Jin, Y;
Bennett, DC;
Spritz, RA;
Andersen, G;
Yorgov, D;
Ferrara, TM;
Ben, S;
Brownson, KM;
Holland, PJ;
Birlea, SA;
et al.
Jin, Y; Bennett, DC; Spritz, RA; Andersen, G; Yorgov, D; Ferrara, TM; Ben, S; Brownson, KM; Holland, PJ; Birlea, SA; Siebert, J; Hartmann, A; Lienert, A; van Geel, N; Lambert, J; Luiten, RM; Wolkerstorfer, A; Wietze van der Veen, JP; Taïeb, A; Ezzedine, K; Helen Kemp, E; Gawkrodger, DJ; Weetman, AP; Koks, S; Prans, E; Kingo, K; Karelson, M; Wallace, MR; McCormack, WT; Overbeck, A; Moretti, S; Colucci, R; Picardo, M; Silverberg, NB; Olsson, M; Valle, Y; Korobko, I; Bohms, M; Lim, HW; Hamzavi, I; Zhou, L; Mi, QS; Fain, PR; Santorico, SA
(2016)
Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
Nature Genetics, 48 (11).
pp. 1418-1424.
ISSN 1546-1718
https://doi.org/10.1038/ng.3680
SGUL Authors: Bennett, Dorothy Catherine
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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.
Item Type: | Article | |||||||||||||||
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Additional Information: | © Nature America, Inc. All rights reserved. | |||||||||||||||
Keywords: | Developmental Biology, 11 Medical And Health Sciences, 06 Biological Sciences | |||||||||||||||
SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS) |
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Journal or Publication Title: | Nature Genetics | |||||||||||||||
ISSN: | 1546-1718 | |||||||||||||||
Publisher License: | Publisher's own licence | |||||||||||||||
Projects: |
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URI: | https://openaccess.sgul.ac.uk/id/eprint/108278 | |||||||||||||||
Publisher's version: | https://doi.org/10.1038/ng.3680 |
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