2). This work was also supported by the Italian Ministry of Health, through the contribution given to the Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy for the Starting Grant (SG-2019-12369421) and for RC03/2020. |
Language | en |
Publisher | MDPI |
Subject | acne inversa OMICs variant enrichment analysis |
Type | Article |
Issue Number | 10 |
Volume Number | 12 |
ESSN | 2218-273X |
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