{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T13:54:29Z","timestamp":1780667669669,"version":"3.54.1"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Public Welfare Scientific Research Project of China","award":["201402012"],"award-info":[{"award-number":["201402012"]}]},{"name":"CAMS Central Public Welfare Scientific Research Institute Basal Research Expenses to HW","award":["2016ZX310182-1"],"award-info":[{"award-number":["2016ZX310182-1"]}]},{"DOI":"10.13039\/501100019018","name":"CAMS Initiative for Innovative Medicine","doi-asserted-by":"crossref","award":["2016-I2M-1-008"],"award-info":[{"award-number":["2016-I2M-1-008"]}],"id":[{"id":"10.13039\/501100019018","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100010270","name":"the Capital Health Research and Development of Special","doi-asserted-by":"crossref","award":["2016-2-40114"],"award-info":[{"award-number":["2016-2-40114"]}],"id":[{"id":"10.13039\/501100010270","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Pediatr Rheumatol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Systemic juvenile idiopathic arthritis (sJIA) has many clinical features overlapping with familial Mediterranean fever (FMF), which is caused by mutations in <jats:italic>MEFV<\/jats:italic> gene. And FMF patients were easily misdiagnosed as sJIA in China. So we speculate that <jats:italic>MEFV<\/jats:italic> is critical genetic background for sJIA and influences patients\u2019 severity. In this study, we aim to figure out whether <jats:italic>MEFV<\/jats:italic> mutations are risk factor for the occurrence of sJIA and to study the association of <jats:italic>MEFV<\/jats:italic> mutations with disease severity of sJIA patients.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Methods<\/jats:title>\n<jats:p>The present study includes 57 sJIA children and 2573 healthy controls. Odd ratio with 95% confidence interval based on allelic frequency of <jats:italic>MEFV<\/jats:italic> mutations or variants was used to evaluate their contribution to sJIA susceptibility. Meta-analysis was then performed to reach comprehensive conclusion. All included sJIA patients were grouped by presence and number of <jats:italic>MEFV<\/jats:italic> mutations. Clinical data and indicators of disease severity were compared among different groups. Multiple linear regression method was used to find out whether the number of <jats:italic>MEFV<\/jats:italic> variants is associated with the severity of sJIA. Kaplan-Meier curves and log rank test were used to estimate the probability of the first relapse.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>The <jats:italic>MEFV<\/jats:italic> mutations of our subjects predominantly existed in exons 2 and 3. No significant difference was found in allelic frequency between sJIA children and healthy controls. Meta-analysis demonstrated that p.M694V\/I was a risk factor for sJIA (pooled OR: 7.13, 95% CI: 3.01\u201316.89). The relative period of activity was significantly lower in the one mutation group than those with more than one mutation (<jats:italic>p<\/jats:italic>\u2009=\u20090.0194). However, no relevance was found in multiple linear regression models.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The mutation p.M694V\/I in <jats:italic>MEFV<\/jats:italic> might be a risk factor for sJIA. SJIA patients carrying more than one heterozygous mutation in <jats:italic>MEFV<\/jats:italic> tend to be more severe than those containing only one, but studies in other cohort of patients need to be performed to validate it.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12969-020-00427-8","type":"journal-article","created":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T12:04:00Z","timestamp":1589285040000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The association of MEFV gene mutations with the disease risk and severity of systemic juvenile idiopathic arthritis"],"prefix":"10.1186","volume":"18","author":[{"given":"Linqing","family":"Zhong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingsheng","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Gou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongxun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiannan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanqing","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qijiao","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Song","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,5,12]]},"reference":[{"issue":"4","key":"427_CR1","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.berh.2018.02.002","volume":"31","author":"M Pardeo","year":"2017","unstructured":"Pardeo M, Bracaglia C, De Benedetti F. 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The healthy controls signed informed consents form to their company and their data is open to the researchers who worked with them.","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":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"38"}}