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

Schwarm C, Gola D, Holtsche MM et al.

34011352 PubMed ID
GWAS Study Type
855 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SC
Schwarm C
GD
Gola D
HM
Holtsche MM
DA
Dieterich A
BA
Bhandari A
FM
Freitag M
NP
Nürnberg P
TM
Toliat M
LW
Lieb W
WM
Wittig M
FA
Franke A
WM
Worm M
SM
Sticherling M
EJ
Ehrchen J
GC
Günther C
GR
Gläser R
PW
Peitsch WK
SM
Sárdy M
ER
Eming R
HM
Hertl M
BS
Benoit S
GM
Goebeler M
PC
Pföhler C
KM
Kunz M
KA
Kreuter A
VB
van Beek N
EJ
Erdmann J
BH
Busch H
ZD
Zillikens D
SC
Sadik CD
HM
Hirose M
KI
König IR
SE
Schmidt E
IS
Ibrahim SM
Chapter II

Abstract

Summary of the research findings

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.

438 German cases, 417 German controls

Chapter III

Study Statistics

Key metrics and study information

855
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
Germany
Recruitment Country
Chapter IV

AI-Generated Summary

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