Association of FOXP3 and GAGE10 promoter polymorphisms and decreased FOXP3 expression in regulatory T cells with susceptibility to generalized vitiligo in Gujarat population.

Alterations in regulatory T (Treg) cells have been observed in generalized vitiligo (GV) patients and decreased Forkhead Box P3 (FOXP3) has been implicated in the disease pathogenesis. The present study examined FOXP3 rs3761547(A > G), rs3761548(C > A), rs2232365(A > G) and GAGE10 rs11798415(A > T) promoter single nucleotide polymorphisms (SNPs) in 419 GV patients and 429 controls from Gujarat population using PCR-RFLP and ARMS-PCR. Real-time PCR and flow cytometry were used for assessment of FOXP3 mRNA and protein levels respectively in 96 GV patients and 90 controls. The frequency of genotypes (p   G) and rs11798415(A > T) SNPs significantly differed between GV patients and controls. FOXP3 mRNA and protein levels were significantly decreased (p   G) & GAGE10 rs11798415(A > T) SNPs with susceptibility to GV in Gujarat population. In addition, the likely role of these SNPs in altered FOXP3 expression of Tregs may possibly affect Treg suppressive function in GV.