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Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.
Schwarm, Christian; Gola, Damian; Holtsche, Maike M; Dieterich, Anabelle; Bhandari, Anita; Freitag, Miriam; Nürnberg, Peter; Toliat, Mohammad; Lieb, Wolfgang; Wittig, Michael; Franke, André; Worm, Margitta; Sticherling, Michael; Ehrchen, Jan; Günther, Claudia; Gläser, Regine; Peitsch, Wiebke K; Sárdy, Miklós; Eming, Rüdiger; Hertl, Michael; Benoit, Sandrine; Goebeler, Matthias; Pföhler, Claudia; Kunz, Manfred; Kreuter, Alexander; van Beek, Nina; Erdmann, Jeanette; Busch, Hauke; Zillikens, Detlef; Sadik, Christian D; Hirose, Misa; König, Inke R; Schmidt, Enno; Ibrahim, Saleh M.
Afiliación
  • Schwarm C; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
  • Gola D; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
  • Holtsche MM; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
  • Dieterich A; Institute of Medical Biometry and Statistics, University of Lübeck, University Clinic Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  • Bhandari A; Department of Dermatology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  • Freitag M; Department of Dermatology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  • Nürnberg P; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
  • Toliat M; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
  • Lieb W; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.
  • Wittig M; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
  • Franke A; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Worm M; Cologne Center for Genomics, University of Cologne, Cologne, Germany.
  • Sticherling M; Institute of Epidemiology and Popgen Biobank, Christian Albrechts-University of Kiel, Kiel, Germany.
  • Ehrchen J; Institute of Clinical Molecular Biology, Christian Albrechts-University of Kiel, Kiel, Germany.
  • Günther C; Institute of Clinical Molecular Biology, Christian Albrechts-University of Kiel, Kiel, Germany.
  • Gläser R; Allegologie Und Immunologie, Klinik Für Dermatologie, Venerologie und Allergologie, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Peitsch WK; Department of Dermatology, University Hospital Erlangen, Deutsches Zentrum Immuntherapie (DZI), Erlangen, Germany.
  • Sárdy M; Department of Dermatology, University of Münster, Münster, Germany.
  • Eming R; Department of Dermatology, University Hospital Dresden, Dresden, Germany.
  • Hertl M; University Clinic Schleswig-Holstein, Campus Kiel, Kiel, Germany.
  • Benoit S; Department of Dermatology and Phlebology, Vivantes Klinikum Im Friedrichshain, Berlin, Germany.
  • Goebeler M; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.
  • Pföhler C; Department of Dermatology and Allergology, University Hospital, LMU Munich, Munich, Germany.
  • Kunz M; Department of Dermatology and Allergology, Philipps-Universität Marburg, Marburg, Germany.
  • Kreuter A; Department of Dermatology and Allergology, Philipps-Universität Marburg, Marburg, Germany.
  • van Beek N; Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Würzburg, Germany.
  • Erdmann J; Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Würzburg, Germany.
  • Busch H; Department of Dermatology, Saarland University Medical Center, Homburg/Saar, Germany.
  • Zillikens D; Department of Dermatology, Venereology and Allergology, Leipzig University Medical Center, Leipzig, Germany.
  • Sadik CD; Department of Dermatology, Venerology and Allergology, Helios St. Elisabeth Hospital Oberhausen, University Witten/Herdecke, Oberhausen, Germany.
  • Hirose M; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
  • König IR; Department of Dermatology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
  • Schmidt E; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.
  • Ibrahim SM; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.
Orphanet J Rare Dis ; 16(1): 228, 2021 05 19.
Article en En | MEDLINE | ID: mdl-34011352
Bullous pemphigoid (BP) is the most common autoimmune skin blistering disease characterized by autoimmunity against the hemidesmosomal proteins BP180, type XVII collagen, and BP230. To elucidate the genetic basis of susceptibility to BP, we performed the first genome-wide association study (GWAS) in Germans. This GWAS was combined with HLA locus targeted sequencing in an additional independent BP cohort. The strongest association with BP in Germans tested in this study was observed in the two HLA loci, HLA-DQA1*05:05 and HLA-DRB1*07:01. Further studies with increased sample sizes and complex studies integrating multiple pathogenic drivers will be conducted.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Penfigoide Ampolloso / Cadenas alfa de HLA-DQ / Cadenas HLA-DRB1 Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Penfigoide Ampolloso / Cadenas alfa de HLA-DQ / Cadenas HLA-DRB1 Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans País/Región como asunto: Europa Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido