{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T15:45:56Z","timestamp":1768837556111,"version":"3.49.0"},"reference-count":55,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T00:00:00Z","timestamp":1670803200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100022600","name":"Wan Fang Hospital","doi-asserted-by":"publisher","award":["110-phd-06"],"award-info":[{"award-number":["110-phd-06"]}],"id":[{"id":"10.13039\/501100022600","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Transl Med"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Ankylosing spondylitis (AS) is an autoimmune disease affecting mainly spine and sacroiliac joints and adjacent soft tissues. Genome-wide association studies (GWASs) are used to evaluate genetic associations and to predict genetic risk factors that determine the biological basis of disease susceptibility.<\/jats:p>\n                <jats:p>We aimed to explore the race-specific SNP susceptibility of AS in Taiwanese individuals and to investigate the association between HLA-B27 and AS susceptibility SNPs in Taiwan.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Genotyping data were collected from a medical center participating in the Taiwan Precision Medicine Initiative (TPMI) in the northern district of Taiwan. We designed a case\u2013control study to identify AS susceptibility SNPs through GWAS. We searched the genome browser to find the corresponding susceptibility genes and used the GTEx database to confirm the regulation of gene expression. A polygenic risk score approach was also applied to evaluate the genetic variants in the prediction of developing AS.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The results showed that the SNPs located on the sixth chromosome were related to higher susceptibility in the AS group. There was no overlap between our results and the susceptibility SNPs found in other races. The 12 tag SNPs located in the MHC region that were found through the linkage disequilibrium method had higher gene expression. Furthermore, Taiwanese people with HLA-B27 positivity had a higher proportion of minor alleles. This might be the reason that the AS prevalence is higher in Taiwan than in other countries. We developed AS polygenic risk score models with six different methods in which those with the top 10% polygenic risk had a fivefold increased risk of developing AS compared to the remaining group with low risk.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>A total of 147 SNPs in the Taiwanese population were found to be statistically significantly associated with AS on the sixth pair of chromosomes and did not overlap with previously published sites in the GWAS Catalog. Whether those genes mapped by AS-associated SNPs are involved in AS and what the pathogenic mechanism of the mapped genes is remain to be further studied.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12967-022-03701-3","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T13:02:38Z","timestamp":1670850158000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genome-wide association study reveals ethnicity-specific SNPs associated with ankylosing spondylitis in the Taiwanese population"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0057-5616","authenticated-orcid":false,"given":"Ching-Lung","family":"Ko","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7121-2380","authenticated-orcid":false,"given":"Wei-Zhi","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meng-Ting","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1801-7041","authenticated-orcid":false,"given":"Yu-Tien","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0138-1904","authenticated-orcid":false,"given":"Hung-Che","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9609-6489","authenticated-orcid":false,"given":"Yi-Syuan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun-Fu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0338-1083","authenticated-orcid":false,"given":"Ke-Ting","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Chuan","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ko-Han","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Lun","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsung-Ting","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5910-5419","authenticated-orcid":false,"given":"Jia-Hsin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5058-4356","authenticated-orcid":false,"given":"Chih-Hung","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sung-Sen","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0753-6161","authenticated-orcid":false,"given":"Hsiang-Cheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8563-1378","authenticated-orcid":false,"given":"Chi-Ming","family":"Chu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,12,12]]},"reference":[{"key":"3701_CR1","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1136\/ard.2008.091074","volume":"68","author":"M Benjamin","year":"2009","unstructured":"Benjamin M, Toumi H, Suzuki D, Hayashi K, McGonagle D. Evidence for a distinctive pattern of bone formation in enthesophytes. Ann Rheum Dis. 2009;68:1003\u201310.","journal-title":"Ann Rheum Dis"},{"key":"3701_CR2","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1093\/rheumatology\/ket387","volume":"53","author":"LE Dean","year":"2014","unstructured":"Dean LE, Jones GT, MacDonald AG, Downham C, Sturrock RD, Macfarlane GJ. Global prevalence of ankylosing spondylitis. Rheumatology. 2014;53:650\u20137.","journal-title":"Rheumatology"},{"key":"3701_CR3","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1038\/s41413-019-0057-8","volume":"7","author":"W Zhu","year":"2019","unstructured":"Zhu W, He X, Cheng K, Zhang L, Chen D, Wang X, Qiu G, Cao X, Weng X. Ankylosing spondylitis: etiology, pathogenesis, and treatments. Bone Res. 2019;7:22.","journal-title":"Bone Res"},{"key":"3701_CR4","doi-asserted-by":"publisher","first-page":"5357","DOI":"10.1172\/JCI125212","volume":"129","author":"CH Liu","year":"2019","unstructured":"Liu CH, Raj S, Chen CH, Hung KH, Chou CT, Chen IH, Chien JT, Lin IY, Yang SY, Angata T, et al. HLA-B27-mediated activation of TNAP phosphatase promotes pathogenic syndesmophyte formation in ankylosing spondylitis. J Clin Invest. 2019;129:5357\u201373.","journal-title":"J Clin Invest"},{"key":"3701_CR5","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1038\/s41584-019-0343-2","volume":"16","author":"J Clarke","year":"2020","unstructured":"Clarke J. HLA-B27-related pathway mediates syndesmophyte formation in AS. Nat Rev Rheumatol. 2020;16:3\u20133.","journal-title":"Nat Rev Rheumatol"},{"key":"3701_CR6","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1097\/00002281-200107000-00007","volume":"13","author":"TE Feltkamp","year":"2001","unstructured":"Feltkamp TE, Mardjuadi A, Huang F, Chou CT. Spondyloarthropathies in eastern Asia. Curr Opin Rheumatol. 2001;13:285\u201390.","journal-title":"Curr Opin Rheumatol"},{"key":"3701_CR7","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.jbspin.2009.02.006","volume":"76","author":"A V\u00e9gv\u00e1ri","year":"2009","unstructured":"V\u00e9gv\u00e1ri A, Szab\u00f3 Z, Sz\u00e1nt\u00f3 S, Glant TT, Mikecz K, Szekanecz Z. The genetic background of ankylosing spondylitis. Joint Bone Spine. 2009;76:623\u20138.","journal-title":"Joint Bone Spine"},{"key":"3701_CR8","doi-asserted-by":"publisher","first-page":"2359","DOI":"10.1007\/s10067-017-3767-6","volume":"36","author":"F Jamalyaria","year":"2017","unstructured":"Jamalyaria F, Ward MM, Assassi S, Learch TJ, Lee M, Gensler LS, Brown MA, Diekman L, Tahanan A, Rahbar MH, et al. Ethnicity and disease severity in ankylosing spondylitis a cross-sectional analysis of three ethnic groups. Clin Rheumatol. 2017;36:2359\u201364.","journal-title":"Clin Rheumatol"},{"key":"3701_CR9","doi-asserted-by":"publisher","first-page":"1168","DOI":"10.1136\/annrheumdis-2020-219446","volume":"80","author":"Z Li","year":"2021","unstructured":"Li Z, Wu X, Leo PJ, De Guzman E, Akkoc N, Breban M, Macfarlane GJ, Mahmoudi M, Marzo-Ortega H, Anderson LK, et al. Polygenic risk scores have high diagnostic capacity in ankylosing spondylitis. Ann Rheum Dis. 2021;80:1168\u201374.","journal-title":"Ann Rheum Dis"},{"key":"3701_CR10","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1056\/NEJMra0905980","volume":"363","author":"TA Manolio","year":"2010","unstructured":"Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med. 2010;363:166\u201376.","journal-title":"N Engl J Med"},{"key":"3701_CR11","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, Pointon JJ, Jin R, Zhou X, Bradbury LA, et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet. 2010;42:123\u20137.","journal-title":"Nat Genet"},{"key":"3701_CR12","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1038\/ng.1005","volume":"44","author":"Z Lin","year":"2011","unstructured":"Lin Z, Bei JX, Shen M, Li Q, Liao Z, Zhang Y, Lv Q, Wei Q, Low HQ, Guo YM, et al. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. Nat Genet. 2011;44:73\u20137.","journal-title":"Nat Genet"},{"key":"3701_CR13","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1038\/ng.873","volume":"43","author":"DM Evans","year":"2011","unstructured":"Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA, et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet. 2011;43:761\u20137.","journal-title":"Nat Genet"},{"key":"3701_CR14","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1038\/ng.2667","volume":"45","author":"A Cortes","year":"2013","unstructured":"Cortes A, Hadler J, Pointon JP, Robinson PC, Karaderi T, Leo P, Cremin K, Pryce K, Harris J, Lee S, et al. Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet. 2013;45:730\u20138.","journal-title":"Nat Genet"},{"key":"3701_CR15","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1002\/art.38873","volume":"67","author":"PC Robinson","year":"2015","unstructured":"Robinson PC, Claushuis TA, Cortes A, Martin TM, Evans DM, Leo P, Mukhopadhyay P, Bradbury LA, Cremin K, Harris J, et al. Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis. Arthr Rheumatol. 2015;67:140\u201351.","journal-title":"Arthr Rheumatol"},{"key":"3701_CR16","doi-asserted-by":"publisher","first-page":"1018","DOI":"10.1038\/nm.3933","volume":"21","author":"YR Li","year":"2015","unstructured":"Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, et al. Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nat Med. 2015;21:1018\u201327.","journal-title":"Nat Med"},{"key":"3701_CR17","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1038\/ng.3528","volume":"48","author":"D Ellinghaus","year":"2016","unstructured":"Ellinghaus D, Jostins L, Spain SL, Cortes A, Bethune J, Han B, Park YR, Raychaudhuri S, Pouget JG, H\u00fcbenthal M, et al. Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. Nat Genet. 2016;48:510\u20138.","journal-title":"Nat Genet"},{"key":"3701_CR18","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1002\/gepi.22202","volume":"43","author":"H Trochet","year":"2019","unstructured":"Trochet H, Pirinen M, Band G, Jostins L, McVean G, Spencer CCA. Bayesian meta-analysis across genome-wide association studies of diverse phenotypes. Genet Epidemiol. 2019;43:532\u201347.","journal-title":"Genet Epidemiol"},{"key":"3701_CR19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008038","volume":"15","author":"Z Li","year":"2019","unstructured":"Li Z, Akar S, Yarkan H, Lee SK, Cetin P, Can G, Kenar G, Capa F, Pamuk ON, Pehlivan Y, et al. Genome-wide association study in Turkish and Iranian populations identify rare familial Mediterranean fever gene (MEFV) polymorphisms associated with ankylosing spondylitis. PLoS Genet. 2019;15: e1008038.","journal-title":"PLoS Genet"},{"key":"3701_CR20","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1167\/iovs.61.6.3","volume":"61","author":"XF Huang","year":"2020","unstructured":"Huang XF, Li Z, De Guzman E, Robinson P, Gensler L, Ward MM, Rahbar MH, Lee M, Weisman MH, Macfarlane GJ, et al. Genomewide association study of acute anterior uveitis identifies new susceptibility loci. Invest Ophthalmol Vis Sci. 2020;61:3.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"3701_CR21","unstructured":"Taiwan, The World Factbook [https:\/\/www.cia.gov\/the-world-factbook\/countries\/taiwan\/ - people-and-society]"},{"key":"3701_CR22","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559\u201375.","journal-title":"Am J Hum Genet"},{"key":"3701_CR23","doi-asserted-by":"publisher","first-page":"1564","DOI":"10.1038\/nprot.2010.116","volume":"5","author":"CA Anderson","year":"2010","unstructured":"Anderson CA, Pettersson FH, Clarke GM, Cardon LR, Morris AP, Zondervan KT. Data quality control in genetic case-control association studies. Nat Protoc. 2010;5:1564\u201373.","journal-title":"Nat Protoc"},{"key":"3701_CR24","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1038\/ng.2653","volume":"45","author":"J Lonsdale","year":"2013","unstructured":"Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S, Hasz R, Walters G, Garcia F, Young N, et al. The Genotype-tissue expression (GTEx) project. Nat Genet. 2013;45:580\u20135.","journal-title":"Nat Genet"},{"key":"3701_CR25","doi-asserted-by":"publisher","first-page":"2759","DOI":"10.1038\/s41596-020-0353-1","volume":"15","author":"SW Choi","year":"2020","unstructured":"Choi SW, Mak TS, O\u2019Reilly PF. Tutorial: a guide to performing polygenic risk score analyses. Nat Protoc. 2020;15:2759\u201372.","journal-title":"Nat Protoc"},{"key":"3701_CR26","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/s13742-015-0047-8","volume":"4","author":"CC Chang","year":"2015","unstructured":"Chang CC, Chow CC, Tellier LC, Vattikuti S, Purcell SM, Lee JJ. Second-generation PLINK: rising to the challenge of larger and richer datasets. Gigascience. 2015;4:7.","journal-title":"Gigascience"},{"key":"3701_CR27","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1002\/gepi.22050","volume":"41","author":"TSH Mak","year":"2017","unstructured":"Mak TSH, Porsch RM, Choi SW, Zhou X, Sham PC. Polygenic scores via penalized regression on summary statistics. Genet Epidemiol. 2017;41:469\u201380.","journal-title":"Genet Epidemiol"},{"key":"3701_CR28","doi-asserted-by":"publisher","first-page":"5424","DOI":"10.1093\/bioinformatics\/btaa1029","volume":"36","author":"F Priv\u00e9","year":"2020","unstructured":"Priv\u00e9 F, Arbel J, Vilhj\u00e1lmsson BJ. LDpred2: better, faster, stronger. Bioinformatics. 2020;36:5424\u201331.","journal-title":"Bioinformatics"},{"key":"3701_CR29","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/s12859-020-3368-2","volume":"21","author":"YC Chang","year":"2020","unstructured":"Chang YC, Wu JT, Hong MY, Tung YA, Hsieh PH, Yee SW, Giacomini KM, Oyang YJ, Chen CY. GenEpi: gene-based epistasis discovery using machine learning. BMC Bioinformatics. 2020;21:68.","journal-title":"BMC Bioinformatics"},{"key":"3701_CR30","doi-asserted-by":"publisher","first-page":"1776","DOI":"10.1038\/s41467-019-09718-5","volume":"10","author":"T Ge","year":"2019","unstructured":"Ge T, Chen CY, Ni Y, Feng YA, Smoller JW. Polygenic prediction via bayesian regression and continuous shrinkage priors. Nat Commun. 2019;10:1776.","journal-title":"Nat Commun"},{"key":"3701_CR31","doi-asserted-by":"publisher","first-page":"1466","DOI":"10.1093\/bioinformatics\/btu848","volume":"31","author":"J Euesden","year":"2015","unstructured":"Euesden J, Lewis CM, O\u2019Reilly PF. PRSice: polygenic risk score software. Bioinformatics. 2015;31:1466\u20138.","journal-title":"Bioinformatics"},{"key":"3701_CR32","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1016\/j.cell.2019.03.028","volume":"177","author":"AV Khera","year":"2019","unstructured":"Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, et al. Polygenic prediction of weight and obesity trajectories from birth to adulthood. Cell. 2019;177:587-596.e589.","journal-title":"Cell"},{"key":"3701_CR33","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1038\/s41588-018-0183-z","volume":"50","author":"AV Khera","year":"2018","unstructured":"Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, Kathiresan S. Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018;50:1219\u201324.","journal-title":"Nat Genet"},{"key":"3701_CR34","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1038\/s41398-020-00971-7","volume":"10","author":"N Takahashi","year":"2020","unstructured":"Takahashi N, Nishimura T, Harada T, Okumura A, Choi D, Iwabuchi T, Kuwabara H, Takagai S, Nomura Y, Newcorn JH, et al. Polygenic risk score analysis revealed shared genetic background in attention deficit hyperactivity disorder and narcolepsy. Transl Psychiatry. 2020;10:284.","journal-title":"Transl Psychiatry"},{"key":"3701_CR35","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1136\/ard.20.3.215","volume":"20","author":"J de Blecourt","year":"1961","unstructured":"de Blecourt J, Polman A, de Bl\u00e9court-Meindersma T. Hereditary factors in rheumatoid arthritis and ankylosing spondylitis. Ann Rheum Dis. 1961;20:215.","journal-title":"Ann Rheum Dis"},{"key":"3701_CR36","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1097\/01.bor.0000231899.81677.04","volume":"18","author":"JD Reveille","year":"2006","unstructured":"Reveille JD. The genetic basis of ankylosing spondylitis. Curr Opin Rheumatol. 2006;18:332\u201341.","journal-title":"Curr Opin Rheumatol"},{"key":"3701_CR37","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1016\/S0140-6736(73)91360-3","volume":"1","author":"DA Brewerton","year":"1973","unstructured":"Brewerton DA, Hart FD, Nicholls A, Caffrey M, James DC, Sturrock RD. Ankylosing spondylitis and HL-A 27. Lancet. 1973;1:904\u20137.","journal-title":"Lancet"},{"key":"3701_CR38","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1093\/rheumatology\/kem269","volume":"47","author":"MA Brown","year":"2008","unstructured":"Brown MA. Breakthroughs in genetic studies of ankylosing spondylitis. Rheumatology. 2008;47:132\u20137.","journal-title":"Rheumatology"},{"key":"3701_CR39","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1136\/ard.44.6.359","volume":"44","author":"JT Gran","year":"1985","unstructured":"Gran JT, Husby G, Hordvik M. Prevalence of ankylosing spondylitis in males and females in a young middle-aged population of Troms\u00f8, northern Norway. Ann Rheum Dis. 1985;44:359\u201367.","journal-title":"Ann Rheum Dis"},{"key":"3701_CR40","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1002\/1529-0131(199801)41:1<58::AID-ART8>3.0.CO;2-G","volume":"41","author":"J Braun","year":"1998","unstructured":"Braun J, Bollow M, Remlinger G, Eggens U, Rudwaleit M, Distler A, Sieper J. Prevalence of spondylarthropathies in HLA-B27 positive and negative blood donors. Arthr Rheum. 1998;41:58\u201367.","journal-title":"Arthr Rheum"},{"key":"3701_CR41","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1002\/art.1780270301","volume":"27","author":"SM van der Linden","year":"1984","unstructured":"van der Linden SM, Valkenburg HA, de Jongh BM, Cats A. The risk of developing ankylosing spondylitis in HLA-B27 positive individuals. a comparison of relatives of spondylitis patients with the general population. Arthr Rheum. 1984;27:241\u20139.","journal-title":"Arthr Rheum"},{"key":"3701_CR42","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1007\/s11926-013-0362-y","volume":"15","author":"MA Khan","year":"2013","unstructured":"Khan MA. Polymorphism of HLA-B27: 105 subtypes currently known. Curr Rheumatol Rep. 2013;15:362.","journal-title":"Curr Rheumatol Rep"},{"key":"3701_CR43","doi-asserted-by":"publisher","first-page":"749","DOI":"10.1007\/s10067-014-2662-7","volume":"33","author":"JD Reveille","year":"2014","unstructured":"Reveille JD. An update on the contribution of the MHC to AS susceptibility. Clin Rheumatol. 2014;33:749\u201357.","journal-title":"Clin Rheumatol"},{"key":"3701_CR44","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1086\/319509","volume":"68","author":"SH Laval","year":"2001","unstructured":"Laval SH, Timms A, Edwards S, Bradbury L, Brophy S, Milicic A, Rubin L, Siminovitch KA, Weeks DE, Calin A, et al. Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci. Am J Hum Genet. 2001;68:918\u201326.","journal-title":"Am J Hum Genet"},{"key":"3701_CR45","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1038\/nature06258","volume":"449","author":"KA Frazer","year":"2007","unstructured":"Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, et al. A second generation human haplotype map of over 31 million SNPs. Nature. 2007;449:851\u201361.","journal-title":"Nature"},{"key":"3701_CR46","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1038\/nature04226","volume":"437","author":"The International HapMap Consortium","year":"2005","unstructured":"The International HapMap Consortium. A haplotype map of the human genome. Nature 2005;437:1299\u2013320. https:\/\/doi.org\/10.1038\/nature04226.","journal-title":"Nature"},{"key":"3701_CR47","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1038\/ng.513","volume":"42","author":"J Reveille","year":"2010","unstructured":"Reveille J, Sims A, Danoy P, Evans D, Leo P, Pointon J, Jin R, Zhou X, Bradbury L, Appleton L, et al. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nat Genet. 2010;42:123\u20137.","journal-title":"Nat Genet"},{"key":"3701_CR48","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2021.624632","volume":"12","author":"Z Nancy","year":"2021","unstructured":"Nancy Z, Yan L, Hui S, Paul B, Liye C. From the genetics of ankylosing spondylitis to new biology and drug target discovery. Front Immunol. 2021;12: 624632.","journal-title":"Front Immunol"},{"key":"3701_CR49","doi-asserted-by":"publisher","first-page":"2103","DOI":"10.1002\/art.38650","volume":"66","author":"SH Jung","year":"2014","unstructured":"Jung SH, Yim SH, Hu HJ, Lee KH, Lee JH, Sheen DH, Lim MK, Kim SY, Park SW, Kim SH, et al. Genome-wide copy number variation analysis identifies deletion variants associated with ankylosing spondylitis. Arthritis Rheumatol. 2014;66:2103\u201312.","journal-title":"Arthritis Rheumatol"},{"key":"3701_CR50","doi-asserted-by":"publisher","first-page":"674","DOI":"10.3899\/jrheum.190184","volume":"47","author":"X Zheng","year":"2020","unstructured":"Zheng X, Li Q, Li X, Zhang Y, Wu X, Wei Q, Cao S, Yang M, Lin Z, Liao Z, et al. Analysis of 47 Non-MHC ankylosing spondylitis susceptibility loci regarding associated variants across whites and Han Chinese. J Rheumatol. 2020;47:674\u201381.","journal-title":"J Rheumatol"},{"key":"3701_CR51","doi-asserted-by":"publisher","first-page":"20120369","DOI":"10.1098\/rstb.2012.0369","volume":"368","author":"SJ Holwerda","year":"2013","unstructured":"Holwerda SJ, de Laat W. CTCF: the protein, the binding partners, the binding sites and their chromatin loops. Philos Trans R Soc Lond B Biol Sci. 2013;368:20120369.","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"3701_CR52","doi-asserted-by":"publisher","first-page":"R171","DOI":"10.1186\/ar2860","volume":"11","author":"F Paladini","year":"2009","unstructured":"Paladini F, Belfiore F, Cocco E, Carcassi C, Cauli A, Vacca A, Fiorillo MT, Mathieu A, Cascino I, Sorrentino R. HLA-E gene polymorphism associates with ankylosing spondylitis in Sardinia. Arthritis Res Ther. 2009;11:R171.","journal-title":"Arthritis Res Ther"},{"key":"3701_CR53","unstructured":"Mathioudaki A, Nordin J, Mur\u00e9n E, Karlsson \u00c5, Olsson M, Pielberg G, Welander J, Kastbom A, S\u00f6derkvist P, Eriksson P: Replication and fine mapping of ankylosing spondylitis replicated loci in the Swedish population reveal different CCHCR1 protective haplotypes. DiVA 2019. (https:\/\/www.diva-portal.org\/smash\/record.jsf?pid=diva2%3A1341718&dswid=3429)"},{"key":"3701_CR54","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.jaut.2019.04.022","volume":"102","author":"P Coit","year":"2019","unstructured":"Coit P, Kaushik P, Caplan L, Kerr GS, Walsh JA, Dubreuil M, Reimold A, Sawalha AH. Genome-wide DNA methylation analysis in ankylosing spondylitis identifies HLA-B*27 dependent and independent DNA methylation changes in whole blood. J Autoimmun. 2019;102:126\u201332.","journal-title":"J Autoimmun"},{"key":"3701_CR55","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1038\/ng.603","volume":"42","author":"C Quan","year":"2010","unstructured":"Quan C, Ren YQ, Xiang LH, Sun LD, Xu AE, Gao XH, Chen HD, Pu XM, Wu RN, Liang CZ, et al. Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. Nat Genet. 2010;42:614\u20138.","journal-title":"Nat Genet"}],"container-title":["Journal of Translational Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-022-03701-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12967-022-03701-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12967-022-03701-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T22:04:23Z","timestamp":1671228263000},"score":1,"resource":{"primary":{"URL":"https:\/\/translational-medicine.biomedcentral.com\/articles\/10.1186\/s12967-022-03701-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,12]]},"references-count":55,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["3701"],"URL":"https:\/\/doi.org\/10.1186\/s12967-022-03701-3","relation":{},"ISSN":["1479-5876"],"issn-type":[{"value":"1479-5876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,12]]},"assertion":[{"value":"19 August 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 October 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The protocol of this study was reviewed and approved by the Institutional Review Board of the Tri-Service General Hospital (No.: B202005140).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"589"}}