Table 1.
Demographic characteristics of the hidradenitis suppurativa 20 patient cohort.
Fig 1.
Overview of the current dataset, differential expression analysis, and comparison to microarray-based study.
1,430 protein coding genes were identified as being differentially expressed when comparing lesion and non-lesion samples. The heatmap shows the gene expression patterns (rows) for each individual patient sample (columns).
Fig 2.
Pathway enrichment analysis and exploration of disease biology.
Pathway analysis was performed to characterize the underlying molecular mechanisms driving the observed differences in expression. Antimicrobial peptide DEFB4A was significantly increased in the lesion samples while DCD expression was significantly decreased (C). Upregulated pathways include both adaptive and innate immune response as well as response to bacterium, Th-17, TNF-alpha, and IL-1beta mediated pathways, neutrophil and lymphocyte activation and ECM remodeling. Keratinization and intermediate filament were among the down-regulated pathways (B). Key genes that are part of specific pathways known to be involved in HS disease biology are generally upregulated in lesion samples (C).
Fig 3.
Joint re-analysis of HS skin bulk RNA transcriptomics datasets and comparison to the current study.
118 protein coding genes were identified as being consistently differentially expressed when comparing lesion and non-lesion samples across HS cohorts and platforms (A). The heatmap shows the gene expression patterns (rows) for each individual patient sample in the current study and average fold changes for the previously published datasets (columns). The consistent patterns across studies suggests overall relatively high concordance between cohorts. Log2 fold change estimates in the current and previously published studies for select genes in the HS disease signature are shown for individual cohorts (B). The dashed lines represent two fold differences in either direction, blue and red dots represent significance levels, and purple dots and lines represent range and average fold changes. Even though fold changes and p-values vary considerably, it is clear that this panel is consistently dysregulated in HS.
Table 2.
Molecular pathways enriched in HS disease signature derived by re-analysis of existing transcriptomic data sets.