Psoriasis, a diverse group of immune-mediated skin conditions, encompasses various clinical forms, including psoriasis vulgaris and pustular variants. While much research has focused on psoriasis vulgaris, recent findings suggest that different phenotypes may possess distinct immunogenetic profiles. Over 40 genomic regions associated with psoriasis susceptibility have been identified through genome-wide and targeted association studies. These susceptibility loci, rich in candidate causal genes, highlight the involvement of adaptive and innate immunity, as well as skin barrier functions, in disease development. Despite significant progress, genetic studies have only explained less than a quarter of psoriasis heritability, suggesting that factors like genetic variants with modest effects and epigenetic mechanisms contribute to the remaining heritability. Integrating detailed phenotype data with genetics holds promise for better disease classification, facilitating the development of diagnostic tools, prognostic markers, and more effective targeted therapies.
Reference: Mahil SK, Capon F, Barker JN. Genetics of psoriasis. Dermatol Clin. 2015 Jan;33(1):1-11. doi: 10.1016/j.det.2014.09.001. PMID: 25412779.