Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants


Y Jin, University of Colorado
G Andersen, University of Colorado
Daniel Yorgov, Indiana University - Purdue University Fort WayneFollow
T M. Ferrara, University of Colorado
S Ben, University of Colorado
K M. Brownson, University of Colorado
P J. Holland, University of Colorado
S A. Birlea, University of Colorado
J Siebert, CytoAnalytics
A Hartmann, University Hospital Erlangen
A Lienert, University Hospital Erlangen
N Van Geel, Ghent University Hospital
J Lambert, Ghent University Hospital
R M. Luiten, University of Amsterdam
A Wolkerstorfer, University of Amsterdam
J P. Wietze Van Der Veen, University of Amsterdam
D C. Bennett, University of London
A Taieb, Hôpital St.-André
K Ezzedine, Hôpital St.-André
E H. Kemp, University of Sheffield
D J. Gawkrodger, University of Sheffield
A P. Weetman, University of Sheffield
S Koks, University of Tartu
E Prans, University of Tartu
K Kingo, University of Tartu
M Karelson, University of Tartu
M R. Wallace, University of Florida
W T. McCormack, University of Florida
A Overbeck, Lumiderm
S Moretti, University of Florence
R Colucci, University of Florence
M Picardo, Istituto Dermatologico San Gallicano
N B. Silverberg, Columbia University
M Olsson, International Vitiligo Center
Y Valle, Vitiligo Research Foundation
I Korobko, Vitiligo Research Foundation
M Bohm, University of Münster
H W. Lim, Henry Ford Hospital
I Hamzavi, Henry Ford Hospital
L Zhou, Henry Ford Hospital
Q S. Mi, Henry Ford Hospital
P R. Fain, University of Colorado
S A. Santorico, University of Colorado
R A. Spritz, University of Colorado

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Nature Genetics





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Nature Publishing Group



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Vitiligo is an autoimmune disease in which depigmented skin results from the destruction of melanocytes, with epidemiological association with other autoimmune diseases. In previous linkage and genome-wide association studies (GWAS1 and GWAS2), we identified 27 vitiligo susceptibility loci in patients of European ancestry. We carried out a third GWAS (GWAS3) in European-ancestry subjects, with augmented GWAS1 and GWAS2 controls, genome-wide imputation, and meta-analysis of all three GWAS, followed by an independent replication. The combined analyses, with 4,680 cases and 39,586 controls, identified 23 new significantly associated loci and 7 suggestive loci. Most encode immune and apoptotic regulators, with some also associated with other autoimmune diseases, as well as several melanocyte regulators. Bioinformatic analyses indicate a predominance of causal regulatory variation, some of which corresponds to expression quantitative trait loci (eQTLs) at these loci. Together, the identified genes provide a framework for the genetic architecture and pathobiology of vitiligo, highlight relationships with other autoimmune diseases and melanoma, and offer potential targets for treatment.



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