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Genetic Variants Influencing Individual Vitamin D Status.

Niel A Karrow1,2, Spencer E Leuschner1, Umesh K Shandilya1

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Genetic variations significantly impact vitamin D (VD) levels, influencing health outcomes. Understanding these genetic factors enables personalized VD supplementation for optimal health and reduced deficiency risk.

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Area of Science:

  • Nutrigenomics
  • Human Genetics
  • Endocrinology

Background:

  • Vitamin D (VD) is crucial for human health, with deficiencies linked to immune dysfunction and disease.
  • Environmental factors like diet and sunlight affect VD levels, but genetic variations are significant, underappreciated contributors to individual differences in serum 25-hydroxyvitamin D [25(OH)D].

Purpose of the Study:

  • To review genetic variants in genes affecting VD synthesis, transport, and metabolism.
  • To examine the impact of single-nucleotide polymorphisms (SNPs) and rare mutations on VD status.
  • To highlight gene-environment interactions and population-specific allele frequencies influencing VD responses.

Main Methods:

  • Comprehensive review of genetic variants in key VD-related genes (e.g., DHCR7, GC, CYP24A1) and cholesterol transporters (e.g., SCARB1).
  • Analysis of how SNPs and mutations affect enzyme activity, VD bioavailability, and 25(OH)D status.
  • Examination of gene-by-environment interactions and population-specific allele frequencies.

Main Results:

  • Identified key genetic variants in VD synthesis, transport, and metabolism genes.
  • Demonstrated how genetic variations influence enzyme function, VD bioavailability, and serum 25(OH)D levels.
  • Highlighted the role of gene-environment interactions and population-specific allele frequencies in VD status.

Conclusions:

  • Genetic screening and monitoring of serum 25(OH)D can identify individuals at risk for VD deficiency or toxicity.
  • Genomic risk scores (GRSs) can guide personalized VD supplementation strategies for precision health.
  • Integrating genetic information with clinical monitoring improves outcomes for achieving optimal VD immunosufficiency.