Whole exome sequencing in pityriasis rubra pilaris identifies rare mutations in KRT32 (human)
Release date:
2023-12-31
Description:
Pityriasis rubra pilaris (PRP) is an inflammatory papulosquamous dermatosis, characterized by hyperkeratotic follicular papules and erythematous desquamative plaques. The precise pathogenic mechanism underlying PRP remains incompletely understood. Herein, we performed the whole-exome sequencing (WES) on 58 patients with PRP and 364 healthy controls to investigate the genetic basis underlying the PRP. Our findings revealed a significant association between PRP and the Keratin 32 gene (KRT32), which exerts an inhibitory effect on inflammatory signaling pathways by modulating the NF- kappaB signaling pathway and IL-1 signaling axis, forming a complex regulatory network. This finding offers valuable insights into the underlying etiology and pathomechanisms of PRP.
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Organization: Shandong Provincial Hospital for Skin Diseases & Shandong Provincial Institute of Dermatology and Veneorology, Shandong First Medical University & Shandong Academy of Medical Sciences
Submission date: 2023-08-11
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HRA005276.xlsx