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

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Details zur Publikation

Autor(en): Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, Holland PJ, Birlea SA, Siebert J, Hartmann A, Lienert AM, Van Geel N, Lambert J, Luiten RM, Wolkerstorfer A, Van Der Veen JPW, Bennett DC, Taieb A, Ezzedine K, Kemp EH, 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, Boehm M, Lim HW, Hamzavi I, Zhou L, Mi QS, Fain PR, Santorico SA, Spritz RA
Zeitschrift: Nature Genetics
Jahr der Veröffentlichung: 2016
Band: 48
Heftnummer: 11
Seitenbereich: 1418-1424
ISSN: 1061-4036


Abstract

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.


FAU-Autoren / FAU-Herausgeber

Hartmann, Arndt Prof. Dr. med.
Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie
Lienert, Anne-Marie Dr. med.
Hautklinik


Autor(en) der externen Einrichtung(en)
Centre Hospitalier Universitaire de Bordeaux / CHU Bordeaux
Columbia University
CytoAnalytics Inc.
Henry Ford Health System (HFHS)
International Vitiligo Center
Lumiderm
San Gallicano Dermatological Institute, IRCCS (ISG)
St George's, University of London (SGUL) / St George's Hospital Medical School
Università degli Studi di Firenze / University of Florence
University Hospital Ghent
University of Amsterdam
University of Colorado System
University of Florida
University of Sheffield
University of Tartu
Vitiligo Research Foundation
Westfälische Wilhelms-Universität (WWU) Münster


Zitierweisen

APA:
Jin, Y., Andersen, G., Yorgov, D., Ferrara, T.M., Ben, S., Brownson, K.M.,... Spritz, R.A. (2016). Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nature Genetics, 48(11), 1418-1424. https://dx.doi.org/10.1038/ng.3680

MLA:
Jin, Ying, et al. "Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants." Nature Genetics 48.11 (2016): 1418-1424.

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Zuletzt aktualisiert 2018-05-10 um 07:21