Genomic and proteomic insights into hidradenitis suppurativa - PubMed
4 days ago
- #hidradenitis suppurativa
- #GWAS
- #proteomics
- Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with significant heritability and clinical heterogeneity.
- The study used a Greek cohort of 314 HS patients and 81 matched healthy controls for genomic and proteomic analysis.
- GWAS meta-analysis with FinnGen identified 60 genome-wide significant loci, including novel variants near HLA-DRA.
- Proteomic profiling revealed 51 differentially expressed proteins (DEPs), with IL-6, IL-17A, and FGF21 correlating with disease severity.
- Integration with pQTL data showed enrichment of HS-associated SNPs among pQTLs regulating DEPs, indicating a genetic basis for systemic inflammation.
- The findings suggest HS pathogenesis involves both epithelial dysfunction and systemic inflammation, with potential autoimmune and autoinflammatory components.
- The study highlights the importance of genetic and inflammatory markers in understanding HS and developing targeted treatments.