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, TM Ferrara, S Ben… - Nature …, 2016 - nature.com
Y Jin, G Andersen, D Yorgov, TM Ferrara, S Ben, KM Brownson, PJ Holland, SA Birlea…
Nature genetics, 2016nature.com
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 …
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.
nature.com
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