Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.

Jeanette Erdmann, Rüdiger Eming, Michael Hertl, Sandrine Benoit, Matthias Goebeler, Claudia Pföhler, Manfred Kunz, Alexander Kreuter, Nina van Beek, Miklós Sárdy, Hauke Busch, Detlef Zillikens, Christian D Sadik, Misa Hirose, Inke R König, Enno Schmidt, Saleh M Ibrahim, Michael Wittig, Damian Gola, Maike M Holtsche, Anabelle Dieterich, Anita Bhandari, Miriam Freitag, Peter Nürnberg, Mohammad Toliat, Wolfgang Lieb, Christian Schwarm, André Franke, Margitta Worm, Michael Sticherling, Jan Ehrchen, Claudia Günther, Regine Gläser, Wiebke K Peitsch

Journal: Orphanet journal of rare diseases 2021;16(1):228

PMID: 34011352

Abstract

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.

Address: Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany.; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany.; Institute of Medical Biometry and Statistics, University of Lübeck, University Clinic Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.; Department of Dermatology, University Hospital Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany.; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Epidemiology and Popgen Biobank, Christian Albrechts-University of Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, Christian Albrechts-University of Kiel, Kiel, Germany.; Allegologie Und Immunologie, Klinik Für Dermatologie, Venerologie und Allergologie, Charité Universitätsmedizin Berlin, Berlin, Germany.; Department of Dermatology, University Hospital Erlangen, Deutsches Zentrum Immuntherapie (DZI), Erlangen, Germany.; Department of Dermatology, University of Münster, Münster, Germany.; Department of Dermatology, University Hospital Dresden, Dresden, Germany.; University Clinic Schleswig-Holstein, Campus Kiel, Kiel, Germany.; Department of Dermatology and Phlebology, Vivantes Klinikum Im Friedrichshain, Berlin, Germany.; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary.; Department of Dermatology and Allergology, University Hospital, LMU Munich, Munich, Germany.; Department of Dermatology and Allergology, Philipps-Universität Marburg, Marburg, Germany.; Department of Dermatology, Venereology and Allergology, University Hospital Würzburg, Würzburg, Germany.; Department of Dermatology, Saarland University Medical Center, Homburg/Saar, Germany.; Department of Dermatology, Venereology and Allergology, Leipzig University Medical Center, Leipzig, Germany.; Department of Dermatology, Venerology and Allergology, Helios St. Elisabeth Hospital Oberhausen, University Witten/Herdecke, Oberhausen, Germany.; Lübeck Institute of Experimental Dermatology, University of Lübeck, Lübeck, Germany. [email protected].; CRIS, Center for Research On Inflammation of the Skin, University of Lübeck, Lübeck, Germany. [email protected].; College of Medicine and Sharjah Institute for Medical Research, University of Sharjah, Sharjah, UAE. [email protected].
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