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

Schwarm C, Gola D, Holtsche MM, Dieterich A, Bhandari A, Freitag M, Nürnberg P, Toliat M, Lieb W, Wittig M, Franke A, Worm M, Sticherling M, Ehrchen J, Günther C, Gläser R, Peitsch WK, Sárdy M, Eming R, Hertl M, Benoit S, Goebeler M, Pföhler C, Kunz M, Kreuter A, van Beek N, Erdmann J, Busch H, Zillikens D, Sadik CD, Hirose M, König IR, Schmidt E, Ibrahim SM (2021)

Publication Type: Journal article

Publication year: 2021

Journal

Orphanet Journal of Rare Diseases BioMed Central

Book Volume: 16

Article Number: 228

Journal Issue: 1

DOI: 10.1186/s13023-021-01863-9

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.

Authors with CRIS profile

Michael Sticherling Professur für Dermatologie

Involved external institutions

Semmelweis University / Semmelweis Egyetem HU Hungary (HU) Universität zu Köln DE Germany (DE) Universität zu Lübeck DE Germany (DE) Christian-Albrechts-Universität zu Kiel DE Germany (DE) Universitätsklinikum Würzburg DE Germany (DE) Universitätsklinikum Carl Gustav Carus Dresden DE Germany (DE) Vivantes - Netzwerk für Gesundheit GmbH DE Germany (DE) Universitätsklinikum des Saarlandes (UKS) DE Germany (DE) Universitätsklinikum Schleswig-Holstein (UKSH) DE Germany (DE) Universitätsklinikum Leipzig DE Germany (DE) Philipps-Universität Marburg DE Germany (DE) Charité - Universitätsmedizin Berlin DE Germany (DE) HELIOS Kliniken DE Germany (DE)

How to cite

APA:

Schwarm, C., Gola, D., Holtsche, M.M., Dieterich, A., Bhandari, A., Freitag, M.,... Ibrahim, S.M. (2021). Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans. Orphanet Journal of Rare Diseases, 16(1). https://doi.org/10.1186/s13023-021-01863-9

MLA:

Schwarm, Christian, et al. "Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans." Orphanet Journal of Rare Diseases 16.1 (2021).

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