Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling

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 landsc...

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Bibliographic Details
Published in:Biomolecules (Basel, Switzerland) Switzerland), 2022-09, Vol.12 (10), p.1371
Main Authors: de Oliveira, Ana Sofia Lima Estevao, Bloise, Giovanna, Moltrasio, Chiara, Coelho, Antonio, Agrelli, Almerinda, Moura, Ronald, Tricarico, Paola Maura, Jamain, Stéphane, Marzano, Angelo Valerio, Crovella, Sergio, Cavalcanti Brandão, Lucas André
Format: Article
Language:English
Subjects:
Abscesses
Acne
acne inversa
Adipokines
Archives & records
Biomarkers
Biopsy
Data collection
Epithelium
Follicles
Gene expression
Genetic aspects
Genomes
Genotype & phenotype
Health aspects
Hidradenitis Suppurativa - genetics
Hidradenitis Suppurativa - metabolism
Humans
Inflammation
Inflammation - complications
Inflammation - genetics
Life Sciences
Meta-analysis
Metabolism
Methods
Mutation
OMICs
Pathogenesis
Physiological aspects
Ribonucleic acid
RNA
RNA sequencing
Serpins
Skin
Skin diseases
Software
Transcriptome
Transcriptomes
variant enrichment analysis
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Summary: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 , , serpin-family genes, and 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.
ISSN:2218-273X
2218-273X
DOI:10.3390/biom12101371