期刊
BIOMOLECULES
卷 12, 期 10, 页码 -出版社
MDPI
DOI: 10.3390/biom12101371
关键词
acne inversa; variant enrichment analysis; OMICs
资金
- 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]
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据