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The role of vitamin D receptor gene polymorphisms in the pathogenesis of Behçet's disease: A case‐control study in Turkish population
Author(s) -
Dal Nazli Ecem,
Cerci Pamir,
Olmez Umit,
Keskin Goksal
Publication year - 2019
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12301
Subject(s) - pathogenesis , behcet's disease , turkish population , turkish , genetics , disease , case control study , gene , medicine , calcitriol receptor , biology , immunology , genotype , philosophy , linguistics
Abstract Background Behçet's 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. Methods 150 BD patients and 150 healthy controls were included and genotyping was carried out by polymerase chain reaction/restriction fragment length polymorphism. Results Significant differences between patients and controls in rs1544410, rs2228570, and rs731236 genotypes were observed (respectively, p = 0.04, p = 0.007, p = 0.012). The clinical characteristics of BD patients were evaluated and patients with ocular lesions had a higher percentage of rs1544410 A alleles ( p = 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, p < 0.001, p = 0.021, p = 0.045). Conclusion 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.