Researchers of a recent study explored the genetic basis of psoriasis in an eastern Indian population, analyzing the relationship between forty single nucleotide polymorphisms (SNPs) and the disease among 2136 individuals. It identified fifteen SNPs significantly associated with psoriasis, with three more linked to patients with the HLA-Cw6 allele, a known genetic marker. The research highlighted complex genetic interactions, particularly between the HLA-Cw6 allele and loci within the PSORS1 region, and observed differential gene expression between psoriatic and normal skin that wasn’t evident when grouping by genotype.

Further insights from the study revealed functional effects of these genetic variations, such as the downregulation of the SPATA2 gene in patients with the HLA-Cw6 allele and risk genotypes, and decreased protein stability caused by susceptible coding variants. These findings emphasize the significance of tailored genetic research in understanding and treating psoriasis, suggesting that specific genetic markers like SNPs in the SPATA2 gene may influence disease risk and severity.

Reference: Das S, Chandra A, Das A, Senapati S, Chatterjee G, Chatterjee R. Identifying the genetic associations among the psoriasis patients in eastern India. J Hum Genet. 2024 May;69(5):205-213. doi: 10.1038/s10038-024-01227-8. Epub 2024 Feb 27. PMID: 38409498.