{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T08:28:47Z","timestamp":1759048127029},"reference-count":46,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,5,6]],"date-time":"2016-05-06T00:00:00Z","timestamp":1462492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dermatomyositis (<jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>) is a polygenic disorder characterized by inflammation of skeletal muscle and skin. To date, the exact etiopathogenesis of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> remains elusive. To explore the genetic basis of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content>, we conducted genome\u2010wide genotyping analysis of 127 patients and 1566 healthy controls by Illumina Human OmniZhongHua\u20108 BeadChips in the Chinese Han population. We investigated whether the three <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"rs7750458\">rs7750458<\/jats:ext-link>, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"rs9501251\">rs9501251<\/jats:ext-link> and <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"rs9500928\">rs9500928<\/jats:ext-link>) at 6p21.32 in the <jats:italic><jats:styled-content style=\"fixed-case\">HLA<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">DPB<\/jats:styled-content>1<\/jats:italic> gene were significantly associated with <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> (<jats:italic>P<\/jats:italic> &lt; 5 \u00d7 10<jats:sup>\u22128<\/jats:sup>) and identified two susceptibility loci at 7q34 (<jats:italic><jats:styled-content style=\"fixed-case\">PIP<\/jats:styled-content><\/jats:italic>, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"rs9986765\">rs9986765<\/jats:ext-link>, <jats:italic>P<\/jats:italic> = 7.45 \u00d7 10<jats:sup>\u22127<\/jats:sup>, odds ratio [<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>] = 2.71) and 10q24.2 (<jats:italic><jats:styled-content style=\"fixed-case\">CPN<\/jats:styled-content>1<\/jats:italic>, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"rs3750716\">rs3750716<\/jats:ext-link>, <jats:italic>P<\/jats:italic> = 9.04 \u00d7 10<jats:sup>\u22127<\/jats:sup>, <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content> = 4.39) with suggestive evidence. We imputed 6674 classical human leukocyte antigen (<jats:styled-content style=\"fixed-case\">HLA<\/jats:styled-content>) alleles, amino acids and <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> from the discovery dataset, and stepwise analysis revealed that <jats:italic><jats:styled-content style=\"fixed-case\">HLA<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">DPB<\/jats:styled-content>1*17<\/jats:italic> in class <jats:styled-content style=\"fixed-case\">II HLA<\/jats:styled-content> genes were significantly associated with <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> susceptibility. This study represents the first genome\u2010wide association study (<jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content>) of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> in the Chinese Han population. For the first time, <jats:italic><jats:styled-content style=\"fixed-case\">HLA<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">DPB<\/jats:styled-content>1<\/jats:italic> was found to be associated with <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> in this population. Moreover, we identified two novel suggestive susceptibility loci (<jats:italic><jats:styled-content style=\"fixed-case\">PIP<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">CPN<\/jats:styled-content>1<\/jats:italic>) and confirmed four previously reported genes (<jats:italic><jats:styled-content style=\"fixed-case\">DMB<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">DQA<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">DQB<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">DRB<\/jats:styled-content>1<\/jats:italic>) having potential associations with <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> in the Chinese Han population. Our <jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content> results in this population should provide important information regarding the genetic etiopathogenesis of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> and facilitate the development of new therapies for the treatment of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> and the prevention of <jats:styled-content style=\"fixed-case\">DM<\/jats:styled-content> progression.<\/jats:p>","DOI":"10.1111\/1346-8138.13397","type":"journal-article","created":{"date-parts":[[2016,5,6]],"date-time":"2016-05-06T11:13:37Z","timestamp":1462533217000},"page":"1307-1313","source":"Crossref","is-referenced-by-count":20,"title":["Variation at <i><scp>HLA<\/scp>\u2010<scp>DPB<\/scp>1<\/i> is associated with dermatomyositis in Chinese population"],"prefix":"10.1111","volume":"43","author":[{"given":"Chang\u2010E","family":"Zhang","sequence":"first","affiliation":[{"name":"Institute of Dermatology Department of Dermatology and Venerology No. 1 Hospital Anhui Medical University Hefei China"},{"name":"Department of Dermatology Zhengzhou Children's Hospital Henan China"},{"name":"Collaborative Innovation Center of Complex and Severe Skin Disease Anhui Medical University Hefei China"},{"name":"State Key Lab Incubation of Dermatology Ministry of Science and Technology Hefei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Li","sequence":"additional","affiliation":[{"name":"Institute of Dermatology Department of Dermatology and Venerology No. 1 Hospital Anhui Medical University Hefei China"},{"name":"Collaborative Innovation Center of Complex and Severe Skin Disease Anhui Medical University Hefei China"},{"name":"State Key Lab Incubation of Dermatology Ministry of Science and Technology Hefei 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