Abstract
Psoriasis is a chronic and immune-mediated inflammatory skin disorder associated with complex genetic susceptibility. Studies focused on the immunological mechanism have revealed innate and adaptive immune activation in psoriatic lesions, including large numbers of immune cells activated to produce many cytokines, chemokines, and other inflammatory molecules. Knowledge on the genetic basis of psoriasis highlights genetic susceptibility factors that play a crucial role in regulation of immunity, epidermal proliferation, and skin barrier formation. Genetic susceptibility factors affecting both the immune system and epidermis could predispose to disease. Herein, we review the current knowledge on the role of genetic and immunological factors in the development of psoriasis.
Highlights
Psoriasis (MIM *177900) is a common, chronic, and immunologically mediated inflammatory skin disease that affects individuals at rates varying from 0.5% to 4.6% across diverse ethnic populations (Lebwohl 2003)
In genome-wide association studies (GWAS) findings of both European and Chinese populations, different single nucleotide polymorphisms (SNPs) alleles associated with psoriasis in and upstream of the IL12B gene and the IL23R gene have been identified, confirming the role of the IL-23/T-helper 17 (Th17) axis in psoriasis pathogenesis (Cargill et al 2007; Nair et al 2009; Zhang et al 2009)
A large-scale sequencing analysis of functional coding variants was performed to investigate the contribution of functional coding variants to the genetic susceptibility of psoriasis in a Han Chinese population, identifying seven common and low-frequency nonsynonymous variants within known psoriasis susceptibility genes, including IL23R, GJB2, LCE3D, endoplasmic reticulum aminopeptidase 1 (ERAP1), CARD14, and ZNF816A, that are associated with psoriasis risk (Tang et al 2013)
Summary
Psoriasis (MIM *177900) is a common, chronic, and immunologically mediated inflammatory skin disease that affects individuals at rates varying from 0.5% to 4.6% across diverse ethnic populations (Lebwohl 2003). We detail the recent advances in the understanding of psoriasis pathogenesis, including the information regarding immunological factors, genetic aspects, and susceptibility genes shared with other autoimmune or inflammatory diseases.
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