Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo

• Published in: The New England journal of medicine Vol. 362; no. 18; pp. 1686 - 1697
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Waltham, MA Massachusetts Medical Society 06-05-2010
• Subjects: Autoimmune diseases; Autoimmune Diseases - genetics; Biological and medical sciences; Dermatology; General aspects; Genetic Markers; Genetic Predisposition to Disease; Genetics; Genome-Wide Association Study; Genotype; Humans; Major Histocompatibility Complex - genetics; Medical sciences; Melanoma - genetics; Monophenol Monooxygenase - genetics; Pigmentary diseases of the skin; Polymorphism, Single Nucleotide; Rheumatoid arthritis; Thyroid diseases; Vitiligo; Vitiligo - genetics; Vitiligo - immunology; Autoimmunity; Medicine; Variant; Skin disease; Sensitivity; Vitiligo; Pigmentation disorder; Genetic variability; Predisposition; Genotype; Generalized
• ISSN: 0028-4793; 1533-4406
• DOI: 10.1056/NEJMoa0908547

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 . . .