학술논문
Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans.
Document Type
Letter
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
Source
Subject
*ALLELES
*GENOME-wide association studies
*BULLOUS pemphigoid
*SKIN diseases
*
*
*
Language
ISSN
1750-1172
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. [ABSTRACT FROM AUTHOR]