{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T12:59:13Z","timestamp":1760014753598},"reference-count":56,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,11]],"date-time":"2014-01-11T00:00:00Z","timestamp":1389398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2014,5]]},"abstract":"Abstract<\/jats:title>Aim<\/jats:title>Genetics is suggested to play a role in the development of B<\/jats:styled-content>eh\u00e7et's disease (BD<\/jats:styled-content>). Shared phenotipic features requires an approach to differential diagnosis from periodic febrile syndromes. We planned to study for mevalonate kinase (MVK<\/jats:styled-content>) as a candidate for a susceptibility gene for B<\/jats:styled-content>eh\u00e7et's disease.<\/jats:p><\/jats:sec>Method<\/jats:title>Consecutive B<\/jats:styled-content>eh\u00e7et patients and apperently healthy subjects were included. Severity score of B<\/jats:styled-content>eh\u00e7et disease was calculated. Genotyping of mevalonate kinase gene was performed by polymerase chain reaction\/sequence\u2010based typing technique.<\/jats:p><\/jats:sec>Results<\/jats:title>Fifty BD<\/jats:styled-content> patients (median age: 38.30\u00a0\u00b1\u00a011.06\u00a0years) and 51 controls (median age: 33.88\u00a0\u00b1\u00a012.47 years) were recruited. Three types of mutations have been found: first, a single nucleotide polymorphism (SNP<\/jats:styled-content>) c.769\u201038C<\/jats:styled-content>>T<\/jats:styled-content> (rs35191208) in 21 of 50 BD<\/jats:styled-content> patients and in 15 of 51 controls. Both groups were comparable for the frequency of c.769\u201038C<\/jats:styled-content>>T<\/jats:styled-content> (P<\/jats:italic>\u00a0>\u00a00.05). In all of the cases with c.769\u201038C<\/jats:styled-content>>T<\/jats:styled-content>, a second SNP<\/jats:styled-content>, c885+24G<\/jats:styled-content>>A<\/jats:styled-content> (rs2270374) was also present (previously reported to be in linkage disequilibrium with the first SNP<\/jats:styled-content>). A third SNP<\/jats:styled-content>, c.769\u20107T<\/jats:styled-content>>G<\/jats:styled-content> (rs104895331) was found in three of 50 BD<\/jats:styled-content> patients and in one of the control group. We found this SNP<\/jats:styled-content> together with c769\u201038C<\/jats:styled-content>>T<\/jats:styled-content> and c.885+24G<\/jats:styled-content>>A<\/jats:styled-content>. The neurological involvement was found to be more frequent in the BD<\/jats:styled-content> patients with c.769\u20103C<\/jats:styled-content>>T<\/jats:styled-content> when compared to the BD<\/jats:styled-content> patients without this polymorphism (P<\/jats:italic>\u00a0=\u00a00.012).<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Our results suggested that the effects of MVK<\/jats:styled-content> mutations in B<\/jats:styled-content>eh\u00e7et's disease could be an additional genetic susceptibility factor for the patients with neurological involvement. However, these results need confirmation in larger study populations and in different ethnic groups.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1756-185x.12243","type":"journal-article","created":{"date-parts":[[2014,1,11]],"date-time":"2014-01-11T07:14:48Z","timestamp":1389424488000},"page":"435-443","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mevalonate kinase gene mutations and their clinical correlations in B<\/scp>eh\u00e7et's disease"],"prefix":"10.1111","volume":"17","author":[{"given":"Didem","family":"Arslan Ta\u015f","sequence":"first","affiliation":[{"name":"Rheumatology\u2010Immunology Department Faculty of Medicine Cukurova University Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eren","family":"Erken","sequence":"additional","affiliation":[{"name":"Rheumatology\u2010Immunology Department Faculty of Medicine Cukurova University Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatih","family":"Yildiz","sequence":"additional","affiliation":[{"name":"Rheumatology\u2010Immunology Department Faculty of Medicine Cukurova University Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzan","family":"Dink\u00e7i","sequence":"additional","affiliation":[{"name":"Rheumatology\u2010Immunology Department Faculty of Medicine Cukurova University Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hakan","family":"Sakalli","sequence":"additional","affiliation":[{"name":"Internal Medicine and Medical Oncology Department Medline Hospital Adana Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,1,11]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"1151","article-title":"Uber residivierende aphtose, durch ein virus verusachte geschvurde am mund, am augen und an der genitalen","volume":"105","author":"Beh\u00e7et H","year":"1937","journal-title":"Dermatol Wochenschr"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrrheum.2012.156"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.60.11.996"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/09273948.2011.634978"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12016-012-8319-x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/0-306-48382-3_46"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1992.tb04888.x"},{"key":"e_1_2_9_9_1","first-page":"187","article-title":"The ICAM\u20101 (469 T\/C) gene polymorphism but not (241\u00a0G\/A) is associated with Behcet`s disease in the Lebanese population","volume":"11","author":"Chmaisse HN","year":"2006","journal-title":"Neurosciences (Riyadh)"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07348.x"},{"key":"e_1_2_9_11_1","first-page":"1785","article-title":"Vascular endothelial growth factor gene polymorphisms in Beh\u00e7et's disease","volume":"31","author":"Salvarani C","year":"2004","journal-title":"J Rheumatol"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1744-313X.2007.00655.x"},{"issue":"67","key":"e_1_2_9_13_1","first-page":"3","article-title":"Genome\u2010wide association studies in Beh\u00e7et's disease: expectations and promises","volume":"29","author":"G\u00fcl A","year":"2011","journal-title":"Clin Exp Rheumatol"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.625"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.624"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1135245"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/511051"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/ar2695"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(84)92505-4"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/9691"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/9696"},{"key":"e_1_2_9_22_1","unstructured":"www.hids.net. 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