{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T07:49:36Z","timestamp":1790322576008,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T00:00:00Z","timestamp":1549497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ankara University Scientific Research Projects Coordination Unit","award":["16H0230003"],"award-info":[{"award-number":["16H0230003"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Beh\u00e7et's\n disease (BD) is an inflammatory disorder characterized by oral aphthous lesions, uveitis, and genital ulcerations. The vitamin D receptor (VDR) has a crucial role in the pathogenesis of this disease because it mediates the functions of vitamin D in the immune system. Alterations of VDR expression related to polymorphic alleles of the VDR gene may play a pathogenic role in BD and BD's clinical presentations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>150 BD patients and 150 healthy controls were included and genotyping was carried out by polymerase chain reaction\/restriction fragment length polymorphism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Significant differences between patients and controls in rs1544410, rs2228570, and rs731236 genotypes were observed (respectively, <jats:italic>p<\/jats:italic> = 0.04, <jats:italic>p<\/jats:italic> = 0.007, <jats:italic>p<\/jats:italic> = 0.012). The clinical characteristics of BD patients were evaluated and patients with ocular lesions had a higher percentage of rs1544410 A alleles (<jats:italic>p<\/jats:italic> = 0.004), and patients with oral aphthous lesions, a positive pathergy tests, and arthritis had more rs2228570 C alleles than patients without these clinical findings (respectively, <jats:italic>p<\/jats:italic>\u00a0&lt;\u00a00.001, <jats:italic>p<\/jats:italic> = 0.021, <jats:italic>p<\/jats:italic> = 0.045).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>VDR gene polymorphisms may possibly have a role in the pathogenesis of BD through their effects on VDR expression and may be associated with the increased risk of several clinical findings.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12301","type":"journal-article","created":{"date-parts":[[2019,2,7]],"date-time":"2019-02-07T13:43:50Z","timestamp":1549547030000},"page":"177-186","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["The role of vitamin D receptor gene polymorphisms in the pathogenesis of Beh\u00e7et's disease: A case\u2010control study in Turkish population"],"prefix":"10.1111","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4731-9265","authenticated-orcid":false,"given":"Nazli Ecem","family":"Dal","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology, School of Medicine Ankara University  Ankara Turkey"},{"name":"Department of Molecular Medicine, Institute of Health Sciences Dokuz Eylul University  Izmir 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