A Hidradenitis Suppurativa Molecular Disease Signature Derived from Patient Samples by High-Throughput RNA Sequencing. A Hidradenitis Suppurativa Molecular Disease Signature Derived from Patient Samples by High-Throughput RNA Sequencing

Hidradenitis suppurativa is a common, debilitating inflammatory skin disease linked to immune dysregulation and abnormalities in follicular structure and function. Few studies have characterized the transcriptomic profile of affected and unaffected skin. We established an RNA-Seq based hidradenitis suppurativa expression disease signature and found it largely concordant with an earlier microarray-based study. We confirmed known aspects of the underlying disease biology including known immune response pathways, differential regulation of antimicrobial peptides, and complement activation. We further characterize the extent of changes in the complement cascade in hidradenitis lesions and highlight a signature that implicates host response to bacteria in disease pathogenesis. Overall design: Patient-derived RNA from lesional and matching perilesional skin biopsies were used to identify an expression-based hidradenitis suppurativa disease signature.

化脓性汗腺炎（Hidradenitis suppurativa）是一类常见且致残的炎症性皮肤病，与免疫失调及毛囊结构、功能异常密切相关。目前针对病变与非病变皮肤的转录组特征解析研究相对匮乏。本研究基于RNA测序（RNA-Seq）构建了化脓性汗腺炎的疾病表达特征谱，并发现其与早期一项基于微阵列（microarray）的研究结果总体契合。我们验证了该疾病潜在生物学机制的多项已知特征，包括已报道的免疫应答通路、抗菌肽的差异调控以及补体激活过程。本研究进一步阐明了化脓性汗腺炎皮损中补体级联反应的变化程度，并着重揭示了一条特征性表达谱，该谱提示宿主对细菌的应答参与了疾病的发病机制。实验整体设计：采集患者皮损及匹配的病灶旁皮肤活检组织的RNA，用于鉴定基于表达特征的化脓性汗腺炎疾病特征谱。