Literature DB >> 20410501

Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.

Ying Jin1, Stanca A Birlea, Pamela R Fain, Katherine Gowan, Sheri L Riccardi, Paulene J Holland, Christina M Mailloux, Alexandra J D Sufit, Saunie M Hutton, Anita Amadi-Myers, Dorothy C Bennett, Margaret R Wallace, Wayne T McCormack, E Helen Kemp, David J Gawkrodger, Anthony P Weetman, Mauro Picardo, Giovanni Leone, Alain Taïeb, Thomas Jouary, Khaled Ezzedine, Nanny van Geel, Jo Lambert, Andreas Overbeck, Richard A Spritz.   

Abstract

BACKGROUND: Generalized vitiligo is an autoimmune disease characterized by melanocyte loss, which results in patchy depigmentation of skin and hair, and is associated with an elevated risk of other autoimmune diseases.
METHODS: To identify generalized vitiligo susceptibility loci, we conducted a genomewide association study. We genotyped 579,146 single-nucleotide polymorphisms (SNPs) in 1514 patients with generalized vitiligo who were of European-derived white (CEU) ancestry and compared the genotypes with publicly available control genotypes from 2813 CEU persons. We then tested 50 SNPs in two replication sets, one comprising 677 independent CEU patients and 1106 CEU controls and the other comprising 183 CEU simplex trios with generalized vitiligo and 332 CEU multiplex families.
RESULTS: We detected significant associations between generalized vitiligo and SNPs at several loci previously associated with other autoimmune diseases. These included genes encoding major-histocompatibility-complex class I molecules (P=9.05x10(-23)) and class II molecules (P=4.50x10(-34)), PTPN22 (P=1.31x10(-7)), LPP (P=1.01x10(-11)), IL2RA (P=2.78x10(-9)), UBASH3A (P=1.26x10(-9)), and C1QTNF6 (P=2.21x10(-16)). We also detected associations between generalized vitiligo and SNPs in two additional immune-related loci, RERE (P=7.07x10(-15)) and GZMB (P=3.44x10(-8)), and in a locus containing TYR (P=1.60x10(-18)), encoding tyrosinase.
CONCLUSIONS: We observed associations between generalized vitiligo and markers implicating multiple genes, some associated with other autoimmune diseases and one (TYR) that may mediate target-cell specificity and indicate a mutually exclusive relationship between susceptibility to vitiligo and susceptibility to melanoma. 2010 Massachusetts Medical Society

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Year:  2010        PMID: 20410501      PMCID: PMC2891985          DOI: 10.1056/NEJMoa0908547

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  132 in total

1.  Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.

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4.  Oxidative stress-induced overexpression of miR-25: the mechanism underlying the degeneration of melanocytes in vitiligo.

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9.  Heme oxygenase-1 expression protects melanocytes from stress-induced cell death: implications for vitiligo.

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10.  Systemic analyses of immunophenotypes of peripheral T cells in non-segmental vitiligo: implication of defective natural killer T cells.

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