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


Christian Schwarm, Damian Gola, Maike 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 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 Sadik, Misa Hirose, Inke König, Enno Schmidt, Saleh Ibrahim




Orphanet journal of rare diseases




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.