{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T13:28:53Z","timestamp":1752672533078,"version":"3.40.4"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T00:00:00Z","timestamp":1379548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T00:00:00Z","timestamp":1379548800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Immun"],"published-print":{"date-parts":[[2013,12]]},"DOI":"10.1038\/gene.2013.46","type":"journal-article","created":{"date-parts":[[2013,9,19]],"date-time":"2013-09-19T09:26:41Z","timestamp":1379582801000},"page":"500-503","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Association between copy number variations of HLA-DQA1 and ankylosing spondylitis in the Chinese Han population"],"prefix":"10.1038","volume":"14","author":[{"given":"J","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Guo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Song","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"Reveille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2013,9,19]]},"reference":[{"key":"BFgene201346_CR1","doi-asserted-by":"publisher","first-page":"2624","DOI":"10.3899\/jrheum.100891","volume":"37","author":"JD Reveille","year":"2010","unstructured":"Reveille JD, Brown MA . Epidemiology of ankylosing spondylitis: IGAS 2009. J Rheumatol 2010; 37: 2624\u20132625.","journal-title":"J Rheumatol"},{"key":"BFgene201346_CR2","first-page":"263","volume":"10","author":"GP Thomas","year":"2010","unstructured":"Thomas GP, Brown MA . Genomics of ankylosing spondylitis. Discov Med 2010; 10: 263\u2013271.","journal-title":"Discov Med"},{"key":"BFgene201346_CR3","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1007\/978-1-4419-0298-6_11","volume":"649","author":"MA Brown","year":"2009","unstructured":"Brown MA . Genomewide screens in ankylosing spondylitis. Adv Exp Med Biol 2009; 649: 148\u2013158.","journal-title":"Adv Exp Med Biol"},{"key":"BFgene201346_CR4","doi-asserted-by":"publisher","first-page":"e7958","DOI":"10.1371\/journal.pone.0007958","volume":"4","author":"J Li","year":"2009","unstructured":"Li J, Yang T, Wang L, Yan H, Zhang Y, Guo Y et al. Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations. PLoS One 2009; 4: e7958.","journal-title":"PLoS One"},{"key":"BFgene201346_CR5","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1038\/ng2046","volume":"39","author":"M Fanciulli","year":"2007","unstructured":"Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L et al. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet 2007; 39: 721\u2013723.","journal-title":"Nat Genet"},{"key":"BFgene201346_CR6","doi-asserted-by":"publisher","first-page":"e15393","DOI":"10.1371\/journal.pone.0015393","volume":"5","author":"BL Grayson","year":"2010","unstructured":"Grayson BL, Smith ME, Thomas JW, Wang L, Dexheimer P, Jeffrey J et al. Genome-wide analysis of copy number variation in type 1 diabetes. PLoS One 2010; 5: e15393.","journal-title":"PLoS One"},{"key":"BFgene201346_CR7","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1097\/QAD.0b013e3283270b3f","volume":"23","author":"L Shostakovich-Koretskaya","year":"2009","unstructured":"Shostakovich-Koretskaya L, Catano G, Chykarenko ZA, He W, Gornalusse G, Mummidi S et al. Combinatorial content of CCL3L and CCL4L gene copy numbers influence HIV-AIDS susceptibility in Ukrainian children. AIDS 2009; 23: 679\u2013688.","journal-title":"AIDS"},{"key":"BFgene201346_CR8","doi-asserted-by":"crossref","first-page":"729478","DOI":"10.4061\/2011\/729478","volume":"2011","author":"S Swaminathan","year":"2011","unstructured":"Swaminathan S, Kim S, Shen L, Risacher SL, Foroud T, Pankratz N et al. Genomic copy number analysis in Alzheimer\u2019s disease and mild cognitive impairment: an ADNI study. Int J Alzheimers Dis 2011; 2011: 729478.","journal-title":"Int J Alzheimers Dis"},{"key":"BFgene201346_CR9","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1038\/ng.1005","volume":"44","author":"Z Lin","year":"2012","unstructured":"Lin Z, Bei JX, Shen M, Li Q, Liao Z, Zhang Y et al. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet 2012; 44: 73\u201377.","journal-title":"Nat Genet"},{"key":"BFgene201346_CR10","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1038\/ng.513","volume":"42","author":"JD Reveille","year":"2010","unstructured":"Australo-Anglo-American Spondyloarthritis Consortium (TASC) Reveille JD, Sims AM, Danoy P, Evans DM, Leo P et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet 2010; 42: 123\u2013127.","journal-title":"Nat Genet"},{"key":"BFgene201346_CR11","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1002\/1529-0131(199804)41:4<588::AID-ART5>3.0.CO;2-0","volume":"41","author":"MA Brown","year":"1998","unstructured":"Brown MA, Pile KD, Kennedy LG, Campbell D, Andrew L, March R et al. A genome-wide screen for susceptibility loci in ankylosing spondylitis. Arthritis Rheum 1998; 41: 588\u2013595.","journal-title":"Arthritis Rheum"},{"key":"BFgene201346_CR12","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1038\/nature05329","volume":"444","author":"R Redon","year":"2006","unstructured":"Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD et al. Global variation in copy number in the human genome. Nature 2006; 444: 444\u2013454.","journal-title":"Nature"},{"key":"BFgene201346_CR13","doi-asserted-by":"publisher","first-page":"S37","DOI":"10.1038\/ng2080","volume":"39","author":"SA McCarroll","year":"2007","unstructured":"McCarroll SA, Altshuler DM . Copy-number variation and association studies of human disease. Nat Genet 2007; 39: S37\u2013S42.","journal-title":"Nat Genet"},{"key":"BFgene201346_CR14","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1084\/jem.169.1.345","volume":"169","author":"LM Sollid","year":"1989","unstructured":"Sollid LM, Markussen G, Ek J, Gjerde H, Vartdal F, Thorsby E . Evidence for a primary association of celiac disease to a particular HLA-DQ alpha\/beta heterodimer. J Exp Med 1989; 169: 345\u2013350.","journal-title":"J Exp Med"},{"key":"BFgene201346_CR15","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1016\/j.cgh.2007.08.013","volume":"5","author":"JA Murray","year":"2007","unstructured":"Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR et al. HLA DQ gene dosage and risk and severity of celiac disease. Clin Gastroenterol Hepatol 2007; 5: 1406\u20131412.","journal-title":"Clin Gastroenterol Hepatol"},{"key":"BFgene201346_CR16","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1016\/0198-8859(93)90119-L","volume":"36","author":"F Petronzelli","year":"1993","unstructured":"Petronzelli F, Multari G, Ferrante P, Bonamico M, Rabuffo G, Campea L . Different dose effect of HLA-DQ alpha beta heterodimers in insulin-dependent diabetes mellitus and celiac disease susceptibility. Hum Immunol 1993; 36: 156\u2013162.","journal-title":"Hum Immunol"},{"key":"BFgene201346_CR17","doi-asserted-by":"publisher","first-page":"1094","DOI":"10.1073\/pnas.87.3.1094","volume":"87","author":"JA Todd","year":"1990","unstructured":"Todd JA, Fukui Y, Kitagawa T, Sasazuki T . The A3 allele of the HLA-DQA1 locus is associated with susceptibility to type 1 diabetes in Japanese. Proc Natl Acad Sci USA 1990; 87: 1094\u20131098.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFgene201346_CR18","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1084\/jem.191.1.97","volume":"191","author":"L Wen","year":"2000","unstructured":"Wen L, Wong FS, Tang J, Chen NY, Altieri M, David C et al. In vivo evidence for the contribution of human histocompatibility leukocyte antigen (HLA)-DQ molecules to the development of diabetes. J Exp Med 2000; 191: 97\u2013104.","journal-title":"J Exp Med"},{"key":"BFgene201346_CR19","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/j.1744-313X.2008.00823.x","volume":"36","author":"AC Britten","year":"2009","unstructured":"Britten AC, Mijovic CH, Barnett AH, Kelly MA . Differential expression of HLA-DQ alleles in peripheral blood mononuclear cells: alleles associated with susceptibility to and protection from autoimmune type 1 diabetes. Int J Immunogenet 2009; 36: 47\u201357.","journal-title":"Int J Immunogenet"},{"key":"BFgene201346_CR20","first-page":"82","volume":"49","author":"W Mau","year":"1990","unstructured":"Mau W, Zeidler H, Mau R, Majewski A, Freyschmidt J, Stangel W et al. Evaluation of early diagnostic criteria for ankylosing spondylitis in a 10 year follow-up. Z Rheumatol 1990; 49: 82\u201387.","journal-title":"Z Rheumatol"},{"key":"BFgene201346_CR21","doi-asserted-by":"publisher","first-page":"949","DOI":"10.1038\/ng1416","volume":"36","author":"AJ Iafrate","year":"2004","unstructured":"Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y et al. Detection of large-scale variation in the human genome. Nat Genet 2004; 36: 949\u2013951.","journal-title":"Nat Genet"},{"key":"BFgene201346_CR22","doi-asserted-by":"publisher","first-page":"e27341","DOI":"10.1371\/journal.pone.0027341","volume":"6","author":"H Lou","year":"2011","unstructured":"Lou H, Li S, Yang Y, Kang L, Zhang X, Jin W et al. A map of copy number variations in Chinese populations. PLoS One 2011; 6: e27341.","journal-title":"PLoS One"},{"key":"BFgene201346_CR23","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1159\/000095916","volume":"115","author":"J Zhang","year":"2006","unstructured":"Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW . Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res 2006; 115: 205\u2013214.","journal-title":"Cytogenet Genome Res"},{"key":"BFgene201346_CR24","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/jhg.2012.66","volume":"57","author":"R Du","year":"2012","unstructured":"Du R, Lu C, Jiang Z, Li S, Ma R, An H et al. Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. J Hum Genet 2012; 57: 545\u2013551.","journal-title":"J Hum Genet"}],"container-title":["Genes &amp; Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/gene201346.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201346","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/gene201346.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T14:45:46Z","timestamp":1746024346000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/gene201346"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,19]]},"references-count":24,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["BFgene201346"],"URL":"https:\/\/doi.org\/10.1038\/gene.2013.46","relation":{},"ISSN":["1466-4879","1476-5470"],"issn-type":[{"type":"print","value":"1466-4879"},{"type":"electronic","value":"1476-5470"}],"subject":[],"published":{"date-parts":[[2013,9,19]]},"assertion":[{"value":"6 May 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 August 2013","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 August 2013","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 September 2013","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}