{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T18:11:15Z","timestamp":1781115075098,"version":"3.54.1"},"reference-count":20,"publisher":"The Journal of Rheumatology","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p>To investigate the possible association between polymorphisms of the mannose-binding lectin gene (<jats:italic>MBL2<\/jats:italic>) and susceptibility to juvenile idiopathic arthritis (JIA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p>We performed a case-control association study including 118 Hungarian patients with JIA and 118 sex-matched healthy controls. <jats:italic>MBL<\/jats:italic> genotyping for the 3 mutant structural alleles at codons 54 (B), 57 (C), and 52 (D) in exon 1 and the promoter polymorphisms at position \u2212550 (HL) and \u2212221 (YX) were carried out by real-time PCR allelic discrimination. Serum level of MBL was determined by ELISA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p>Variant allele frequencies of both codon 52 and 57 polymorphisms in the <jats:italic>MBL2<\/jats:italic> gene were significantly overrepresented in JIA (p = 0.001 and p = 0.004, respectively). The frequency of low <jats:italic>MBL<\/jats:italic> genotypes (XA\/XA, YA\/YO, XA\/YO, and YO\/YO) in JIA was higher than that in healthy controls (p = 0.001). Serum MBL concentrations were found to be significantly lower in JIA patients versus control subjects (p = 0.001). The 2 promoter polymorphisms and codon 54 SNP of the <jats:italic>MBL2<\/jats:italic> gene were not associated with JIA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p>Our findings suggest that genetically determined low MBL levels may predispose children to JIA in a Hungarian population. These data warrant further research to investigate the role of the lectin-dependent complement system in the pathogenesis of JIA.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.080681","type":"journal-article","created":{"date-parts":[[2009,4,2]],"date-time":"2009-04-02T22:07:36Z","timestamp":1238710056000},"page":"843-847","source":"Crossref","is-referenced-by-count":13,"title":["Structural Polymorphisms in the Mannose-Binding Lectin Gene Are Associated with Juvenile Idiopathic Arthritis"],"prefix":"10.3899","volume":"36","author":[{"suffix":"Jr","given":"P\u00c9TER","family":"GERGELY","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BORB\u00c1LA","family":"PAZ\u00c1R","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZSOLT B.","family":"NAGY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00cdMEA","family":"GOMBOS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KATALIN","family":"RAJCZY","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ZSOLT","family":"BALOGH","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"ILONA","family":"ORB\u00c1N","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"KRISZTINA","family":"SEVCIC","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GYULA","family":"PO\u00d3R","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2262","published-online":{"date-parts":[[2009,3,13]]},"reference":[{"key":"2018112909191207000_36.4.843.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)60363-8"},{"key":"2018112909191207000_36.4.843.2","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1097\/01.bor.0000240359.30303.e4","article-title":"Genomic progress in pediatric arthritis: recent work and future goals","volume":"18","author":"Phelan","year":"2006","journal-title":"Curr Opin Rheumatol"},{"key":"2018112909191207000_36.4.843.3","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1155\/2006\/373620","article-title":"A comprehensive candidate gene study on bronchial asthma and juvenile idiopathic arthritis","volume":"22","author":"Schubert","year":"2006","journal-title":"Dis Markers"},{"key":"2018112909191207000_36.4.843.4","doi-asserted-by":"publisher","DOI":"10.1097\/RHU.0b013e318156b9e3"},{"key":"2018112909191207000_36.4.843.5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108538"},{"key":"2018112909191207000_36.4.843.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-5890(03)00155-X"},{"key":"2018112909191207000_36.4.843.7","first-page":"629","article-title":"Mannan binding lectin in rheumatoid arthritis. 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