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VDBP, CYP27B1, and 25-Hydroxyvitamin D Gene Polymorphism Analyses in a Group of Sicilian Multiple Sclerosis Patients

L Agnello1, C Scazzone1, B Lo Sasso1

  • 1Dipartimento di Biopatologia e Biotecnologie Mediche, Università di Palermo, Palermo, Italy.

Biochemical Genetics
|December 2, 2016
PubMed

Insights

This study investigated vitamin D gene variants in multiple sclerosis (MS) patients. While lower vitamin D levels were found in MS patients, specific VDBP and CYP27B1 gene variants did not appear to increase MS risk.

Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Multiple sclerosis (MS) is a central nervous system demyelinating disease causing neurological disability in young adults.
  • Both genetic and environmental factors, including vitamin D deficiency, are implicated in MS etiology.
  • Vitamin D-regulating genes are crucial for maintaining vitamin D status.

Purpose of the Study:

  • To investigate the association between genetic variants in vitamin D-binding protein (VDBP) and CYP27B1 genes and the risk of MS.
  • To compare vitamin D levels between MS patients and healthy controls.

Main Methods:

  • Genotyping of VDBP and CYP27B1 variants using polymerase chain reaction and restriction fragment length polymorphism analysis in 100 MS patients and 92 controls.
  • Measurement of serum 25-hydroxyvitamin D levels using high-performance liquid chromatography.

Main Results:

  • No significant difference in VDBP genotypic variant distribution was observed between MS patients and controls.
  • MS patients exhibited significantly lower serum 25-hydroxyvitamin D levels compared to controls.
  • Specific VDBP genotypes (Gc2) were associated with lower vitamin D levels, while others (Gc1f) were associated with higher levels in MS patients.
  • Only wild-type alleles for the analyzed CYP27B1 mutations were found in both groups.

Conclusions:

  • The investigated VDBP and CYP27B1 gene variants do not appear to independently influence the risk of developing MS.
  • Lower vitamin D levels in MS patients may be influenced by VDBP genotype, but not by CYP27B1 mutations.
  • Further research is needed to fully elucidate the complex interplay between vitamin D, genetics, and MS pathogenesis.
Keywords:
25(OH)DCYP27B1Multiple sclerosisVDBP polymorphismVitamin D

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