학술논문
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans
Document Type
article
Author
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
Source
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-5 (2021)
Subject
Language
English
ISSN
1750-1172
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.