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Vitamin D Receptor Polymorphisms Among the Turkish Population are Associated with Multiple Sclerosis

B Bulan1, A Y Hoscan1, S N Keskin1

  • 1Medical School, Marmara University, IstanbulTurkey.

Balkan Journal of Medical Genetics : BJMG
|March 7, 2023
PubMed

Insights

Vitamin D receptor (VDR) gene polymorphisms, specifically Fok-I and Taq-I, are associated with multiple sclerosis (MS) in the Turkish population. Bsm-I polymorphisms showed no significant association with MS risk.

Area of Science:

  • Genetics
  • Neurology
  • Immunology

Background:

  • Multiple sclerosis (MS) is a central nervous system inflammatory disease involving demyelination and axonal degeneration.
  • Genetic factors, including vitamin D receptor (VDR) gene polymorphisms, are investigated for their role in MS susceptibility.
  • The VDR gene plays a crucial role in immune system regulation and calcium metabolism, potentially influencing MS pathogenesis.

Purpose of the Study:

  • To investigate the association between VDR gene polymorphisms (Fok-I, Bsm-I, and Taq-I) and the risk of multiple sclerosis in the Turkish population.
  • To analyze the relationship between specific VDR genotypes and alleles and MS susceptibility.

Main Methods:

  • A case-control study involving 271 MS patients and 203 healthy controls from the Turkish population.
  • Genomic DNA extraction followed by polymerase chain reaction (PCR) amplification of VDR gene Fok-I, Bsm-I, and Taq-I regions.
  • Genotyping was performed by PCR product digestion and analysis of fragment sizes.

Main Results:

  • Significant associations were found between MS and the VDR gene Fok-I T/T genotype (dominant model) and T allele frequency.
  • Significant associations were also observed between MS and the VDR gene Taq-I C/C genotype (dominant model) and C allele frequency.
  • No significant association was detected between MS and VDR gene Bsm-I polymorphisms in terms of genotype distribution or allele frequency.

Conclusions:

  • VDR gene Fok-I and Taq-I polymorphisms are significantly associated with multiple sclerosis in the Turkish population.
  • These findings suggest that specific VDR gene variants may contribute to MS susceptibility in this ethnic group.
  • The VDR gene Bsm-I polymorphism does not appear to be associated with MS risk in the studied Turkish cohort.
Keywords:
Multiple SclerosisPolymorphismVitD Receptor

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