Editors' ChoiceVitiligo

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Science Translational Medicine  19 May 2010:
Vol. 2, Issue 32, pp. 32ec80
DOI: 10.1126/scitranslmed.3001277

Although not always fatal, disfiguring diseases can be life-altering. It was rumored that pop icon Michael Jackson began sporting his signature sequin glove as a way to hide his developing vitiligo, which is a depigmentation disease characterized by the loss of melanocytes—pigment (melanin)–producing cells in the skin, eyes, and hair. Vitiligo manifests as white patches in the skin, hair, retina, and mucous membranes and affects approximately 1% of the U.S. population. Scientists have hypothesized that the disease has a genetic component and results from an autoimmune reaction that destroys melanocytes. In a recent article by Jin et al., the authors performed a genome-wide association study to locate genetic susceptibility loci for vitiligo.

The authors examined more than 500,000 single-nucleotide polymorphisms (SNPs)—nucleotide variations within the DNA of different members of the same species—in 1392 patients with generalized vitiligo and 2629 genetically matched controls. Strong associations with vitiligo were identified for SNPs at loci associated with immune responses, including major histocompatibility complex (MHC) class I and class II genes and the genes encoding the lymphoid-specific protein tyrosine phosphatase nonreceptor type 22 (PTPN22), the interleukin-2 receptor alpha chain (IL2RA), the ubiquitin-associated and SH3 domain–containing protein A (UBASH3A), and the arginine-glutamic acid dipeptide repeats protein (RERE). In addition, a strong association was apparent between vitiligo and SNPs in the TRY gene locus, which encodes tyrosinase, an enzyme that is critical in melanin pigment synthesis and thus a potential immune target antigen in vitiligo. Overall, the authors found 10 independent susceptibility loci for vitiligo, many of which have been implicated in autoimmune disease. These associations were independently tested in two populations: a separate case-control set (unrelated generalized vitiligo and control populations) and a family-based set (cohorts of simplex trios and multiplex families). In general, the majority of associations held true. These results suggest that vitiligo shares genetic susceptibility loci with other autoimmune diseases and appears to be linked to immune-mediating factors. Of note, the TYR variant present in vitiligo appears distinct from the TYR variant present in melanoma patients, suggesting a mutually exclusive relationship between these two disease processes.

Y. Jin et al., Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N. Engl. J. Med. 362, 1686–1697 (2010). [Abstract]

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