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  • Variant of TYR and Autoimmu...
    Jin, Ying; Birlea, Stanca A; Fain, Pamela R; Gowan, Katherine; Riccardi, Sheri L; Holland, Paulene J; Mailloux, Christina M; Sufit, Alexandra J.D; Hutton, Saunie M; Amadi-Myers, Anita; Bennett, Dorothy C; Wallace, Margaret R; McCormack, Wayne T; Kemp, E. Helen; Gawkrodger, David J; Weetman, Anthony P; Picardo, Mauro; Leone, Giovanni; Taïeb, Alain; Jouary, Thomas; Ezzedine, Khaled; van Geel, Nanny; Lambert, Jo; Overbeck, Andreas; Spritz, Richard A

    The New England journal of medicine, 05/2010, Letnik: 362, Številka: 18
    Journal Article

    The results of a genomewide association study of generalized vitiligo implicate genes involved in the immune response and also a variant of TYR, which encodes tyrosinase. This variant of TYR encodes a protein that seems particularly likely to be detected by immune surveillance. The results of a genomewide association study of generalized vitiligo implicate genes involved in the immune response and also a variant of TYR, which encodes tyrosinase. Generalized vitiligo is a disease in which patchy depigmentation of skin and hair results from autoimmune loss of melanocytes. 1 , 2 It is a complex disorder involving multiple susceptibility genes and unknown environmental triggers. Genetic linkage and candidate-gene association studies have implicated several potentially contributory loci, though few have been consistently supported by the data. 3 Patients with generalized vitiligo have elevated frequencies of other autoimmune diseases, including autoimmune thyroid disease, rheumatoid arthritis, psoriasis, adult-onset type 1 diabetes, pernicious anemia, systemic lupus erythematosus, and Addison's disease, 4 suggesting that these diseases involve shared genetic components. To identify susceptibility loci for generalized vitiligo, we . . .