{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:48:36Z","timestamp":1792100916962,"version":"4.4.0"},"reference-count":49,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2017,12,27]],"date-time":"2017-12-27T00:00:00Z","timestamp":1514332800000},"content-version":"vor","delay-in-days":26,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mucous membrane pemphigoid (MMP) is a rare, chronic and often aggressive subepidermal autoimmune blistering disease potentially affecting several mucous membranes with blisters and secondary erosions and scars. The pathogenesis of MMP is poorly understood, and the contribution of genetic predispositions, other than HLA class II allele variants to MMP, is unknown. The objective of this study is to identify susceptibility genes for MMP in a British cohort of MMP patients. A GWAS was conducted in a British cohort of 106 MMP patients. Publicly available genotypes of 2900 blood donors of the UK Blood Service and of 6740 individuals of the\n                    <jats:italic>1958 British Birth Cohort<\/jats:italic>\n                    served as control. Subsequently, putative susceptibility genes were independently replicated in a German cohort of 42 MMP patients. The GWAS found 38 SNPs in 28 haploblocks with an odds ratio &gt;2 reaching genomewide significance (\n                    <jats:italic>P<\/jats:italic>\n                    \u00a0&lt;\u00a05.7\u00a0\u00d7\u00a010\n                    <jats:sup>\u22127<\/jats:sup>\n                    ). Replication confirmed an association of MMP with SNPs in rs17203398 (OR: 3.9), located intronically in the \u03b2\u2010galactocerebrosidase gene (\n                    <jats:italic>GALC<\/jats:italic>\n                    ) on chromosome 14 and with recessive polymorphisms in rs9936045 (OR: 3.1) in the intergenic region between\n                    <jats:italic>CASC16<\/jats:italic>\n                    and\n                    <jats:italic>CHD9<\/jats:italic>\n                    on chromosome 16. The risk of developing MMP is partially genetically determined. SNPs in\n                    <jats:italic>GALC<\/jats:italic>\n                    enhance the risk for MMP, indicating that \u03b2\u2010galactocerebrosidase may be involved in the pathogenesis of MMP. Likewise, impacts of polymorphisms in the intergenic region between\n                    <jats:italic>CASC16<\/jats:italic>\n                    and\n                    <jats:italic>CHD9<\/jats:italic>\n                    on the activity of neighbouring genes may facilitate the emergence of MMP. The putative role of both polymorphisms requires functional studies in the future.\n                  <\/jats:p>","DOI":"10.1111\/exd.13464","type":"journal-article","created":{"date-parts":[[2017,11,14]],"date-time":"2017-11-14T12:12:37Z","timestamp":1510661557000},"page":"1214-1220","source":"Crossref","is-referenced-by-count":15,"title":["Genomewide association study identifies\n                    <i>GALC<\/i>\n                    as susceptibility gene for mucous membrane pemphigoid"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6701-048X","authenticated-orcid":false,"given":"Christian D.","family":"Sadik","sequence":"first","affiliation":[{"name":"Department of Dermatology, Allergy, and Venereology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Bischof","sequence":"additional","affiliation":[{"name":"L\u00fcbeck Institute of Experimental Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"van Beek","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Allergy, and Venereology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anabelle","family":"Dieterich","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Allergy, and Venereology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Benoit","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology and Allergology University Hospital W\u00fcrzburg  W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikl\u00f3s","family":"S\u00e1rdy","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergy Ludwig Maximilian University  Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margitta","family":"Worm","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Allergy, and Venereology Charit\u00e9  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Meller","sequence":"additional","affiliation":[{"name":"Department of Dermatology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regine","family":"Gl\u00e4ser","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Venereology, and Allergy Christian Albrechts University zu Kiel  Kiel Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Zillikens","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Allergy, and Venereology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Homey","sequence":"additional","affiliation":[{"name":"Department of Dermatology Heinrich Heine University  D\u00fcsseldorf Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Setterfield","sequence":"additional","affiliation":[{"name":"Guy's and St Thomas's NHS Foundation Trust and King's College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darwin","family":"Minassian","sequence":"additional","affiliation":[{"name":"Epivision (Ophthalmic Epidemiology Consultants)  Penn UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enno","family":"Schmidt","sequence":"additional","affiliation":[{"name":"L\u00fcbeck Institute of Experimental Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Dart","sequence":"additional","affiliation":[{"name":"Moorfields Eye Hospital NHS Foundation Trust and the UCL Institute of Ophthalmology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the MMP study group 2009 \u2013 2014","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Autoimmune Bullous Diseases Study Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh M.","family":"Ibrahim","sequence":"additional","affiliation":[{"name":"L\u00fcbeck Institute of Experimental Dermatology University of L\u00fcbeck  L\u00fcbeck Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,12,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2016.04.015"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61140-4"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2011.07.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2007.04.027"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06998.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clindermatol.2016.02.010"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64182-X"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1674"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12883"},{"key":"e_1_2_8_11_1","first-page":"e87001","volume":"1","author":"Ahadome S. D.","year":"2016","journal-title":"JCI Insight"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2016.284"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2016.07.013"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.24.11579"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.16.7747"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000246943"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12332352"},{"key":"e_1_2_8_18_1","first-page":"330","volume":"8","author":"Drouet M.","year":"1998","journal-title":"Eur. J. Dermatol."},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.2001.04448.x"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2001.04380.x"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2008.06.002"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1542-0124(12)70281-1"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1847"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.717"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11582"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(93)90175-9"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(95)80230-J"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1311990110"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.20851"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0027134"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-12-256461"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0296-4"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.21070"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/60.11.1062"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-5728(96)00166-X"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-09-1250"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq122"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.10874"},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-12-621"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2007.01.008"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2005.06.049"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.02.160"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.20586"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12106"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2004.12.021"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/ijd.12967"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06938.x"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaut.2015.05.004"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12732"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.13464","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.13464","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T08:40:58Z","timestamp":1694594458000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.13464"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12]]},"references-count":49,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["10.1111\/exd.13464"],"URL":"https:\/\/doi.org\/10.1111\/exd.13464","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.732115857.793549770","asserted-by":"object"}]},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,12]]}}}