{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T07:22:44Z","timestamp":1789716164207,"version":"4.0.1"},"reference-count":29,"publisher":"National Academy of Sciences","issue":"5","license":[{"start":{"date-parts":[[2016,7,19]],"date-time":"2016-07-19T00:00:00Z","timestamp":1468886400000},"content-version":"vor","delay-in-days":182,"URL":"http:\/\/www.pnas.org\/preview_site\/misc\/userlicense.xhtml"}],"funder":[{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR045584"],"award-info":[{"award-number":["R01AR045584"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR056292"],"award-info":[{"award-number":["R01AR056292"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2016,2,2]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Vitiligo is an autoimmune disease in which spots of white skin and hair result from destruction of melanocytes. Vitiligo is associated with\n                    <jats:italic>HLA-A*02:01<\/jats:italic>\n                    , which presents multiple vitiligo melanocyte autoantigens. We localize vitiligo risk to a SNP haplotype 20 kb downstream of the\n                    <jats:italic>HLA-A<\/jats:italic>\n                    gene, spanning a transcriptional regulatory element. Blood cells from healthy subjects carrying the high-risk haplotype expressed more\n                    <jats:italic>HLA-A<\/jats:italic>\n                    RNA than subjects carrying only nonhigh-risk haplotypes. Vitiligo risk in the MHC class I region thus derives from combined quantitative and qualitative phenomena: an SNP haplotype in a transcriptional regulator that induces elevated expression of\n                    <jats:italic>HLA-A<\/jats:italic>\n                    RNA in vivo, and strong linkage disequilibrium with an\n                    <jats:italic>HLA-A<\/jats:italic>\n                    allele that confers *02:01 specificity. These combine to increase HLA-A2 available to present melanocyte autoantigens.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1525001113","type":"journal-article","created":{"date-parts":[[2016,2,2]],"date-time":"2016-02-02T15:22:15Z","timestamp":1454426535000},"page":"1357-1362","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":57,"title":["Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of\n                    <i>HLA-A*02:01<\/i>\n                    in vivo"],"prefix":"10.1073","volume":"113","author":[{"given":"Masahiro","family":"Hayashi","sequence":"first","affiliation":[{"name":"Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Jin","sequence":"additional","affiliation":[{"name":"Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045;"},{"name":"Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Yorgov","sequence":"additional","affiliation":[{"name":"Department of Mathematical &amp; Statistical Science, University of Colorado Denver, Denver, CO 80217;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie A.","family":"Santorico","sequence":"additional","affiliation":[{"name":"Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045;"},{"name":"Department of Mathematical &amp; Statistical Science, University of Colorado Denver, Denver, CO 80217;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Hagman","sequence":"additional","affiliation":[{"name":"Department of Biomedical Research, National Jewish Health, Denver, CO 80206;"},{"name":"Department of Immunology and Microbiology, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracey M.","family":"Ferrara","sequence":"additional","affiliation":[{"name":"Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045;"},{"name":"Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth L.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Genetics, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Cavalli","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado School of Medicine, Aurora, CO 80045;"},{"name":"Internal Medicine and Clinical Immunology, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Raffaele Scientific Institute and Vita-Salute San Raffaele University, 20129 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles A.","family":"Dinarello","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Spritz","sequence":"additional","affiliation":[{"name":"Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO 80045;"},{"name":"Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2016,1,19]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/90935"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1006\/clin.1997.4412"},{"key":"e_1_3_3_3_2","doi-asserted-by":"crossref","first-page":"3385","DOI":"10.4049\/jimmunol.143.10.3385","article-title":"Regulation of HLA class I transcription in T cells","volume":"143","author":"Zachow KR","year":"1989","unstructured":"KR Zachow, HT Orr, Regulation of HLA class I transcription in T cells. J Immunol 143, 3385\u20133389 (1989).","journal-title":"J Immunol"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0908547"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.37"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7513441"},{"key":"e_1_3_3_7_2","first-page":"4895","article-title":"Identification of a shared HLA-A*0201-restricted T-cell epitope from the melanoma antigen tyrosinase-related protein 2 (TRP2)","volume":"58","author":"Parkhurst MR","year":"1998","unstructured":"MR Parkhurst, , Identification of a shared HLA-A*0201-restricted T-cell epitope from the melanoma antigen tyrosinase-related protein 2 (TRP2). Cancer Res 58, 4895\u20134901 (1998).","journal-title":"Cancer Res"},{"key":"e_1_3_3_8_2","first-page":"8100","article-title":"Mining the melanosome for tumor vaccine targets: P.polypeptide is a novel tumor-associated antigen","volume":"61","author":"Touloukian CE","year":"2001","unstructured":"CE Touloukian, WW Leitner, PF Robbins, SA Rosenberg, NP Restifo, Mining the melanosome for tumor vaccine targets: P.polypeptide is a novel tumor-associated antigen. Cancer Res 61, 8100\u20138104 (2001).","journal-title":"Cancer Res"},{"key":"e_1_3_3_9_2","first-page":"4348","article-title":"Synthetic peptides derived from the melanocyte-stimulating hormone receptor MC1R can stimulate HLA-A2-restricted cytotoxic T lymphocytes that recognize naturally processed peptides on human melanoma cells","volume":"57","author":"Salazar-Onfray F","year":"1997","unstructured":"F Salazar-Onfray, , Synthetic peptides derived from the melanocyte-stimulating hormone receptor MC1R can stimulate HLA-A2-restricted cytotoxic T lymphocytes that recognize naturally processed peptides on human melanoma cells. 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