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Published on: July 19, 2019
Analysis of Vitamin D Receptor Polymorphisms in Patients with Familial Multiple Sclerosis
Fatma Ebru Yucel1, Ozden Kamıslı1, Ceren Acar2
1Inonu University, School of Medicine, Department of Neurology Malatya, Turkey.
Objective:
Genetic and environmental factors are important in the development of the multiple sclerosis (MS). Vitamin D shows its effects on the immune system with the vitamin D receptor (VDR) in the nucleus. Single nucleotide polymorphisms (SNPs) in the VDR gene can lead to alterations in vitamin D functions and metabolism.Taq I, Apa I, Fok I and Bsm I polymorphisms and MS associations have been investigated in many studies. VDR gene polymorphism has not been previously studied in patients with familial MS.
Aim:
We aimed to investigate the relationship between familial MS patients present in Turkish population and VDR genotypes Taq I, Apa I and Fok I polymorphisms.
Methods:
29 patients with a family history of MS and 120 healthy control subjects were included in the present study. We studied present VDR genotypes Taq I, Apa I and Fok I polymorphisms.
Results:
We observed a significant difference between controls and patient group only in Taq I polymorphism (p: 0.025). Homozygousity of G allele was not seen in the patients whereas in controls frequency of that genotype was p:0.208. When gender was considered males show significant difference for GG genotype. There were no significant association for the Apa I and Fok I polymorphisms.
Conclusion:
Although our findings suggest association between VDR Taq I polymorphism and the familial MS, additional studies are needed to establish detailed relationships.
Insights
Vitamin D receptor (VDR) gene Taq I polymorphism is associated with familial multiple sclerosis (MS) in the Turkish population. This finding suggests a potential genetic link, though further research is necessary for confirmation.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Multiple sclerosis (MS) development involves genetic and environmental factors.
- Vitamin D influences the immune system via the vitamin D receptor (VDR).
- Single nucleotide polymorphisms (SNPs) in the VDR gene may alter vitamin D metabolism and function.
Purpose of the Study:
- To investigate the association between VDR gene polymorphisms (Taq I, Apa I, Fok I) and familial MS in the Turkish population.
- To explore the role of VDR genotypes in the genetic susceptibility to familial MS.
Main Methods:
- A case-control study involving 29 familial MS patients and 120 healthy controls from Turkey.
- Genotyping of VDR gene polymorphisms: Taq I, Apa I, and Fok I.
Main Results:
- A significant association was found between the VDR Taq I polymorphism and familial MS (p=0.025).
- The GG genotype (homozygous G allele) for Taq I was absent in patients but present in controls (p=0.208).
- No significant associations were observed for Apa I and Fok I polymorphisms.
Conclusions:
- The VDR Taq I polymorphism may be associated with familial MS in the studied Turkish population.
- Further comprehensive studies are required to elucidate the detailed genetic relationship between VDR polymorphisms and familial MS.
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