Identification of a novel mutation in the mechanoreceptor-encoding gene CXCR1 in patients with keloid

Keloids are skin fibroproliferative tumors characterized by locally invasive growth of fibroblasts and excessive collagen deposition. The objective of this study is to investigate the molecular basis of the keloid scar by studying the mutation of related genes. We performed gene screening of mechanoreceptors by quantitative polymerase chain reaction (qPCR), Sanger sequencing to detect the CXCR1gene mutation, and immuno-histochemistry to determine CXCR1 protein expression. Among the genes encoding mechanoreceptors, the expression of CXCR1 mRNA was significantly higher in keloid scar tissues than in the surrounding tissues of normal controls (P < 0.05). Sequencing analysis identified a novel missense mutation, c.574G > A (p.Gly192Glu). Immunohistochemistry showed heightened protein expression of CXCR1 in keloid scars as compared to controls. Our findings indicate that CXCR1 gene mutation and altered protein expression are associated with keloid scar development. Identification of the CXCR1 gene mutation might provide insights into the molecular mechanism underlying keloid scar and underscores the potential importance of mechanoreceptors in keloid scar pathogenesis. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (10.1007/s00403-018-1847-3) contains supplementary material, which is available to authorized users.