Orphanet Journal of Rare Diseases (May 2021)
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans
- Christian Schwarm,
- Damian Gola,
- Maike M. Holtsche,
- Anabelle Dieterich,
- Anita Bhandari,
- Miriam Freitag,
- Peter Nürnberg,
- Mohammad Toliat,
- Wolfgang Lieb,
- Michael Wittig,
- André Franke,
- Margitta Worm,
- Michael Sticherling,
- Jan Ehrchen,
- Claudia Günther,
- Regine Gläser,
- Wiebke K. Peitsch,
- Miklós Sárdy,
- Rüdiger Eming,
- Michael Hertl,
- Sandrine Benoit,
- Matthias Goebeler,
- Claudia Pföhler,
- Manfred Kunz,
- Alexander Kreuter,
- Nina van Beek,
- Jeanette Erdmann,
- Hauke Busch,
- Detlef Zillikens,
- Christian D. Sadik,
- Misa Hirose,
- Inke R. König,
- Enno Schmidt,
- Saleh M. Ibrahim,
- German AIBD Study Group
Affiliations
- Christian Schwarm
- Lübeck Institute of Experimental Dermatology, University of Lübeck
- Damian Gola
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Maike M. Holtsche
- Department of Dermatology, University Hospital Schleswig-Holstein
- Anabelle Dieterich
- Department of Dermatology, University Hospital Schleswig-Holstein
- Anita Bhandari
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Miriam Freitag
- Lübeck Institute of Experimental Dermatology, University of Lübeck
- Peter Nürnberg
- Cologne Center for Genomics, University of Cologne
- Mohammad Toliat
- Cologne Center for Genomics, University of Cologne
- Wolfgang Lieb
- Institute of Epidemiology and Popgen Biobank, Christian Albrechts-University of Kiel
- Michael Wittig
- Institute of Clinical Molecular Biology, Christian Albrechts-University of Kiel
- André Franke
- Institute of Clinical Molecular Biology, Christian Albrechts-University of Kiel
- Margitta Worm
- Allegologie Und Immunologie, Klinik Für Dermatologie, Venerologie und Allergologie, Charité Universitätsmedizin Berlin
- Michael Sticherling
- Department of Dermatology, University Hospital Erlangen, Deutsches Zentrum Immuntherapie (DZI)
- Jan Ehrchen
- Department of Dermatology, University of Münster
- Claudia Günther
- Department of Dermatology, University Hospital Dresden
- Regine Gläser
- University Clinic Schleswig-Holstein
- Wiebke K. Peitsch
- Department of Dermatology and Phlebology, Vivantes Klinikum Im Friedrichshain
- Miklós Sárdy
- Department of Dermatology, Venereology and Dermatooncology, Semmelweis University
- Rüdiger Eming
- Department of Dermatology and Allergology, Philipps-Universität Marburg
- Michael Hertl
- Department of Dermatology and Allergology, Philipps-Universität Marburg
- Sandrine Benoit
- Department of Dermatology, Venereology and Allergology, University Hospital Würzburg
- Matthias Goebeler
- Department of Dermatology, Venereology and Allergology, University Hospital Würzburg
- Claudia Pföhler
- Department of Dermatology, Saarland University Medical Center
- Manfred Kunz
- Department of Dermatology, Venereology and Allergology, Leipzig University Medical Center
- Alexander Kreuter
- Department of Dermatology, Venerology and Allergology, Helios St. Elisabeth Hospital Oberhausen, University Witten/Herdecke
- Nina van Beek
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Jeanette Erdmann
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Hauke Busch
- Lübeck Institute of Experimental Dermatology, University of Lübeck
- Detlef Zillikens
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Christian D. Sadik
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Misa Hirose
- Lübeck Institute of Experimental Dermatology, University of Lübeck
- Inke R. König
- CRIS, Center for Research On Inflammation of the Skin, University of Lübeck
- Enno Schmidt
- Lübeck Institute of Experimental Dermatology, University of Lübeck
- Saleh M. Ibrahim
- Lübeck Institute of Experimental Dermatology, University of Lübeck
- German AIBD Study Group
- DOI
- https://doi.org/10.1186/s13023-021-01863-9
- Journal volume & issue
-
Vol. 16,
no. 1
pp. 1 – 5
Abstract
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.
Keywords
