Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA105:05 and -DRB107:01, 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...
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| Veröffentlicht in: | Orphanet journal of rare diseases 2021-05, Vol.16 (1), p.228-228, Article 228 |
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| creator | 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 |
| 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. |
| doi_str_mv | 10.1186/s13023-021-01863-9 |
| format | Article |
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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.</description><identifier>ISSN: 1750-1172</identifier><identifier>EISSN: 1750-1172</identifier><identifier>DOI: 10.1186/s13023-021-01863-9</identifier><identifier>PMID: 34011352</identifier><language>eng</language><publisher>England: BioMed Central Ltd</publisher><subject>Alleles ; Allelomorphism ; Antigens ; Autoantibodies ; Autoantigens ; Autoimmune blistering skin diseases ; Autoimmune diseases ; Autoimmunity ; Biobanks ; Bullous pemphigoid ; Collagen ; Datasets ; Disease ; DQA1 protein ; Drb1 protein ; Genes ; Genetic aspects ; Genetic variation ; Genome-wide association studies ; Genome-Wide Association Study ; Genomes ; Germans ; Germany ; GWAS ; Health aspects ; Histocompatibility antigen HLA ; HLA ; HLA-DQ alpha-Chains - genetics ; HLA-DRB1 Chains - genetics ; Humans ; Identification and classification ; Letter to the Editor ; Lupus ; Medical research ; Medicine, Experimental ; Meta-analysis ; Non-Fibrillar Collagens ; Pemphigoid, Bullous - genetics ; Rare diseases ; Risk factors ; Skin diseases</subject><ispartof>Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.228-228, Article 228</ispartof><rights>COPYRIGHT 2021 BioMed Central Ltd.</rights><rights>2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2021</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c597t-d7be21cd6f013d0d182fab2273db54f97d5a4930e47cdbcab4b2d2af0b1bae7c3</citedby><cites>FETCH-LOGICAL-c597t-d7be21cd6f013d0d182fab2273db54f97d5a4930e47cdbcab4b2d2af0b1bae7c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136166/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8136166/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/34011352$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Schwarm, Christian</creatorcontrib><creatorcontrib>Gola, Damian</creatorcontrib><creatorcontrib>Holtsche, Maike M</creatorcontrib><creatorcontrib>Dieterich, Anabelle</creatorcontrib><creatorcontrib>Bhandari, Anita</creatorcontrib><creatorcontrib>Freitag, Miriam</creatorcontrib><creatorcontrib>Nürnberg, Peter</creatorcontrib><creatorcontrib>Toliat, Mohammad</creatorcontrib><creatorcontrib>Lieb, Wolfgang</creatorcontrib><creatorcontrib>Wittig, Michael</creatorcontrib><creatorcontrib>Franke, André</creatorcontrib><creatorcontrib>Worm, Margitta</creatorcontrib><creatorcontrib>Sticherling, Michael</creatorcontrib><creatorcontrib>Ehrchen, Jan</creatorcontrib><creatorcontrib>Günther, Claudia</creatorcontrib><creatorcontrib>Gläser, Regine</creatorcontrib><creatorcontrib>Peitsch, Wiebke K</creatorcontrib><creatorcontrib>Sárdy, Miklós</creatorcontrib><creatorcontrib>Eming, Rüdiger</creatorcontrib><creatorcontrib>Hertl, Michael</creatorcontrib><creatorcontrib>Benoit, Sandrine</creatorcontrib><creatorcontrib>Goebeler, Matthias</creatorcontrib><creatorcontrib>Pföhler, Claudia</creatorcontrib><creatorcontrib>Kunz, Manfred</creatorcontrib><creatorcontrib>Kreuter, Alexander</creatorcontrib><creatorcontrib>van Beek, Nina</creatorcontrib><creatorcontrib>Erdmann, Jeanette</creatorcontrib><creatorcontrib>Busch, Hauke</creatorcontrib><creatorcontrib>Zillikens, Detlef</creatorcontrib><creatorcontrib>Sadik, Christian D</creatorcontrib><creatorcontrib>Hirose, Misa</creatorcontrib><creatorcontrib>König, Inke R</creatorcontrib><creatorcontrib>Schmidt, Enno</creatorcontrib><creatorcontrib>Ibrahim, Saleh M</creatorcontrib><creatorcontrib>German AIBD Study Group</creatorcontrib><creatorcontrib>German AIBD Study Group</creatorcontrib><title>Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA105:05 and -DRB107:01, in Germans</title><title>Orphanet journal of rare diseases</title><addtitle>Orphanet J Rare Dis</addtitle><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.</description><subject>Alleles</subject><subject>Allelomorphism</subject><subject>Antigens</subject><subject>Autoantibodies</subject><subject>Autoantigens</subject><subject>Autoimmune blistering skin diseases</subject><subject>Autoimmune diseases</subject><subject>Autoimmunity</subject><subject>Biobanks</subject><subject>Bullous pemphigoid</subject><subject>Collagen</subject><subject>Datasets</subject><subject>Disease</subject><subject>DQA1 protein</subject><subject>Drb1 protein</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic variation</subject><subject>Genome-wide association studies</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Germans</subject><subject>Germany</subject><subject>GWAS</subject><subject>Health aspects</subject><subject>Histocompatibility antigen HLA</subject><subject>HLA</subject><subject>HLA-DQ alpha-Chains - genetics</subject><subject>HLA-DRB1 Chains - genetics</subject><subject>Humans</subject><subject>Identification and classification</subject><subject>Letter to the Editor</subject><subject>Lupus</subject><subject>Medical research</subject><subject>Medicine, Experimental</subject><subject>Meta-analysis</subject><subject>Non-Fibrillar Collagens</subject><subject>Pemphigoid, Bullous - genetics</subject><subject>Rare diseases</subject><subject>Risk factors</subject><subject>Skin 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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><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c597t-d7be21cd6f013d0d182fab2273db54f97d5a4930e47cdbcab4b2d2af0b1bae7c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Alleles</topic><topic>Allelomorphism</topic><topic>Antigens</topic><topic>Autoantibodies</topic><topic>Autoantigens</topic><topic>Autoimmune blistering 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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.</abstract><cop>England</cop><pub>BioMed Central Ltd</pub><pmid>34011352</pmid><doi>10.1186/s13023-021-01863-9</doi><tpages>1</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1750-1172 |
| ispartof | Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.228-228, Article 228 |
| issn | 1750-1172 1750-1172 |
| language | eng |
| recordid | cdi_gale_infotracmisc_A665435903 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; Springer Nature OA Free Journals; PubMed Central; SpringerLink Journals - AutoHoldings |
| subjects | Alleles Allelomorphism Antigens Autoantibodies Autoantigens Autoimmune blistering skin diseases Autoimmune diseases Autoimmunity Biobanks Bullous pemphigoid Collagen Datasets Disease DQA1 protein Drb1 protein Genes Genetic aspects Genetic variation Genome-wide association studies Genome-Wide Association Study Genomes Germans Germany GWAS Health aspects Histocompatibility antigen HLA HLA HLA-DQ alpha-Chains - genetics HLA-DRB1 Chains - genetics Humans Identification and classification Letter to the Editor Lupus Medical research Medicine, Experimental Meta-analysis Non-Fibrillar Collagens Pemphigoid, Bullous - genetics Rare diseases Risk factors Skin diseases |
| title | Identification of two novel bullous pemphigoid- associated alleles, HLA-DQA105:05 and -DRB107:01, in Germans |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-06T05%3A39%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_doaj_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Identification%20of%20two%20novel%20bullous%20pemphigoid-%20associated%20alleles,%20HLA-DQA105:05%20and%20-DRB107:01,%20in%20Germans&rft.jtitle=Orphanet%20journal%20of%20rare%20diseases&rft.au=Schwarm,%20Christian&rft.aucorp=German%20AIBD%20Study%20Group&rft.date=2021-05-19&rft.volume=16&rft.issue=1&rft.spage=228&rft.epage=228&rft.pages=228-228&rft.artnum=228&rft.issn=1750-1172&rft.eissn=1750-1172&rft_id=info:doi/10.1186/s13023-021-01863-9&rft_dat=%3Cgale_doaj_%3EA665435903%3C/gale_doaj_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2528856439&rft_id=info:pmid/34011352&rft_galeid=A665435903&rft_doaj_id=oai_doaj_org_article_84efb268b4494d4bb022c88ca7f0f054&rfr_iscdi=true |