@article{6bcc6288b2e648b9822e50b89646f154,
title = "Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans",
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 = "Autoimmune blistering skin diseases, Bullous pemphigoid, Germans, GWAS, HLA",
author = "\{German AIBD Study Group\} and Christian Schwarm and Damian Gola and Holtsche, \{Maike M.\} and Anabelle Dieterich and Anita Bhandari and Miriam Freitag and Peter N{\"u}rnberg and Mohammad Toliat and Wolfgang Lieb and Michael Wittig and Andr{\'e} Franke and Margitta Worm and Michael Sticherling and Jan Ehrchen and Claudia G{\"u}nther and Regine Gl{\"a}ser and Peitsch, \{Wiebke K.\} and Mikl{\'o}s S{\'a}rdy and R{\"u}diger Eming and Michael Hertl and Sandrine Benoit and Matthias Goebeler and Claudia Pf{\"o}hler and Manfred Kunz and Alexander Kreuter and \{van Beek\}, Nina and Jeanette Erdmann and Hauke Busch and Detlef Zillikens and Sadik, \{Christian D.\} and Misa Hirose and K{\"o}nig, \{Inke R.\} and Enno Schmidt and Ibrahim, \{Saleh M.\}",
note = "Funding Information: This work was supported by the Germany Research Council (Deutsche Forschungsgemeinschaft, DFG) through the Clinical Research Unit 303 Pemphigoid Diseases (to NvB, IRK, JEr, HB, CDS, MHi, DZ, ES, and SMI). Funding Information: The authors would like to extend their gratitude towards all patients for their participation in this study. We are also grateful to the numerous study nurses, physicians, and technicians of the study centres who were involved in patient recruitment, sample storage, and sample shipping. We also thank the German Autoimmune Bullous Disease Study Group. Publisher Copyright: {\textcopyright} 2021, The Author(s).",
year = "2021",
month = dec,
doi = "10.1186/s13023-021-01863-9",
language = "British English",
volume = "16",
journal = "Orphanet Journal of Rare Diseases",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",
}