Identifying the genetic associations among the psoriasis patients in eastern India

AbstractPsoriasis is a multifactorial genetic disorder manifested by hyperproliferation and abnormal differentiation of epidermal keratinocytes, along with the infiltration of inflammatory cells into the skin. Although ~80 genetic susceptibility variants were reported in psoriasis, many loci showed population-specific associations, warranting the need for more population-specific association studies in psoriasis. We determined the association of forty single nucleotide polymorphisms (SNPs) among 2136 psoriasis patients and normal individuals from eastern India. We investigated the expression of corresponding genes and evaluated the protein structure stability for the genes with susceptible coding variants. We found fifteen SNPs significantly associated with psoriasis, while additional three SNPs showed significant association when we classified the patients based on the presence ofHLA-Cw6 allele. Epistatic interaction betweenHLA-Cw6 and other associated loci showed significant association with the SNPs at PSORS1 region, along with other five SNPs outside PSORS1. Three genes showed significant differential expression in psoriatic tissues compared to the adjacent normal skin tissues but were not differential when classified the patients based on their genotypes. SNP rs495337 atSPATA2 (Spermatogenesis Associated 2) showed a 1.2-fold increased risk among theHLA-Cw6 patients compared to combined samples. We found significant downregulation ofSPATA2 among the patients with risk gen...
Source: Journal of Human Genetics - Category: Genetics & Stem Cells Source Type: research