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Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.
Jin, Ying; Andersen, Genevieve; Yorgov, Daniel; Ferrara, Tracey M; Ben, Songtao; Brownson, Kelly M; Holland, Paulene J; Birlea, Stanca A; Siebert, Janet; Hartmann, Anke; Lienert, Anne; van Geel, Nanja; Lambert, Jo; Luiten, Rosalie M; Wolkerstorfer, Albert; Wietze van der Veen, J P; Bennett, Dorothy C; Taïeb, Alain; Ezzedine, Khaled; Kemp, E Helen; Gawkrodger, David J; Weetman, Anthony P; Kõks, Sulev; Prans, Ele; Kingo, Külli; Karelson, Maire; Wallace, Margaret R; McCormack, Wayne T; Overbeck, Andreas; Moretti, Silvia; Colucci, Roberta; Picardo, Mauro; Silverberg, Nanette B; Olsson, Mats; Valle, Yan; Korobko, Igor; Böhm, Markus; Lim, Henry W; Hamzavi, Iltefat; Zhou, Li; Mi, Qing-Sheng; Fain, Pamela R; Santorico, Stephanie A; Spritz, Richard A.
Affiliation
  • Jin Y; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Andersen G; Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Yorgov D; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Ferrara TM; Department of Mathematical and Statistical Sciences, University of Colorado Denver, Denver, Colorado, USA.
  • Ben S; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Brownson KM; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Holland PJ; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Birlea SA; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Siebert J; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Hartmann A; Department of Dermatology, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Lienert A; CytoAnalytics, Denver, Colorado, USA.
  • van Geel N; Department of Dermatology, University Hospital Erlangen, Erlangen, Germany.
  • Lambert J; Department of Dermatology, University Hospital Erlangen, Erlangen, Germany.
  • Luiten RM; Department of Dermatology, Ghent University Hospital, Ghent, Belgium.
  • Wolkerstorfer A; Department of Dermatology, Ghent University Hospital, Ghent, Belgium.
  • Wietze van der Veen JP; Netherlands Institute for Pigment Disorders, Department of Dermatology, Academic Medical Centre University of Amsterdam, Amsterdam, the Netherlands.
  • Bennett DC; Netherlands Institute for Pigment Disorders, Department of Dermatology, Academic Medical Centre University of Amsterdam, Amsterdam, the Netherlands.
  • Taïeb A; Netherlands Institute for Pigment Disorders, Department of Dermatology, Academic Medical Centre University of Amsterdam, Amsterdam, the Netherlands.
  • Ezzedine K; Department of Dermatology, Medical Centre Haaglanden, The Hague, the Netherlands.
  • Kemp EH; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
  • Gawkrodger DJ; Centre de Référence des Maladies Rares de la Peau, Department of Dermatology, Hôpital St.-André, Bordeaux, France.
  • Weetman AP; Centre de Référence des Maladies Rares de la Peau, Department of Dermatology, Hôpital St.-André, Bordeaux, France.
  • Kõks S; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
  • Prans E; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
  • Kingo K; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
  • Karelson M; Department of Pathophysiology, University of Tartu, Tartu, Estonia.
  • Wallace MR; Department of Pathophysiology, University of Tartu, Tartu, Estonia.
  • McCormack WT; Department of Dermatology, University of Tartu, Tartu, Estonia.
  • Overbeck A; Department of Dermatology, University of Tartu, Tartu, Estonia.
  • Moretti S; Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Colucci R; Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
  • Picardo M; Lumiderm, Madrid, Spain.
  • Silverberg NB; Section of Dermatology, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
  • Olsson M; Section of Dermatology, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
  • Valle Y; Laboratorio Fisiopatologia Cutanea, Istituto Dermatologico San Gallicano, Rome, Italy.
  • Korobko I; Department of Dermatology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
  • Böhm M; Pediatric and Adolescent Dermatology, St. Luke's-Roosevelt Hospital Center, New York, New York, USA.
  • Lim HW; International Vitiligo Center, Uppsala, Sweden.
  • Hamzavi I; Vitiligo Research Foundation, New York, New York, USA.
  • Zhou L; Vitiligo Research Foundation, New York, New York, USA.
  • Mi QS; Institute of Gene Biology, Russian Academy of Sciences, Moscow, Russia.
  • Fain PR; Department of Dermatology, University of Münster, Münster, Germany.
  • Santorico SA; Department of Dermatology, Henry Ford Hospital, Detroit, Michigan, USA.
  • Spritz RA; Department of Dermatology, Henry Ford Hospital, Detroit, Michigan, USA.
Nat Genet ; 48(11): 1418-1424, 2016 11.
Article in En | MEDLINE | ID: mdl-27723757
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmune Diseases / Vitiligo / Genetic Predisposition to Disease Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Female / Humans / Male Language: En Journal: Nat Genet Year: 2016 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autoimmune Diseases / Vitiligo / Genetic Predisposition to Disease Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Female / Humans / Male Language: En Journal: Nat Genet Year: 2016 Document type: Article