Vitamin D receptor gene polymorphisms in multiple sclerosis disease: A case-control study

ÇAKINA S., Ocak O., Ozkan A., YÜCEL S., Karaman H. I. O.

REVISTA ROMANA DE MEDICINA DE LABORATOR, vol.26, no.4, pp.489-495, 2018 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.2478/rrlm-2018-0028
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.489-495
  • Keywords: multiple sclerosis, vitamin D, vitamin D receptor (VDR) gene polymorphism, METAANALYSIS, ASSOCIATION, RISK, VDR
  • Çanakkale Onsekiz Mart University Affiliated: Yes


Multiple sclerosis (MS) is a common neurologic disorder that is a chronic inflammatory, demyelinating, and neurodegenerative disease of the central nervous system (CNS). Its etiology remains unknown. Several recent studies have found that decreased susceptibility to vitamin D deficiency is also associated with a decreased risk of MS. The role of vitamin D receptor (VDR) gene and its polymorphisms are highlighted as susceptible components. In this study, we aimed to identify the relationship between Apal (rs7975232), BsmI (rs 1544410), and TaqI (rs731236) gene polymorphisms with MS. Apal, Bsml, and TaqI genotypes were determined in 70 patients with MS and in 70 control subjects. DNA was isolated from blood samples, and then Apal, BsmI and TaqI gene polymorphisms were identified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The distribution of BsmI and TaqI polymorphisms did not show any significant differences in MS patients and controls; however, increased A allele of Apal polymorphism was found in MS patients. Our findings suggest that the Apal gene polymorphism might be associated with MS. Investigation of a larger population and functional work on these gene structures and function in MS patients are recommended.