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

Ying Jin, Genevieve Andersen, Daniel Yorgov, Tracey M Ferrara, Songtao Ben, Kelly M Brownson, Paulene J Holland, Stanca A Birlea, Janet Siebert, Anke Hartmann, et al. (2016) NATURE GENETICS. 48(11). p.1418-1424
abstract
Vitiligo is an autoimmune disease in which depigmented skin results from the destruction of melanocytesl, with epidemiological association with other autoimmune diseases(2). 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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
SYSTEMIC-LUPUS-ERYTHEMATOSUS, NONMELANOMA SKIN-CANCER, GENERALIZED VITILIGO, SUSCEPTIBILITY LOCI, COMMON VARIANTS, PARTITIONING HERITABILITY, RHEUMATOID-ARTHRITIS, HAN CHINESE, GRANZYME-B, IN-VIVO
journal title
NATURE GENETICS
Nature Genet.
volume
48
issue
11
pages
1418 - 1424
Web of Science type
Article
Web of Science id
000386543400019
JCR category
GENETICS & HEREDITY
JCR impact factor
27.959 (2016)
JCR rank
2/166 (2016)
JCR quartile
1 (2016)
ISSN
1061-4036
1546-1718
DOI
10.1038/ng.3680
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8525068
handle
http://hdl.handle.net/1854/LU-8525068
date created
2017-06-26 10:59:31
date last changed
2017-07-13 07:58:02
@article{8525068,
  abstract     = {Vitiligo is an autoimmune disease in which depigmented skin results from the destruction of melanocytesl, with epidemiological association with other autoimmune diseases(2). 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.},
  author       = {Jin, Ying and Andersen, Genevieve and Yorgov, Daniel and Ferrara, Tracey M and Ben, Songtao and Brownson, Kelly M and Holland, Paulene J and Birlea, Stanca A and Siebert, Janet and Hartmann, Anke and Lienert, Anne and van Geel, Nanja and Lambert, Jo and Luiten, Rosalie M and Wolkerstorfer, Albert and van der Veen, JP Wietze and Bennett, Dorothy C and Ta{\"i}eb, Alain and Ezzedine, Khaled and Kemp, E Helen and Gawkrodger, David J and Weetman, Anthony P and K{\~o}ks, Sulev and Prans, Ele and Kingo, K{\"u}lli and Karelson, Maire and Wallace, Margaret R and McCormack, Wayne T and Overbeck, Andreas and Moretti, Silvia and Colucci, Roberta and Picardo, Mauro and Silverberg, Nanette B and Olsson, Mats and Valle, Yan and Korobko, Igor and B{\"o}hm, Markus and Lim, Henry W and Hamzavi, Iltefat and Zhou, Li and Mi, Qing-Sheng and Fain, Pamela R and Santorico, Stephanie A and Spritz, Richard A},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keyword      = {SYSTEMIC-LUPUS-ERYTHEMATOSUS,NONMELANOMA SKIN-CANCER,GENERALIZED VITILIGO,SUSCEPTIBILITY LOCI,COMMON VARIANTS,PARTITIONING HERITABILITY,RHEUMATOID-ARTHRITIS,HAN CHINESE,GRANZYME-B,IN-VIVO},
  language     = {eng},
  number       = {11},
  pages        = {1418--1424},
  title        = {Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants},
  url          = {http://dx.doi.org/10.1038/ng.3680},
  volume       = {48},
  year         = {2016},
}

Chicago
Jin, Ying, Genevieve Andersen, Daniel Yorgov, Tracey M Ferrara, Songtao Ben, Kelly M Brownson, Paulene J Holland, et al. 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.
APA
Jin, Ying, Andersen, G., Yorgov, D., Ferrara, T. M., Ben, S., Brownson, K. M., Holland, P. J., et al. (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.
Vancouver
1.
Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, et al. Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. NATURE GENETICS. 2016;48(11):1418–24.
MLA
Jin, Ying, Genevieve Andersen, Daniel Yorgov, 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. Print.