{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T04:14:31Z","timestamp":1791346471422,"version":"4.3.1"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,10,16]],"date-time":"2020-10-16T00:00:00Z","timestamp":1602806400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,10,16]],"date-time":"2020-10-16T00:00:00Z","timestamp":1602806400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109360h002"],"award-info":[{"award-number":["19ek0109360h002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002491","name":"Bristol-Myers Squibb","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002491","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Japan College of Rheumatology"},{"name":"Japan Rheumatism Association"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arthritis Res Ther"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Interstitial lung disease (ILD) is a severe complication with poor prognosis in anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV). Prevalence of AAV-associated ILD (AAV-ILD) in Japan is considerably higher than that in Europe. Recently, we reported that a<jats:italic>MUC5B<\/jats:italic>variant rs35705950, the strongest susceptibility variant to idiopathic pulmonary fibrosis (IPF), was strikingly increased in AAV-ILD patients but not in AAV patients without ILD; however, due to the low allele frequency in the Japanese population, the<jats:italic>MUC5B<\/jats:italic>variant alone cannot account for the high prevalence of AAV-ILD in Japan. In this study, we examined whether other IPF susceptibility alleles in<jats:italic>TERT<\/jats:italic>and<jats:italic>DSP<\/jats:italic>genes are associated with susceptibility to AAV subsets and AAV-ILD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Five hundred and forty-four Japanese patients with AAV and 5558 controls were analyzed. Among the AAV patients, 432 were positive for myeloperoxidase (MPO)-ANCA (MPO-AAV). A total of 176 MPO-AAV patients were positive and 216 were negative for ILD based on CT or high-resolution CT. Genotypes of<jats:italic>TERT<\/jats:italic>and<jats:italic>DSP<\/jats:italic>variants were determined by TaqMan SNP Genotyping Assay, and their association was tested by chi-square test.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>When the frequencies of the IPF risk alleles<jats:italic>TERT<\/jats:italic>rs2736100A and<jats:italic>DSP<\/jats:italic>rs2076295G were compared between AAV subsets and healthy controls, both alleles were significantly increased in microscopic polyangiitis (MPA) (<jats:italic>TERT P<\/jats:italic>\u2009=\u20092.3\u2009\u00d7\u200910<jats:sup>\u22124<\/jats:sup>,<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub>\u2009=\u20090.0023, odds ratio [OR] 1.38;<jats:italic>DSP P<\/jats:italic>\u2009=\u20096.9\u2009\u00d7\u200910<jats:sup>\u22124<\/jats:sup>,<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub>\u2009=\u20090.0069, OR 1.32) and MPO-AAV (<jats:italic>TERT P<\/jats:italic>\u2009=\u20091.5\u2009\u00d7\u200910<jats:sup>\u22124<\/jats:sup>,<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub>\u2009=\u20090.0015, OR 1.33;<jats:italic>DSP P<\/jats:italic>\u2009=\u20090.0011,<jats:italic>P<\/jats:italic><jats:sub>c<\/jats:sub>\u2009=\u20090.011, OR 1.26). On the other hand, no significant association was detected when the allele frequencies were compared between MPO-AAV patients with and without ILD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Unexpectedly,<jats:italic>TERT<\/jats:italic>and<jats:italic>DSP<\/jats:italic>IPF risk alleles were found to be associated with MPA and MPO-AAV, regardless of the presence of ILD. These findings suggest that<jats:italic>TERT<\/jats:italic>and<jats:italic>DSP<\/jats:italic>may be novel susceptibility genes to MPA\/MPO-AAV and also that some susceptibility genes may be shared between IPF and MPA\/MPO-AAV.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s13075-020-02347-0","type":"journal-article","created":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T13:04:25Z","timestamp":1603112665000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA positive vasculitis in a Japanese population: a genetic association study"],"prefix":"10.1186","volume":"22","author":[{"given":"Aya","family":"Kawasaki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natsumi","family":"Namba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken-ei","family":"Sada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shigeto","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Nagasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahiko","family":"Sugihara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makio","family":"Kusaoi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoto","family":"Tamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiro","family":"Yamagata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Sumida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Hashimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoichi","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Makino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihiro","family":"Arimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayoshi","family":"Harigai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6776-5580","authenticated-orcid":false,"given":"Naoyuki","family":"Tsuchiya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,10,16]]},"reference":[{"key":"2347_CR1","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1159\/000442323","volume":"1","author":"H Xiao","year":"2016","unstructured":"Xiao H, Hu P, Falk RJ, Jennette JC. Overview of the pathogenesis of ANCA-associated vasculitis. Kidney Dis. 2016;1:205\u201315.","journal-title":"Kidney Dis"},{"key":"2347_CR2","doi-asserted-by":"publisher","first-page":"1916","DOI":"10.1093\/rheumatology\/ker205","volume":"50","author":"S Fujimoto","year":"2011","unstructured":"Fujimoto S, Watts RA, Kobayashi S, Suzuki K, Jayne DR, Scott DG, et al. Comparison of the epidemiology of anti-neutrophil cytoplasmic antibody-associated vasculitis between Japan and the U.K. Rheumatology. 2011;50:1916\u201320.","journal-title":"Rheumatology"},{"key":"2347_CR3","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1016\/j.autrev.2017.05.008","volume":"16","author":"MA Alba","year":"2017","unstructured":"Alba MA, Flores-Su\u00e1rez LF, Henderson AG, Xiao H, Hu P, Nachman PH, et al. Interstital lung disease in ANCA vasculitis. Autoimmun Rev. 2017;16:722\u20139.","journal-title":"Autoimmun Rev"},{"key":"2347_CR4","doi-asserted-by":"publisher","first-page":"325","DOI":"10.3899\/jrheum.130602","volume":"41","author":"S Furuta","year":"2014","unstructured":"Furuta S, Chaudhry AN, Hamano Y, Fujimoto S, Nagafuchi H, Makino H, et al. Comparison of phenotype and outcome in microscopic polyangiitis between Europe and Japan. J Rheumatol. 2014;41:325\u201333.","journal-title":"J Rheumatol"},{"key":"2347_CR5","doi-asserted-by":"publisher","first-page":"214","DOI":"10.1056\/NEJMoa1108735","volume":"367","author":"PA Lyons","year":"2012","unstructured":"Lyons PA, Rayner TF, Trvedi S, Holle JU, Watts RA, Jayne DR, et al. Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med. 2012;367:214\u201323.","journal-title":"N Engl J Med"},{"key":"2347_CR6","doi-asserted-by":"publisher","first-page":"2457","DOI":"10.1002\/art.38036","volume":"65","author":"G Xie","year":"2013","unstructured":"Xie G, Roshandel D, Sherva R, Monach PA, Lu EY, Kung T, et al. Association of granulomatosis with polyangiitis (Wegener\u2019s) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. Arthritis Rheum. 2013;65:2457\u201368.","journal-title":"Arthritis Rheum"},{"key":"2347_CR7","doi-asserted-by":"publisher","first-page":"1054","DOI":"10.1002\/art.40034","volume":"69","author":"PA Merkel","year":"2017","unstructured":"Merkel PA, Xie G, Monach PA, Ji X, Ciavatta DJ, Byun J, et al. Identification of functional and expression polymorphisms associated with risk for antineutrophil cytoplasmic autoantibody-associated vasculitis. Arthritis Rheumatol. 2017;69:1054\u201366.","journal-title":"Arthritis Rheumatol"},{"key":"2347_CR8","doi-asserted-by":"publisher","first-page":"5120","DOI":"10.1038\/s41467-019-12515-9","volume":"10","author":"PA Lyons","year":"2019","unstructured":"Lyons PA, Peters JE, Alberici F, Liley J, Coulson RMR, Astle W, et al. Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status. Nat Commun. 2019;10:5120.","journal-title":"Nat Commun"},{"key":"2347_CR9","first-page":"1534","volume":"30","author":"N Tsuchiya","year":"2003","unstructured":"Tsuchiya N, Kobayashi S, Kawasaki A, Kyogoku C, Arimura Y, Yoshida M, et al. Genetic background of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis: association of HLA-DRB1*0901 with microscopic polyangiitis. J Rheumatol. 2003;30:1534\u201340.","journal-title":"J Rheumatol"},{"key":"2347_CR10","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0154393","volume":"11","author":"A Kawasaki","year":"2016","unstructured":"Kawasaki A, Hasebe N, Hidaka M, Hirano F, Sada KE, Kobayashi S, et al. Protective role of HLA-DRB1*13:02 against microscopic polyangiitis and MPO-ANCA-positive vasculitides in a Japanese population: a case-control study. PLoS One. 2016;11:e0154393.","journal-title":"PLoS One"},{"key":"2347_CR11","doi-asserted-by":"publisher","first-page":"1503","DOI":"10.1056\/NEJMoa1013660","volume":"364","author":"MA Seibold","year":"2011","unstructured":"Seibold MA, Wise AL, Speer MC, Steele MP, Brown KK, Loyd JE, et al. A common MUC5B promoter polymorphism and pulmonary fibrosis. N Engl J Med. 2011;364:1503\u201312.","journal-title":"N Engl J Med"},{"key":"2347_CR12","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1038\/ng.2609","volume":"45","author":"TE Fingerlin","year":"2013","unstructured":"Fingerlin TE, Murphy E, Zhang W, Peljto AL, Brown KK, Steele MP, et al. Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. Nat Genet. 2013;45:613\u201320.","journal-title":"Nat Genet"},{"key":"2347_CR13","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1016\/S2213-2600(17)30387-9","volume":"5","author":"RJ Allen","year":"2017","unstructured":"Allen RJ, Porte J, Braybrooke R, Flores C, Fingerlin TE, Oldham JM, et al. Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study. Lancet Respir Med. 2017;5:869\u201380.","journal-title":"Lancet Respir Med"},{"key":"2347_CR14","doi-asserted-by":"publisher","first-page":"2209","DOI":"10.1056\/NEJMoa1801562","volume":"379","author":"PA Juge","year":"2018","unstructured":"Juge PA, Lee JS, Ebstein E, Furukawa H, Dobrinskikh E, Gazal S, et al. MUC5B promoter variant and rheumatoid arthritis with interstitial lung disease. N Engl J Med. 2018;379:2209\u201319.","journal-title":"N Engl J Med"},{"key":"2347_CR15","doi-asserted-by":"publisher","first-page":"1144","DOI":"10.1136\/annrheumdis-2018-214263","volume":"78","author":"N Namba","year":"2019","unstructured":"Namba N, Kawasaki A, Sada KE, Hirano F, Kobayashi S, Yamada H, et al. Association of MUC5B promoter polymorphism with interstitial lung disease in myeloperoxidase-antineutrophil cytoplasmic antibody-associated vasculitis. Ann Rheum Dis. 2019;78:1144\u20136.","journal-title":"Ann Rheum Dis"},{"key":"2347_CR16","doi-asserted-by":"publisher","first-page":"654","DOI":"10.1136\/jmg.2008.057356","volume":"45","author":"T Mushiroda","year":"2008","unstructured":"Mushiroda T, Wattanapokayakit S, Takahashi A, Nukiwa T, Kudoh S, Ogura T, et al. A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis. J Med Genet. 2008;45:654\u20136.","journal-title":"J Med Genet"},{"key":"2347_CR17","doi-asserted-by":"publisher","unstructured":"Nagpal N, Agarwal S. Telomerase RNA processing: implications for human health and disease. Stem Cells. 2020. doi:https:\/\/doi.org\/10.1002\/stem.3270.","DOI":"10.1002\/stem.3270"},{"key":"2347_CR18","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/B978-0-12-394311-8.00005-4","volume":"116","author":"AP Kowalczyk","year":"2013","unstructured":"Kowalczyk AP, Green KJ. Structure, function, and regulation of desmosomes. Prog Mol Biol Transl Sci. 2013;116:95\u2013118.","journal-title":"Prog Mol Biol Transl Sci"},{"key":"2347_CR19","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1136\/ard.2006.054593","volume":"66","author":"R Watts","year":"2007","unstructured":"Watts R, Lane S, Hanslik T, Hauser T, Hellmich B, Koldingsnes W, et al. Development and validation of a consensus methodology for the classification of the ANCA-associated vasculitides and polyarteritis nodosa for epidemiological studies. Ann Rheum Dis. 2007;66:222\u20137.","journal-title":"Ann Rheum Dis"},{"key":"2347_CR20","doi-asserted-by":"publisher","first-page":"R101","DOI":"10.1186\/ar4550","volume":"16","author":"KE Sada","year":"2014","unstructured":"Sada KE, Yamamura M, Harigai M, Fujii T, Dobashi H, Takasaki Y, et al. Classification and characteristics of Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis in a nationwide, prospective, inception cohort study. Arthritis Res Ther. 2014;16:R101.","journal-title":"Arthritis Res Ther"},{"key":"2347_CR21","doi-asserted-by":"publisher","first-page":"730","DOI":"10.3109\/14397595.2016.1140274","volume":"26","author":"KE Sada","year":"2016","unstructured":"Sada KE, Harigai M, Amano K, Atsumi T, Fujimoto S, Yuzawa Y, et al. Comparison of severity classification in Japanese patients with antineutrophil cytoplasmic antibody-associated vasculitis in a nationwide, prospective, inception cohort study. Mod Rheumatol. 2016;26:730\u20137.","journal-title":"Mod Rheumatol"},{"key":"2347_CR22","doi-asserted-by":"publisher","first-page":"D551","DOI":"10.1093\/nar\/gkx978","volume":"46","author":"S Tadaka","year":"2018","unstructured":"Tadaka S, Saigusa D, Motoike IN, Inoue J, Aoki Y, Shirota M, et al. jMorp: Japanese Multi Omics Reference Panel. Nucleic Acids Res. 2018;46:D551\u20137.","journal-title":"Nucleic Acids Res"},{"key":"2347_CR23","unstructured":"Japanese Multi Omics Reference Panel (jMorp). https:\/\/jmorp.megabank.tohoku.ac.jp\/202001. Accessed 11 Mar 2020."},{"key":"2347_CR24","doi-asserted-by":"publisher","DOI":"10.1136\/bmjresp-2014-000058","volume":"2","author":"N Kagiyama","year":"2015","unstructured":"Kagiyama N, Takayanagi N, Kanauchi T, Ishiguro T, Yanagisawa T, Sugita Y. Antineutrophil cytoplasmic antibody-positive conversion and microscopic polyangiitis development in patients with idiopathic pulmonary fibrosis. BMJ Open Respir Res. 2015;2:e000058.","journal-title":"BMJ Open Respir Res"},{"key":"2347_CR25","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1055\/s-0028-1101275","volume":"29","author":"RA Cohen","year":"2008","unstructured":"Cohen RA, Patel A, Green FH. Lung disease caused by exposure to coal mine and silica dust. Semin Respir Crit Care Med. 2008;29:651\u201361.","journal-title":"Semin Respir Crit Care Med"},{"key":"2347_CR26","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1007\/s10157-013-0830-8","volume":"17","author":"DGI Scott","year":"2013","unstructured":"Scott DGI, Watts RA. Epidemiology and clinical features of systemic vasculitis. Clin Exp Nephrol. 2013;17:607\u201310.","journal-title":"Clin Exp Nephrol"},{"key":"2347_CR27","doi-asserted-by":"publisher","first-page":"5173","DOI":"10.1158\/1078-0432.CCR-15-0009","volume":"21","author":"R Wei","year":"2015","unstructured":"Wei R, Cao L, Pu H, Wang H, Zheng Y, Niu X, et al. TERT polymorphism rs2736100-C is associated with EGFR mutation-positive non-small cell lung cancer. Clin Cancer Res. 2015;21:5173\u201380.","journal-title":"Clin Cancer Res"},{"key":"2347_CR28","doi-asserted-by":"publisher","first-page":"422","DOI":"10.1038\/ng.2528","volume":"45","author":"V Codd","year":"2013","unstructured":"Codd V, Nelson CP, Albrecht E, Mangino M, Deelen J, Buxton JL, et al. Identification of seven loci affecting mean telomere length and their association with disease. Nat Genet. 2013;45:422\u20137.","journal-title":"Nat Genet"},{"key":"2347_CR29","doi-asserted-by":"publisher","first-page":"13051","DOI":"10.1073\/pnas.0804280105","volume":"105","author":"JK Alder","year":"2008","unstructured":"Alder JK, Chen JJ, Lancaster L, Danoff S, Su SC, Cogan JD, et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A. 2008;105:13051\u20136.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2347_CR30","doi-asserted-by":"publisher","first-page":"2144","DOI":"10.1046\/j.1523-1755.2003.00037.x","volume":"63","author":"S Vogt","year":"2003","unstructured":"Vogt S, Iking-Konert C, Hug F, Andrassy K, H\u00e4nsch GM. Shortening of telomeres: evidence for replicative senescence of T cells derived from patients with Wegener's granulomatosis. Kidney Int. 2003;63:2144\u201351.","journal-title":"Kidney Int"},{"key":"2347_CR31","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S1016-8478(23)13173-6","volume":"19","author":"YH Sung","year":"2005","unstructured":"Sung YH, Choi YS, Cheong C, Lee HW. The pleiotropy of telomerase against cell death. Mol Cells. 2005;19:303\u20139.","journal-title":"Mol Cells"},{"key":"2347_CR32","doi-asserted-by":"publisher","first-page":"1729","DOI":"10.1046\/j.1523-1755.2001.0590051729.x","volume":"59","author":"L Harper","year":"2001","unstructured":"Harper L, Cockwell P, Adu D, Savage CO. Neutrophil priming and apoptosis in anti-neutrophil cytoplasmic autoantibody-associated vasculitis. Kidney Int. 2001;59:1729\u201338.","journal-title":"Kidney Int"},{"key":"2347_CR33","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1681\/ASN.2010080892","volume":"23","author":"A Schreiber","year":"2012","unstructured":"Schreiber A, Pham CTN, Hu Y, Schneider W, Luft FC, Kettritz R. Neutrophil serine proteases promote IL-1\u03b2 generation and injury in necrotizing crescentic glomerulonephritis. J Am Soc Nephrol. 2012;23:470\u201382.","journal-title":"J Am Soc Nephrol"},{"key":"2347_CR34","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1007\/s11926-012-0286-y","volume":"14","author":"R Cartin-Ceba","year":"2012","unstructured":"Cartin-Ceba R, Peikert T, Specks U. Pathogenesis of ANCA-associated vasculitis. Curr Rheumatol Rep. 2012;14:481\u201393.","journal-title":"Curr Rheumatol Rep"},{"key":"2347_CR35","doi-asserted-by":"crossref","unstructured":"Sun C, Molineros JE, Looger LL, Zhou XJ, Kim K, Okada Y, et.al. High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry. Nat Genet 2016;48:323\u2013330.","DOI":"10.1038\/ng.3496"},{"key":"2347_CR36","unstructured":"GTEx Portal. https:\/\/gtexportal.org\/home. Accessed 24 Apr 2020."},{"key":"2347_CR37","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1186\/s13045-017-0471-6","volume":"10","author":"SG Pai","year":"2017","unstructured":"Pai SG, Carneiro BA, Mota JM, Costa R, Leite CA, Barroso-Sousa R, et al. Wnt\/beta-catenin pathway: modulating anticancer immune response. J Hematol Oncol. 2017;10:101.","journal-title":"J Hematol Oncol"},{"key":"2347_CR38","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1016\/j.it.2018.08.006","volume":"39","author":"WJ Chae","year":"2018","unstructured":"Chae WJ, Bothwell ALM. Canonical and non-canonical Wnt signaling in immune cells. Trends Immunol. 2018;39:830\u201347.","journal-title":"Trends Immunol"},{"key":"2347_CR39","doi-asserted-by":"publisher","first-page":"2012","DOI":"10.1172\/JCI27751","volume":"116","author":"E Garcia-Gras","year":"2006","unstructured":"Garcia-Gras E, Lombardi R, Giocondo MJ, Willerson JT, Schneider MD, Khoury DS, et al. Suppression of canonical Wnt\/beta-catenin signaling by nuclear plakoglobin recapitulates phenotype of arrhythmogenic right ventricular cardiomyopathy. J Clin Invest. 2006;116:2012\u201321.","journal-title":"J Clin Invest"},{"key":"2347_CR40","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1186\/s12872-020-01369-5","volume":"20","author":"X Lin","year":"2020","unstructured":"Lin X, Ma Y, Cai Z, Wang Q, Wang L, Huo Z, et al. Next-generation sequencing identified novel desmoplakin frame-shift variant in patients with arrhythmogenic cardiomyopathy. BMC Cardiovasc Disord. 2020;20:74.","journal-title":"BMC Cardiovasc Disord"},{"key":"2347_CR41","doi-asserted-by":"publisher","first-page":"9392132","DOI":"10.1155\/2016\/9392132","volume":"2016","author":"J Shi","year":"2016","unstructured":"Shi J, Chi S, Xue J, Yang J, Li F, Liu X. Emerging role and therapeutic implication of Wnt signaling pathways in autoimmune diseases. J Immunol Res. 2016;2016:9392132.","journal-title":"J Immunol Res"}],"container-title":["Arthritis Research &amp; Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13075-020-02347-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13075-020-02347-0\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13075-020-02347-0.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T02:46:07Z","timestamp":1723776367000},"score":1,"resource":{"primary":{"URL":"https:\/\/arthritis-research.biomedcentral.com\/articles\/10.1186\/s13075-020-02347-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,16]]},"references-count":41,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["2347"],"URL":"https:\/\/doi.org\/10.1186\/s13075-020-02347-0","relation":{},"ISSN":["1478-6362"],"issn-type":[{"value":"1478-6362","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,16]]},"assertion":[{"value":"23 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 October 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This study was reviewed and approved by the Ethics Committees of University of Tsukuba Faculty of Medicine (No. 180, 227, 268), Tokyo Women\u2019s Medical University, Tokyo Medical and Dental University, and all other institutes participating in this study, and was conducted in accordance with the principles of the Declaration of Helsinki. Informed consent was obtained from all participants.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Dr. Sada has received speaker\u2019s honoraria from Chugai Pharmaceutical Co. Ltd.Dr. Hirano has received research grants and\/or speaker\u2019s honoraria from Chugai Pharmaceutical Co. Ltd., Ono Pharmaceuticals, CSL Behring, Towa Pharmaceutical Co. Ltd., Abbvie Japan Co. Ltd., Japan Blood Products Organization, Ayumi Pharmaceutical Co., Nippon Kayaku Co. Ltd., Astellas Pharma Inc., Sumitomo Dainippon Pharma, and UCB Japan.Dr. Nagasaka has received speaker\u2019s honoraria from Bristol-Myers Squibb Co. Ltd., Chugai Pharmaceutical Co. Ltd., and Teijin Pharma Ltd.Dr. Makino is a consultant for AbbVie, Teijin, and Boehringer-Ingelheim.Dr. Harigai has received research grants and\/or honoraria from AbbVie Japan Co. Ltd., Bristol-Myers Squibb K.K., Chugai Pharmaceutical Co. Ltd., Eisai Co. Ltd., Mitsubishi Tanabe Pharma Co., Ono Pharmaceutical Co. Ltd., Taisho Toyama Pharmaceutical Co. Ltd., Ayumi Pharmaceutical Co. Ltd., Takeda Pharmaceutical Co. Ltd., Teijin Pharma Ltd., and Pfizer Japan Inc. Dr. Harigai serves as a consultant for Bristol-Myers Squibb K.K., Chugai Pharmaceutical Co. Ltd., CIMIC Co. Ltd., Kissei Pharmaceutical Co. Ltd., Ono Pharmaceutical Co. Ltd., and Pfizer Japan Inc.Dr. Tsuchiya has received research fund from H.U. Group Research Institute G.K. for a collaborative research unrelated to this study, and research grants from Bristol-Myers Squibb, 2015 Japan College of Rheumatology Award from Japan College of Rheumatology, 2017 Novartis Rheumatology Award from Japan Rheumatism Association with research funding, and speaker\u2019s honoraria from Teijin.Other authors declare no potential conflict of interest.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"246"}}