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Abstract Background: Vitiligo is an autoimmune depigmentation disorder, commonly associated with systemic autoimmune diseases. Recently, a connection between some autoimmune diseases and vitamin D deficiency has been reported, and vitamin D deficiency was suggested to act as an environmental trigger for the induction of autoimmunity. Genetic variations within the vitamin D receptor (VDR) gene could lead to significant receptor dysfunction, as polymorphisms in the VDR have been found to be associated with many autoimmune diseases, including vitiligo. Our study was undertaken to evaluate the potential association between three vitamin D receptor gene polymorphisms (ApaI, TaqI and FokI) and vitiligo susceptibility, also to detect if there is correlation between serum 25-hydroxyvitamin D level and different clinical types of vitiligo and to detect if there is correlation between vitamin D receptor gene polymorphisms and 25- hydroxyvitamin D level in different clinical types of vitiligo. Results: Our results showed that serum level of 25-OH vitamin D is significantly lower in patients than controls (p value < 0.000). We found that the ApaI variant (a) allele frequency was significantly higher among the vitiligo cases than controls (p = 0.004) and the frequency of the variant genotype (aa) was significantly higher among cases than controls (p = 0.001). Whereas the (AA) and (Aa) genotypes were not significantly associated with vitiligo (p = 0.079 & p =.163, respectively). We also found that the frequency of the variant genotype (tt) was significantly higher among cases than controls (p = 0.017), whereas the (Tt) was significantly lower among cases than among the controls (p = 0.048), whereas the (TT) genotype was not significantly associated with vitiligo (p = 0.303) and there was no evidence that the TaqI variant (t) allele was associated with susceptibility to vitiligo (p = 0.718). Our study also showed that there was no evidence that the FokI variant (f) allele was associated with susceptibility to vitiligo (p = 0.248), also the (FF), (Ff) and (ff) genotypes were not associated with a significantly increased or decreased vitiligo risk (p = 0.155, p = 0.193 & p = 0.500, respectively) |