Author:
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.
Abstract
AbstractBullous 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.
Funder
Deutsche Forschungsgemeinschaft
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
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