{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:04:59Z","timestamp":1777392299449,"version":"3.51.4"},"reference-count":50,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T00:00:00Z","timestamp":1581638400000},"content-version":"vor","delay-in-days":44,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005795","name":"Chang Gung Memorial Hospital, Linkou","doi-asserted-by":"publisher","award":["CIRPG3I0021"],"award-info":[{"award-number":["CIRPG3I0021"]}],"id":[{"id":"10.13039\/501100005795","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005795","name":"Chang Gung Memorial Hospital, Linkou","doi-asserted-by":"publisher","award":["CIRPG3I0041"],"award-info":[{"award-number":["CIRPG3I0041"]}],"id":[{"id":"10.13039\/501100005795","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005382","name":"National Yang-Ming University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005382","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010101","name":"Taichung Veterans General Hospital","doi-asserted-by":"publisher","award":["TCVGH-YM1030201"],"award-info":[{"award-number":["TCVGH-YM1030201"]}],"id":[{"id":"10.13039\/501100010101","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["108-2320-B-182A-023-MY3"],"award-info":[{"award-number":["108-2320-B-182A-023-MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["105-2628-B-010-007-MY3"],"award-info":[{"award-number":["105-2628-B-010-007-MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["102-2314-B-010-014-MY3"],"award-info":[{"award-number":["102-2314-B-010-014-MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004663","name":"Ministry of Science and Technology, Taiwan","doi-asserted-by":"publisher","award":["NSC-101-2314-B-010-030-MY3"],"award-info":[{"award-number":["NSC-101-2314-B-010-030-MY3"]}],"id":[{"id":"10.13039\/501100004663","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Immunology Research"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>\n                    Adult\u2010onset Still\u2019s disease (AOSD) is a rare and inflammatory disorder characterized by spiking fever, rash, arthritis, and multisystemic involvement. HLA has been shown to be associated with AOSD; however, it could not explain the innate immunity and autoinflammatory characteristics of AOSD. To assess the genetic susceptibility of AOSD, we conducted a genome\u2010wide association study (GWAS) on a cohort of 70 AOSD cases and 688 controls following a replication study of 36 cases and 200 controls and meta\u2010analysis. The plasma concentrations of associated gene product were determined. The GWAS, replication, and combined sample analysis confirmed that SNP rs11102024 on 5\u2009\n                    <jats:sup>\u2032<\/jats:sup>\n                    \u2010upstream of\n                    <jats:italic>CSF1<\/jats:italic>\n                    encoding macrophage colony\u2010stimulating factor (M\u2010CSF) was associated with AOSD (\n                    <jats:italic>P<\/jats:italic>\n                    = 1.20 \u00d7 10\n                    <jats:sup>-8<\/jats:sup>\n                    , OR (95% CI): 3.28 (2.25~4.79)). Plasma levels of M\u2010CSF increased in AOSD patients (\n                    <jats:italic>n<\/jats:italic>\n                    = 82, median: 9.31\u2009pg\/mL), particularly in the cases with activity score \u2265 6 (\n                    <jats:italic>n<\/jats:italic>\n                    = 42, 10.94\u2009pg\/mL), compared to the healthy donors (\n                    <jats:italic>n<\/jats:italic>\n                    = 68, 5.31\u2009pg\/mL) (\n                    <jats:italic>P<\/jats:italic>\n                    &lt; 0.0001). Patients carrying rs11102024TT genotype had higher M\u2010CSF levels (median: 20.28\u2009pg\/mL) than those with AA genotype (6.82\u2009pg\/mL) (\n                    <jats:italic>P<\/jats:italic>\n                    &lt; 0.0001) or AT genotype (11.61\u2009pg\/mL) (\n                    <jats:italic>P<\/jats:italic>\n                    = 0.027). Patients with systemic pattern outcome were associated with elevated M\u2010CSF and frequently observed in TT carriers. Our data suggest that genetic variants near\n                    <jats:italic>CSF1<\/jats:italic>\n                    are associated with AOSD and the rs11102024 T allele links to higher M\u2010CSF levels and systemic outcome. These results provide a promising initiative for the early intervention and therapeutic target of AOSD. Further investigation is needed to have better understandings and the clinical implementation of genetic variants nearby\n                    <jats:italic>CSF1<\/jats:italic>\n                    in AOSD.\n                  <\/jats:p>","DOI":"10.1155\/2020\/8640719","type":"journal-article","created":{"date-parts":[[2020,2,14]],"date-time":"2020-02-14T18:32:44Z","timestamp":1581705164000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic Association and Expression Correlation between Colony\u2010Stimulating Factor 1 Gene Encoding M\u2010CSF and Adult\u2010Onset Still\u2019s Disease"],"prefix":"10.1155","volume":"2020","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7593-3065","authenticated-orcid":false,"given":"Yi-Ming","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Ting","family":"Hung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wan-Chun","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chia-Wei","family":"Hsieh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Hung","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joung-Liang","family":"Lan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5097-7376","authenticated-orcid":false,"given":"Ning-Rong","family":"Gung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Shien","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-2235","authenticated-orcid":false,"given":"Der-Yuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6531-5538","authenticated-orcid":false,"given":"Shuen-Iu","family":"Hung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,2,14]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.30.2.121"},{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2008.08.006"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1080\/03009740510026616"},{"key":"e_1_2_11_4_2","doi-asserted-by":"publisher","DOI":"10.3109\/14397595.2014.974881"},{"key":"e_1_2_11_5_2","first-page":"2402","article-title":"Chronic arthritis and carpo:metacarpal ratio in Japanese patients with adult Still\u2019s disease","volume":"25","author":"Fujii T.","year":"1998","journal-title":"The Journal of Rheumatology"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000000021"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.12659\/AJCR.901846"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/480373"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2014.01.058"},{"key":"e_1_2_11_10_2","first-page":"33","article-title":"Treatment of adult-onset Still\u2019s disease: a review","volume":"11","author":"Jamilloux Y.","year":"2014","journal-title":"Therapeutics and Clinical Risk Management"},{"key":"e_1_2_11_11_2","doi-asserted-by":"publisher","DOI":"10.3109\/07853890.2014.971052"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2017.02.021"},{"key":"e_1_2_11_13_2","doi-asserted-by":"publisher","DOI":"10.1080\/1744666X.2018.1533403"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41584-018-0081-x"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.47.9.764"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(200103)44:3<550::AID-ANR103>3.0.CO;2-5"},{"key":"e_1_2_11_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.gene.6363922"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780280207"},{"key":"e_1_2_11_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780290316"},{"key":"e_1_2_11_20_2","first-page":"489","article-title":"Association between HLA-DR B1 and clinical features of adult onset Still\u2019s disease in Korea","volume":"21","author":"Joung C. 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