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

German AIBD Study Group

doi:10.1186/s13023-021-01863-9

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA105:05 and -DRB107:01, in Germans

German AIBD Study Group

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.

Original language	English
Article number	228
Journal	Orphanet Journal of Rare Diseases
Volume	16
Issue number	1
Pages (from-to)	228
ISSN	1750-1172
DOIs	https://doi.org/10.1186/s13023-021-01863-9
Publication status	Published - 19.05.2021

Funding

This work was supported by the Germany Research Council (Deutsche Forschungsgemeinschaft, DFG) through the Clinical Research Unit 303 Pemphigoid Diseases (to NvB, IRK, JEr, HB, CDS, MHi, DZ, ES, and SMI). The authors would like to extend their gratitude towards all patients for their participation in this study. We are also grateful to the numerous study nurses, physicians, and technicians of the study centres who were involved in patient recruitment, sample storage, and sample shipping. We also thank the German Autoimmune Bullous Disease Study Group.

Research Areas and Centers

Academic Focus: Center for Infection and Inflammation Research (ZIEL)
Centers: Center for Research on Inflammation of the Skin (CRIS)

DFG Research Classification Scheme

2.21-05 Immunology
2.22-19 Dermatology
2.11-05 General Genetics and Functional Genome Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1186/s13023-021-01863-9

Cite this

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

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.",

author = "Christian Schwarm and \{German AIBD Study Group\} and Damian Gola and Holtsche, \{Maike M.\} and Anabelle Dieterich and Anita Bhandari and Miriam Freitag and Peter N{\"u}rnberg and Mohammad Toliat and Wolfgang Lieb and Michael Wittig and Andr{\'e} Franke and Margitta Worm and Michael Sticherling and Jan Ehrchen and Claudia G{\"u}nther and Regine Gl{\"a}ser and Peitsch, \{Wiebke K.\} and Mikl{\'o}s S{\'a}rdy and R{\"u}diger Eming and Michael Hertl and Sandrine Benoit and Matthias Goebeler and Claudia Pf{\"o}hler and Manfred Kunz and Alexander Kreuter and \{van Beek\}, Nina and Jeanette Erdmann and Hauke Busch and Detlef Zillikens and Sadik, \{Christian D.\} and Misa Hirose and K{\"o}nig, \{Inke R.\} and Enno Schmidt and Ibrahim, \{Saleh M.\}",

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year = "2021",

month = may,

day = "19",

doi = "10.1186/s13023-021-01863-9",

language = "English",

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T1 - Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans

AU - Schwarm, Christian

AU - German AIBD Study Group

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.

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.

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SN - 1750-1172

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JO - Orphanet Journal of Rare Diseases

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ER -

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA105:05 and -DRB107:01, in Germans

Abstract

Funding

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

Access to Document

Other files and links

Fingerprint

CRU 303: Pemphigoid Diseases - Molecular Pathways and their Therapeutic Potential

Cite this

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

Abstract

Funding

Research Areas and Centers

DFG Research Classification Scheme

UN SDGs

Access to Document

Other files and links

Fingerprint

Projects

CRU 303: Pemphigoid Diseases - Molecular Pathways and their Therapeutic Potential

Cite this

Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA105:05 and -DRB107:01, in Germans