Schwarm, Christian, Gola, Damian, Holtsche, Maike M., Dieterich, Anabelle, Bhandari, Anita, Freitag, Miriam, Nuernberg, Peter, Toliat, Mohammad, Lieb, Wolfgang, Wittig, Michael, Franke, Andre ORCID: 0000-0003-1530-5811, Worm, Margitta, Sticherling, Michael, Ehrchen, Jan, Guenther, Claudia, Glaeser, Regine, Peitsch, Wiebke K., Sardy, Miklos, Eming, Ruediger, Hertl, Michael, Benoit, Sandrine, Goebeler, Matthias, Pfoehler, Claudia, Kunz, Manfred, Kreuter, Alexander ORCID: 0000-0003-2275-499X, van Beek, Nina, Erdmann, Jeanette ORCID: 0000-0002-4486-6231, Busch, Hauke, Zillikens, Detlef, Sadik, Christian D., Hirose, Misa, Koenig, Inke R., Schmidt, Enno and Ibrahim, Saleh M. (2021). Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and-DRB1*07:01, in Germans. Orphanet J. Rare Dis., 16 (1). LONDON: BMC. ISSN 1750-1172

Full text not available from this repository.

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.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Schwarm, ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gola, DamianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Holtsche, Maike M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dieterich, AnabelleUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bhandari, AnitaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Freitag, MiriamUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toliat, MohammadUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lieb, WolfgangUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Wittig, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Franke, AndreUNSPECIFIEDorcid.org/0000-0003-1530-5811UNSPECIFIED
Worm, MargittaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sticherling, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ehrchen, JanUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Guenther, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Glaeser, RegineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Peitsch, Wiebke K.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sardy, MiklosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Eming, RuedigerUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hertl, MichaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Benoit, SandrineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Goebeler, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pfoehler, ClaudiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kunz, ManfredUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kreuter, AlexanderUNSPECIFIEDorcid.org/0000-0003-2275-499XUNSPECIFIED
van Beek, NinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Erdmann, JeanetteUNSPECIFIEDorcid.org/0000-0002-4486-6231UNSPECIFIED
Busch, HaukeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zillikens, DetlefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sadik, Christian D.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hirose, MisaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koenig, Inke R.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schmidt, EnnoUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ibrahim, Saleh M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-604763
DOI: 10.1186/s13023-021-01863-9
Journal or Publication Title: Orphanet J. Rare Dis.
Volume: 16
Number: 1
Date: 2021
Publisher: BMC
Place of Publication: LONDON
ISSN: 1750-1172
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
CLASS-II ALLELE; HLA CLASS-I; HLA-DQB1-ASTERISK-03/01Multiple languages
Genetics & Heredity; Medicine, Research & ExperimentalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/60476

Downloads

Downloads per month over past year

Altmetric

Export

Actions (login required)

View Item View Item