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Background   MYG1  ( Melanocyte proliferating gene 1 , also C12orf10 in human) is a ubiquitous nucleo-mitochondrial protein, involved in early developmental processes and in adult stress/illness conditions. We recently showed that  MYG1  mRNA expression is elevated in the skin of vitiligo patients. Our aim was to examine nine known polymorphisms in the  MYG1  gene, to investigate their functionality, and to study their association with vitiligo susceptibility.    Methods  Nine single nucleotide polymorphisms (SNPs) in the  MYG1  locus were investigated by SNPlex assay and/or sequencing in vitiligo patients (n = 124) and controls (n = 325).  MYG1  expression in skin biopsies was detected by quantitative-real time PCR (Q-RT-PCR) and polymorphisms were further analysed using luciferase and YFP reporters in the cell culture.    Results  Control subjects with -119G promoter allele (rs1465073) exhibited significantly higher  MYG1  mRNA levels than controls with -119C allele ( P  = 0.01). Higher activity of -119G promoter was confirmed by luciferase assay. Single marker association analysis showed that the -119G allele was more frequent in vitiligo patients (47.1%) compared to controls (39.3%,  P  < 0.05, OR 1.37, 95%CI 1.02-1.85). Analysis based on the stage of progression of the vitiligo revealed that the increased frequency of -119G allele occurred prevalently in the group of patients with active vitiligo (n = 86) compared to the control group (48.2%  versus  39.3%,  P  < 0.05; OR 1.44, 95%CI 1.02-2.03). Additionally, we showed that glutamine in the fourth position (in Arg4Gln polymorphism) completely eliminated mitochondrial entrance of YFP-tagged Myg1 protein in cell culture. The analysis of available EST, cDNA and genomic DNA sequences revealed that Myg1 4Gln allele is remarkably present in human populations but is never detected in homozygous state according to the HapMap database.    Conclusions  Our study demonstrated that both  MYG1  promoter polymorphism -119C/G and Arg4Gln polymorphism in the mitochondrial signal of Myg1 have a functional impact on the regulation of the  MYG1  gene and promoter polymorphism (-119C/G) is related with suspectibility for actively progressing vitiligo.

Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1