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.

Original languageEnglish
Article number228
JournalOrphanet Journal of Rare Diseases
Volume16
Issue number1
Pages (from-to)228
ISSN1750-1172
DOIs
Publication statusPublished - 19.05.2021

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)

Fingerprint

Dive into the research topics of 'Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans'. Together they form a unique fingerprint.

Cite this