{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T20:58:50Z","timestamp":1793393930702,"version":"4.5.0"},"reference-count":42,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int Arch Allergy Immunol"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background:<\/i><\/b> Data on the genetic predisposition to mastocytosis are scarce. The aim of this work was to study the association of single nucleotide polymorphisms of Toll-like receptor (<i>TLR<\/i>)<i>-2<\/i>, <i>TLR-4<\/i>, and <i>TLR-9<\/i> genes in Polish patients with mastocytosis. <b><i>Objectives:<\/i><\/b> The study comprised 137 patients with mastocytosis (102 cutaneous [60 children and 42 adults] and 35 systemic cases); 171 disease-free individuals were used as controls. <b><i>Method:<\/i><\/b> The frequency of polymorphisms R753Q (<i>rs5743708<\/i>)<i><\/i> of <i>TLR-2<\/i>, 896 A&#x3e;G (<i>rs496790<\/i>)<i><\/i> of <i>TLR-4<\/i>, and \u20131237C&#x3e;T (<i>rs5743836<\/i>)<i><\/i> of <i>TLR-9<\/i> genes were determined with the use of the amplification refractory mutation system polymerase chain reaction method. <b><i>Results:<\/i><\/b> It was found that the R753Q <i>TLR-2<\/i> gene polymorphism was significantly more frequent in patients with mastocytosis in comparison to healthy controls (<i>p<\/i> = 0.037) and in the group of SM versus controls (<i>p<\/i> = 0.0076). The presence in the genotype 753Q variant of <i>TLR-2<\/i> gene increased the risk of mastocytosis more than 2-fold (OR 2.51; <i>p<\/i> = 0.04), and the risk of SM more than 4-fold (OR 4.22; <i>p<\/i> = 0.01). <i>TLR-4<\/i> and <i>TLR-9<\/i> polymorphisms were not associated with mastocytosis. <b><i>Conclusions:<\/i><\/b> Our results suggest that the R753Q polymorphism of the <i>TLR-2<\/i> gene may be involved in the pathogenesis of mastocytosis.<\/jats:p>","DOI":"10.1159\/000489343","type":"journal-article","created":{"date-parts":[[2018,6,15]],"date-time":"2018-06-15T21:01:33Z","timestamp":1529096493000},"page":"80-86","source":"Crossref","is-referenced-by-count":9,"title":["The Possible Role of Gene Variant Coding Nonfunctional Toll-Like Receptor 2 in the Pathogenesis of Mastocytosis"],"prefix":"10.1159","volume":"177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6286-0693","authenticated-orcid":false,"given":"Bogus\u0142aw","family":"Nedoszytko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Lange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna\u00a0","family":"Renke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Niedoszytko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Zab\u0142otna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"Gle\u0144","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4768-1387","authenticated-orcid":false,"given":"Roman","family":"Nowicki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,6,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.iac.2014.02.003"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2210"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24490"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejphar.2017.01.014"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2012.09.003"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ni.1863"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nri3151"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.cyto.2008.07.010"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.180.5.3399"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm307"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0112989"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1039\/c6ib00097e"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2012.00185"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1159\/000218115"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1039\/c6ib00097e"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/76048"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1080\/08916934.2016.1261835"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/cei.12888"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0145302"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2015.00312"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.aller.2014.11.002"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1177\/03946320110240S408"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1111\/j.1398-9995.2008.01721.x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2007.11.029"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.5114\/ada.2017.65628"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-387664-5.00003-0"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1172\/JCI14704"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1003440"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1111\/pai.12538"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2016.01.037"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1016\/j.imbio.2015.09.004"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.250476497"},{"key":"ref33"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.09.008"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.4049\/jimmunol.175.7.4641"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1038\/ni.1792"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.01.022"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1002\/eji.200636651"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1038\/nature06096"},{"key":"ref40","doi-asserted-by":"publisher","DOI":"10.1586\/1744666X.2016.1114885"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2003.12.374"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1038\/srep43165"}],"container-title":["International 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