Association of PTPN22 gene polymorphism with non-segmental vitiligo in South Indian Tamils

INTRODUCTION: Non-segmental vitiligo (NSV) is a depigmentation skin disease with loss of melanocytes in the skin. AIM: To evaluate whether the protein tyrosine phosphatase non-receptor type (PTPN22) single nucleotide polymorphism at +1858C/T had any association with non-segmental vitiligo in South Indian Tamils. MATERIAL AND METHODS: Genomic DNA was extracted using the phenol-chloroform method, and PTPN22 +1858C/T polymorphism was assayed by Taqman 5’allele discrimination assay. Protein levels were quantified by ELISA. RESULTS: 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. PTPN22 levels were higher in the heterozygous CT genotype in NSV, when compared with that of the major variant CC genotype of rs2476601. CONCLUSIONS: This study suggests that the heterozygous CT genotype, of the PTPN22 SNP rs2476601, has a strong risk association with non-segmental vitiligo in South Indian Tamils.