Evaluation of polymorphisms and expression of PTPN22 , NLRP1 and TYR genes in vitiligo patients

Vitiligo is a pigmentary disorder associated with a selective loss of melanocytes in the skin, its appendages and mucous membranes. The aim of the study was to evaluate the association between the rs2476601 polymorphism of the gene, the rs2670660 and rs6502867 polymorphisms of the gene and the rs1847134 and rs1393350 polymorphisms of the gene and vitiligo. Another aim was to compare the gene expression in lesional and symmetrically non-lesional skin of vitiligo patients and healthy controls. The experimental group consisted of 42 patients and the control group consisted of 38 healthy volunteers. The polymorphisms of the genes were assessed with PCR-RFLP technique and gene expression with qRT-PCR technique. We found that the CT genotype of the rs2476601 polymorphism is more frequent in vitiligo patients, in the case of the rs2670660 polymorphism it was the AG genotype, in the rs6502867 polymorphism they were the CT and CC genotypes and in the rs1393350 polymorphism it was the AG genotype. There was no association between vitiligo and the rs1847134 polymorphism. We found statistically significant differences in gene expression in the lesional and symmetrical non-lesional skin of vitiligo patients compared to the control group. Our analysis showed genotypes predisposing to vitiligo. We found that the gene expression is different not only in lesional but also in non-lesional skin of vitiligo patients, what may change the approach to treatment of the disease.