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Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136166/ https://www.ncbi.nlm.nih.gov/pubmed/34011352 http://dx.doi.org/10.1186/s13023-021-01863-9 |
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| author | Schwarm, Christian Gola, Damian Holtsche, Maike M. Dieterich, Anabelle Bhandari, Anita Freitag, Miriam Nürnberg, Peter Toliat, Mohammad Lieb, Wolfgang Wittig, Michael Franke, André Worm, Margitta Sticherling, Michael Ehrchen, Jan Günther, Claudia Gläser, Regine Peitsch, Wiebke K. Sárdy, Miklós Eming, Rüdiger Hertl, Michael Benoit, Sandrine Goebeler, Matthias Pföhler, Claudia Kunz, Manfred Kreuter, Alexander van Beek, Nina Erdmann, Jeanette Busch, Hauke Zillikens, Detlef Sadik, Christian D. Hirose, Misa König, Inke R. Schmidt, Enno Ibrahim, Saleh M. |
| author_facet | Schwarm, Christian Gola, Damian Holtsche, Maike M. Dieterich, Anabelle Bhandari, Anita Freitag, Miriam Nürnberg, Peter Toliat, Mohammad Lieb, Wolfgang Wittig, Michael Franke, André Worm, Margitta Sticherling, Michael Ehrchen, Jan Günther, Claudia Gläser, Regine Peitsch, Wiebke K. Sárdy, Miklós Eming, Rüdiger Hertl, Michael Benoit, Sandrine Goebeler, Matthias Pföhler, Claudia Kunz, Manfred Kreuter, Alexander van Beek, Nina Erdmann, Jeanette Busch, Hauke Zillikens, Detlef Sadik, Christian D. Hirose, Misa König, Inke R. Schmidt, Enno Ibrahim, Saleh M. |
| author_sort | Schwarm, Christian |
| collection | PubMed |
| description | 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01863-9. |
| format | Online Article Text |
| id | pubmed-8136166 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | BioMed Central |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-81361662021-05-21 Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans Schwarm, Christian Gola, Damian Holtsche, Maike M. Dieterich, Anabelle Bhandari, Anita Freitag, Miriam Nürnberg, Peter Toliat, Mohammad Lieb, Wolfgang Wittig, Michael Franke, André Worm, Margitta Sticherling, Michael Ehrchen, Jan Günther, Claudia Gläser, Regine Peitsch, Wiebke K. Sárdy, Miklós Eming, Rüdiger Hertl, Michael Benoit, Sandrine Goebeler, Matthias Pföhler, Claudia Kunz, Manfred Kreuter, Alexander van Beek, Nina Erdmann, Jeanette Busch, Hauke Zillikens, Detlef Sadik, Christian D. Hirose, Misa König, Inke R. Schmidt, Enno Ibrahim, Saleh M. Orphanet J Rare Dis Letter to the Editor 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01863-9. BioMed Central 2021-05-19 /pmc/articles/PMC8136166/ /pubmed/34011352 http://dx.doi.org/10.1186/s13023-021-01863-9 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
| spellingShingle | Letter to the Editor Schwarm, Christian Gola, Damian Holtsche, Maike M. Dieterich, Anabelle Bhandari, Anita Freitag, Miriam Nürnberg, Peter Toliat, Mohammad Lieb, Wolfgang Wittig, Michael Franke, André Worm, Margitta Sticherling, Michael Ehrchen, Jan Günther, Claudia Gläser, Regine Peitsch, Wiebke K. Sárdy, Miklós Eming, Rüdiger Hertl, Michael Benoit, Sandrine Goebeler, Matthias Pföhler, Claudia Kunz, Manfred Kreuter, Alexander van Beek, Nina Erdmann, Jeanette Busch, Hauke Zillikens, Detlef Sadik, Christian D. Hirose, Misa König, Inke R. Schmidt, Enno Ibrahim, Saleh M. Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans |
| title | Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans |
| title_full | Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans |
| title_fullStr | Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans |
| title_full_unstemmed | Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans |
| title_short | Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA1*05:05 and -DRB1*07:01, in Germans |
| title_sort | identification of two novel bullous pemphigoid- associated alleles, hla-dqa1*05:05 and -drb1*07:01, in germans |
| topic | Letter to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136166/ https://www.ncbi.nlm.nih.gov/pubmed/34011352 http://dx.doi.org/10.1186/s13023-021-01863-9 |
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