TY - JOUR
T1 - Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans
AU - German AIBD Study Group
AU - Schwarm, Christian
AU - Gola, Damian
AU - Holtsche, Maike M.
AU - Dieterich, Anabelle
AU - Bhandari, Anita
AU - Freitag, Miriam
AU - Nürnberg, Peter
AU - Toliat, Mohammad
AU - Lieb, Wolfgang
AU - Wittig, Michael
AU - Franke, André
AU - Worm, Margitta
AU - Sticherling, Michael
AU - Ehrchen, Jan
AU - Günther, Claudia
AU - Gläser, Regine
AU - Peitsch, Wiebke K.
AU - Sárdy, Miklós
AU - Eming, Rüdiger
AU - Hertl, Michael
AU - Benoit, Sandrine
AU - Goebeler, Matthias
AU - Pföhler, Claudia
AU - Kunz, Manfred
AU - Kreuter, Alexander
AU - van Beek, Nina
AU - Erdmann, Jeanette
AU - Busch, Hauke
AU - Zillikens, Detlef
AU - Sadik, Christian D.
AU - Hirose, Misa
AU - König, Inke R.
AU - Schmidt, Enno
AU - Ibrahim, Saleh M.
N1 - Publisher Copyright:
© 2021, The Author(s).
PY - 2021/5/19
Y1 - 2021/5/19
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85106287801&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/d4fef0a5-035e-3230-bd61-57634a2c4c31/
U2 - 10.1186/s13023-021-01863-9
DO - 10.1186/s13023-021-01863-9
M3 - Letters
C2 - 34011352
AN - SCOPUS:85106287801
VL - 16
SP - 228
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
M1 - 228
ER -