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

Y. Jin; G. Andersen; D. Yorgov; T.M. Ferrara; S. Ben; K.M. Brownson; P.J. Holland; S.A. Birlea; J. Siebert; A. Hartmann; A. Lienert; N. van Geel; J. Lambert; R.M. Luiten; A. Wolkerstorfer; J.P. Wietze van der Veen; D.C. Bennett; A. Taïeb; K. Ezzedine; E.H. Kemp; D.J. Gawkrodger; A.P. Weetman; S. Kõks; E. Prans; K. Kingo; M. Karelson; M.R. Wallace; W.T. McCormack; A. Overbeck; S. Moretti; R. Colucci; M. Picardo; N.B. Silverberg; M. Olsson; Y. Valle; I. Korobko; M. Bohm; H.W. Lim; I. Hamzavi; L. Zhou; Q-S Mi; P.R. Fain; S.A. Santorico; R.A. Spritz

doi:10.1038/ng.3680

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

Journal article

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

Y. Jin, G. Andersen, D. Yorgov, T.M. Ferrara, S. Ben, K.M. Brownson, P.J. Holland, S.A. Birlea, J. Siebert, A. Hartmann, …

Nature Genetics, Vol.48(11), pp.1418-1424

2016

DOI: https://doi.org/10.1038/ng.3680

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Abstract

Vitiligo is an autoimmune disease in which depigmented skin results from the destruction of melanocytes1, with epidemiological association with other autoimmune diseases2. 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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Title: Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants
Authors/Creators: Y. Jin (Author/Creator) - University of Colorado Denver
G. Andersen (Author/Creator)
D. Yorgov (Author/Creator) - University of Colorado Denver
T.M. Ferrara (Author/Creator) - University of Colorado Denver
S. Ben (Author/Creator) - University of Colorado Denver
K.M. Brownson (Author/Creator) - University of Colorado Denver
P.J. Holland (Author/Creator) - University of Colorado Denver
S.A. Birlea (Author/Creator) - University of Colorado Denver
J. Siebert (Author/Creator) - ThermoAnalytics (United States)
A. Hartmann (Author/Creator) - Department of Dermatology University Hospital Erlangen Erlangen Germany
A. Lienert (Author/Creator) - Department of Dermatology University Hospital Erlangen Erlangen Germany
N. van Geel (Author/Creator) - Ghent University Hospital
J. Lambert (Author/Creator) - Ghent University Hospital
R.M. Luiten (Author/Creator) - University of Amsterdam
A. Wolkerstorfer (Author/Creator) - University of Amsterdam
J.P. Wietze van der Veen (Author/Creator)
D.C. Bennett (Author/Creator) - St George's, University of London
A. Taïeb (Author/Creator) - Hôpital Saint-André
K. Ezzedine (Author/Creator) - Hôpital Saint-André
E.H. Kemp (Author/Creator) - University of Sheffield
D.J. Gawkrodger (Author/Creator) - University of Sheffield
A.P. Weetman (Author/Creator) - University of Sheffield
S. Kõks (Author/Creator) - University of Tartu
E. Prans (Author/Creator) - University of Tartu
K. Kingo (Author/Creator) - University of Tartu
M. Karelson (Author/Creator) - University of Tartu
M.R. Wallace (Author/Creator) - University of Florida
W.T. McCormack (Author/Creator) - Department of Pathology, Immunology and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida, USA
A. Overbeck (Author/Creator) - Lumiderm, Madrid, Spain.
S. Moretti (Author/Creator) - University of Florence
R. Colucci (Author/Creator) - University of Florence
M. Picardo (Author/Creator) - San Gallicano Hospital
N.B. Silverberg (Author/Creator) - Columbia University
M. Olsson (Author/Creator) - International Vitiligo Center, Uppsala, Sweden.
Y. Valle (Author/Creator) - Vitiligo Research Foundation, New York, New York, USA.
I. Korobko (Author/Creator) - Institute of Gene Biology
M. Bohm (Author/Creator) - University of Münster
H.W. Lim (Author/Creator) - Henry Ford Hospital
I. Hamzavi (Author/Creator) - Henry Ford Hospital
L. Zhou (Author/Creator) - Henry Ford Hospital
Q-S Mi (Author/Creator) - Henry Ford Hospital
P.R. Fain (Author/Creator) - University of Colorado Denver
S.A. Santorico (Author/Creator) - Colorado School of Public Health
R.A. Spritz (Author/Creator) - University of Colorado Denver
Publication Details: Nature Genetics, Vol.48(11), pp.1418-1424
Publisher: Nature Publishing Group
Identifiers: 991005543447007891
Copyright: © 2019 Springer Nature Limited
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.158 Dermatology - General; 1.158.918 Melanogenesis Mechanisms
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics