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

Orphanet J Rare Dis. 2021 May 19;16(1):228. doi: 10.1186/s13023-021-01863-9.


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; GWAS; Germans; HLA.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Autoantibodies
  • Autoantigens
  • Genome-Wide Association Study
  • Germany
  • HLA-DQ alpha-Chains / genetics*
  • HLA-DRB1 Chains / genetics*
  • Humans
  • Non-Fibrillar Collagens
  • Pemphigoid, Bullous* / genetics


  • Autoantibodies
  • Autoantigens
  • HLA-DQ alpha-Chains
  • HLA-DQA1 antigen
  • HLA-DRB1 Chains
  • Non-Fibrillar Collagens