{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T06:11:55Z","timestamp":1696399915980},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,9,16]],"date-time":"2013-09-16T00:00:00Z","timestamp":1379289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Immunogenetics"],"published-print":{"date-parts":[[2014,4]]},"abstract":"Summary<\/jats:title>Deficiency in some complement factors is known to cause both systemic lupus erythematosus (SLE<\/jats:styled-content>) and dermatomyositis (DM<\/jats:styled-content>). Mannose\u2010binding lectin (MBL<\/jats:styled-content>) is a recognition molecule of the lectin pathway, and its low levels are reported to influence some autoimmune diseases. Furthermore, MBL<\/jats:styled-content>2<\/jats:italic> polymorphisms have been described associated with low MBL<\/jats:styled-content> serum levels due to impaired MBL<\/jats:styled-content> structure and function. This is a pilot study to investigate the role of MBL<\/jats:styled-content>2<\/jats:italic>\u2010550G<\/jats:styled-content>\/C<\/jats:styled-content> (H<\/jats:styled-content>\/L<\/jats:styled-content>), \u2010221G<\/jats:styled-content>\/C<\/jats:styled-content> (Y<\/jats:styled-content>\/X<\/jats:styled-content>), Arg52C<\/jats:styled-content>ys (D<\/jats:styled-content>), G<\/jats:styled-content>ly54A<\/jats:styled-content>sp (B), G<\/jats:styled-content>ly57G<\/jats:styled-content>lu (C) polymorphisms and MBL<\/jats:styled-content> serum levels as a risk factor for a development of adult DM<\/jats:styled-content> and SLE<\/jats:styled-content> in B<\/jats:styled-content>ulgarian patients. None of the studied MBL<\/jats:styled-content>2<\/jats:italic> polymorphisms appeared associated with the diseases investigated. However, we have found an increased OR<\/jats:styled-content> of MBL<\/jats:styled-content>2<\/jats:italic>\u2010221XY<\/jats:styled-content> genotype in the patients with SLE<\/jats:styled-content> (OR<\/jats:styled-content> 1.64, 95%CI<\/jats:styled-content> 0.77\u20133.52). MBL<\/jats:styled-content>2<\/jats:italic> polymorphisms seemed to affect MBL<\/jats:styled-content> serum levels and to be associated with the clinical features although none of the associations remained statistically significant after B<\/jats:styled-content>onferroni correction. The\u2010550L allele showed an association with electromyography findings in patients with DM<\/jats:styled-content>. The\u2010221XY<\/jats:styled-content> genotype was associated with photosensitivity in patients with SLE<\/jats:styled-content>. The 54AB<\/jats:styled-content> genotype showed an association with malar rash in patients with SLE<\/jats:styled-content>, but it appeared decreased among SLE<\/jats:styled-content> patients with ANA<\/jats:styled-content>. In conclusion, our results suggest that the MBL<\/jats:styled-content>2<\/jats:italic> polymorphisms have rather a disease modifying role and they are not associated with the disease susceptibility in adult DM<\/jats:styled-content> and SLE<\/jats:styled-content> among Bulgarian patients.<\/jats:p>","DOI":"10.1111\/iji.12093","type":"journal-article","created":{"date-parts":[[2013,10,8]],"date-time":"2013-10-08T13:39:44Z","timestamp":1381239584000},"page":"119-125","source":"Crossref","is-referenced-by-count":6,"title":["MBL<\/scp>2<\/i> polymorphisms \u2013 manifestations in Bulgarian patients with adult dermatomyositis and systemic lupus erythematosus"],"prefix":"10.1111","volume":"41","author":[{"given":"M.","family":"Hristova","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory and Clinical Immunology Medical University\u2010Sofia Sofia 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