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CYP27A1, CYP24A1, and RXR-α Polymorphisms, Vitamin D, and Multiple Sclerosis: a Pilot Study

Luisa Agnello1, Concetta Scazzone1, Bruna Lo Sasso1

  • 1Department of Biopathology and Medical Biotechnologies, Section of Clinical Biochemistry and Clinical Molecular Medicine, University of Palermo, Via del Vespro, 129, 90127, Palermo, Italy.

Journal of Molecular Neuroscience : MN
|August 9, 2018
PubMed

Insights

This study links a specific gene variant, rs2248137 in CYP24A1, to an increased risk of developing multiple sclerosis (MS). Individuals with this genetic marker also showed lower vitamin D levels, suggesting a connection between genetics, vitamin D, and MS susceptibility.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Endocrinology

Background:

  • Multiple sclerosis (MS) is a complex autoimmune disease influenced by genetic and environmental factors.
  • Vitamin D deficiency (hypovitaminosis D) is implicated as a potential risk factor for MS.
  • Specific genes involved in vitamin D metabolism may play a role in MS susceptibility.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in CYP27A1, CYP24A1, and RXR-α genes, vitamin D status, and the risk of multiple sclerosis.
  • To analyze serum 25(OH)D3 levels and specific gene variants in MS patients and healthy controls.

Main Methods:

  • A nested case-control study design was employed.
  • Serum 25(OH)D3 levels were quantified using high-performance liquid chromatography (HPLC).
  • Genotyping for CYP27A1, CYP24A1, and RXR-α SNPs was performed using real-time PCR.

Main Results:

  • No significant differences in overall genotypic or allelic frequencies were found between MS patients and controls, with the exception of the rs2248137 polymorphism in CYP24A1.
  • The CC genotype (carrying the C minor allele) of rs2248137 CYP24A1 was more frequent in MS patients compared to healthy controls.
  • MS patients with the CC genotype exhibited significantly lower serum 25(OH)D3 levels than those with GG or GC genotypes.

Conclusions:

  • The rs2248137 polymorphism in the CYP24A1 gene may be associated with an increased risk of multiple sclerosis.
  • Lower vitamin D levels in MS patients carrying the CC genotype of rs2248137 CYP24A1 suggest a potential gene-vitamin D interaction in MS pathogenesis.
Keywords:
25(OH)DCYP24A1CYP27A1GeneticRXRVitamin D

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