Distribution of vitamin D receptor genes polymorphisms BsmI, and FokI in patients with multiple sclerosis in Serbian population

  • Lazar Bajić University Clinical Center Niš, Clinic of Neurology, Niš, Republic of Serbia
  • Dejan Savić University Clinical Center Niš, Clinic of Neurology, Niš, Republic of Serbia
  • Nikola Krstić University of Niš, Faculty of Medicine, Niš, Republic of Serbia https://orcid.org/0000-0002-4398-1449
  • Ana Andrejević University of Niš, Faculty of Medicine, Niš, Republic of Serbia
  • Andrija Rančić University of Niš, Faculty of Medicine, Niš, Republic of Serbia https://orcid.org/0009-0007-6845-9458
  • Miljana Mladenović University of Niš, Faculty of Medicine, Niš, Republic of Serbia
  • Tatjana Jevtović-Stoimenov University of Niš, Faculty of Medicine, Department of Biochemistry, Niš, Republic of Serbia https://orcid.org/0000-0003-0600-5411
Keywords: SNP, vitamin D receptor, vitamin D, neuroinflammatory diseases, multiple sclerosis

Abstract


Multiple sclerosis (MS) is chronic, autoimmune demyelinating disease of central nervous system. Connection between vitamin D deficiency, sun exposure and higher incidence of multiple sclerosis is long known, and number of subsequent studies have confirmed anti-inflammatory and neuroprotective properties of vitamin D. Vitamin D receptor (VDR) is responsible for most of the biological effects of the vitamin D, and the four VDR single nucleotide polymorphisms (SNPs) are identified as possible risk factors in several autoimmune diseases.  The aim of our study was to determine relationship between susceptibility to MS and frequency of VDR polymorphisms BsmI (rs7975232) and FokI (rs2228570) in Serbian population. A total of 169 participants from southeastern Serbia were enrolled in our study, of whom 80 were diagnosed with multiple sclerosis. PCR-RFLP method was used for screening of FokI and BsmI VDR polymorphisms. There was a statistically significant difference in the distribution of FokI genotypes and alleles between the MS patients and control group (p = 0.006; p = 0.001). There was no statistically significant difference of BsmI genotypes and alleles between MS patients and healthy subjects (p = 0.140; p = 0.153). In conclusion, our case-control study showed that FokI rs228570 polymorphism is associated with risk of multiple sclerosis in Serbian population. In addition, we did not find correlation between the BsmI rs1544410 polymorphism and risk of multiple sclerosis in Serbian population.

Author Biographies

Dejan Savić, University Clinical Center Niš, Clinic of Neurology, Niš, Republic of Serbia

Assistant professor

Nikola Krstić, University of Niš, Faculty of Medicine, Niš, Republic of Serbia

Research assistant

Tatjana Jevtović-Stoimenov, University of Niš, Faculty of Medicine, Department of Biochemistry, Niš, Republic of Serbia

Full professor - University of Niš, Faculty of Medicine, Department of Biochemistry

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Published
2025/11/19
Section
Originalni rad / Original article