We found that the allelic frequency of variants of PTPN22 (rs2476601) were significantly different between controls and cases showing a vitiligo risk in the South Indian Tamil population.
Meta-analysis of the PTPN221858 C/T polymorphism showed an association between the PTPN22 T allele and vitiligo in all subjects (OR = 1.507, 95 % CI = 1.320-1.720, p < 1.0 × 10(-8)) and in European group (OR = 1.530, 95 % CI = 1.339-1.748, p < 1.0 × 10(-8)), but not in Asians (OR = 0.482, 95 % CI = 0.152-1.530, p = 0.216).
In this study, we investigated vitiligo patients in Jordan for patient characteristics and analyzed the association of the 1858C/T (rs2476601, rs2476601" genes_norm="26191">R620W) variant of the PTPN22 gene with vitiligo in our patients.
Our results provide evidence that the PTPN22 1858T allele contributes to risk of generalized vitiligo in European Caucasian populations, and underscores the importance of a genetically mediated autoimmune mechanism in the pathogenesis of vitiligo.
Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo.
The minor allele of the rs2476601" genes_norm="26191">R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo.
The objective of this study was to ascertain if the disease-associated 1858T allele was also associated with generalised (nonsegmental) vitiligo and so the frequencies of the PTPN221858C/T alleles were investigated in 165 English patients with generalised vitiligo and 304 ethnically matched control subjects.