{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,13]],"date-time":"2025-10-13T08:54:20Z","timestamp":1760345660733},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,2,27]],"date-time":"2004-02-27T00:00:00Z","timestamp":1077840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:p><jats:bold>Background:\u2003<\/jats:bold> Bullous pemphigoid (BP) is an autoimmune blistering disease of the skin characterized by autoantibody attack on collagen XVII.<\/jats:p><jats:p><jats:bold>Objectives:\u2003<\/jats:bold> To characterize the genetic complexity of <jats:italic>COL17A1<\/jats:italic>, the gene which encodes for the autoantigen collagen XVII. The data will be used to determine whether there is an association between polymorphisms and haplotypes of <jats:italic>COL17A1<\/jats:italic> and genetic susceptibility to development of BP.<\/jats:p><jats:p><jats:bold>Methods:\u2003<\/jats:bold> The genetic complexity in <jats:italic>COL17A1<\/jats:italic> was deduced by screening and then sequencing the gene. Haplotypes were constructed from the resulting polymorphisms using the statistical programme PHASE. The linkage disequilibrium (D\u2032) between the polymorphisms was deduced from haplotypic data using the statistical programme GOLD. Association of the polymorphisms and haplotypes was tested for, in a cohort of BP patients and controls.<\/jats:p><jats:p><jats:bold>Results:\u2003<\/jats:bold> Screening of <jats:italic>COL17A1<\/jats:italic> for genetic variation was carried out in 29 individuals of North European caucasoid origin, and it revealed 19 single\u2010nucleotide polymorphisms in approximately 14.7\u2003kb of sequence. These variants resulted in 60 different haplotypes in 191 individuals, of which 13 occurred above 1% in the population. D\u2032 between the variants was found to be extensive, have a low correlation with physical distance and to extend over 33.8\u2003kb. No association was found with any of the polymorphisms or haplotypes and development of BP, when tested for, in a cohort of patients and controls.<\/jats:p><jats:p><jats:bold>Conclusion:\u2003<\/jats:bold> This study provides an extensive description of the genetic variation in <jats:italic>COL17A1<\/jats:italic> and shows no association of the genetic variants with susceptibility to BP.<\/jats:p>","DOI":"10.1111\/j.0906-6705.2004.0138.x","type":"journal-article","created":{"date-parts":[[2004,2,27]],"date-time":"2004-02-27T08:31:48Z","timestamp":1077870708000},"page":"140-147","source":"Crossref","is-referenced-by-count":7,"title":["Genetic variation in <i>COL17A1<\/i> and the development of bullous pemphigoid"],"prefix":"10.1111","volume":"13","author":[{"given":"Samantha","family":"Winsey","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorne","family":"Lonie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Allen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mike","family":"Bunce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara E.","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fenella","family":"Wojnarowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,2,27]]},"reference":[{"key":"e_1_2_4_2_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1999.00808.x"},{"key":"e_1_2_4_3_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI116856"},{"key":"e_1_2_4_4_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117826"},{"key":"e_1_2_4_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119639"},{"key":"e_1_2_4_6_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI3693"},{"key":"e_1_2_4_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1598576"},{"key":"e_1_2_4_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/intimm\/7.5.715"},{"key":"e_1_2_4_9_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.180.5.1901"},{"key":"e_1_2_4_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/35052543"},{"key":"e_1_2_4_11_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.146900"},{"key":"e_1_2_4_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/302448"},{"key":"e_1_2_4_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/301977"},{"key":"e_1_2_4_14_2","doi-asserted-by":"crossref","first-page":"(3): 231\u20138","DOI":"10.1038\/10290","article-title":"Characterisation of single\u2010nucleotide polymorphisms in coding regions of human genes","volume":"22","author":"Cargill M","year":"1999","journal-title":"Nat Genet"},{"key":"e_1_2_4_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/10297"},{"key":"e_1_2_4_16_2","first-page":"352","article-title":"Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa","volume":"60","author":"Gatalica B","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.302.6784.1057"},{"key":"e_1_2_4_18_2","first-page":"157","article-title":"Molecular typing for the MHC with PCR\u2010SSP","volume":"1","author":"Welsh K","year":"1999","journal-title":"Rev Immunogenet"},{"key":"e_1_2_4_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/319501"},{"key":"e_1_2_4_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/16.2.182"},{"key":"e_1_2_4_21_2","doi-asserted-by":"publisher","DOI":"10.1086\/515463"},{"key":"e_1_2_4_22_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00101.x"},{"key":"e_1_2_4_23_2","doi-asserted-by":"publisher","DOI":"10.1086\/321291"},{"key":"e_1_2_4_24_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1059431"},{"key":"e_1_2_4_25_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.144500"},{"key":"e_1_2_4_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/9642"},{"key":"e_1_2_4_27_2","doi-asserted-by":"publisher","DOI":"10.1086\/321275"},{"key":"e_1_2_4_28_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.148401"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.0906-6705.2004.0138.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.0906-6705.2004.0138.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T20:15:21Z","timestamp":1696968921000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.0906-6705.2004.0138.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,27]]},"references-count":27,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,3]]}},"alternative-id":["10.1111\/j.0906-6705.2004.0138.x"],"URL":"https:\/\/doi.org\/10.1111\/j.0906-6705.2004.0138.x","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,27]]}}}