1320 Keloid transcriptome analysis: ZNF469 more than meets the eye

Keloids are disfiguring, inflammatory fibroproliferative growths that expand beyond the borders of cutaneous insults. To elucidate regulatory mechanisms in keloid pathogenesis, we performed transcriptional profiling biopsies from keloids as well adjacent non-lesional (NL) skin on African-American participants (n=3). We identified 344 differentially expressed genes (DEGs) between and normal -- 218 upregulated 126 downregulated (fold change >3, false discovery rate <0.05). There was enrichment for involved extracellular matrix organization bone/cartilage development. Eleven aberrantly putative transcriptions factors were identified, among them ZNF469 had a fold approximately 23 (P-value=0.00005), comparable to collagen genes. encodes zinc-finger protein which seems function transcription factor or extra-nuclear regulator several components,. Biallelic pathogenic variants this gene cause Brittle Cornea Syndrome (BCS), characterized by corneal thinning, fragility rupture. Non-ocular symptoms disorder include connective tissue fragility, placing it spectrum heritable disorders such Ehlers-Danlos syndrome, osteogenesis imperfecta Marfan syndrome. Quantitative RT-PCR immunohistochemistry staining performed, confirmed increased expression compared NL skin. Our data also demonstrated is localized cytoplasm hence, may an components. Additionally, immunofluorescence (IF) verified cells positive both vimentin keloids, while IF negative findings confirm suggest its dysregulation plays important role pathogenesis biology.