The role of vitamin D receptor gene polymorphisms in the pathogenesis of Behcet's disease: A case-control study in Turkish population

Dal N. E., Cerci P., ÖLMEZ Ü., KESKİN G.

ANNALS OF HUMAN GENETICS, vol.83, no.3, pp.177-186, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 83 Issue: 3
  • Publication Date: 2019
  • Doi Number: 10.1111/ahg.12301
  • Journal Name: ANNALS OF HUMAN GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.177-186
  • Keywords: Behcet's disease, Turkish population, vitamin D receptor gene polymorphisms, vitamin D receptor, RHEUMATOID-ARTHRITIS, 1,25-DIHYDROXYVITAMIN D-3, T-CELLS, SUSCEPTIBILITY, ASSOCIATIONS, EXPRESSION, MONOCYTES
  • Ankara University Affiliated: Yes

Abstract

Background Behcet'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.