Genetic Variants Influencing Individual Vitamin D Status.
Level 5 - mechanism / opinion, no new human data
Narrative review synthesizing genetic and mechanistic literature without systematic search or meta-analysis
PubMed 40871701 · doi:10.3390/nu17162673
What was done
This narrative review summarizes literature regarding genetic variants (single-nucleotide polymorphisms and rare mutations) that influence serum 25-hydroxyvitamin D [25(OH)D] concentrations. The authors reviewed genes involved in vitamin D synthesis (DHCR7, CYP2R1, CYP27B1), transport (GC), catabolism/metabolism (CYP24A1, CYP3A4), and cholesterol transport (SCARB1, CD36, NPC1L1), alongside gene-environment interactions and population-specific allele frequencies.
What was found
The abstract reports no numerical data, effect sizes, or allele frequencies. It qualitatively describes how genetic variations across these pathways affect enzyme activity, vitamin D bioavailability, and circulating 25(OH)D concentrations, modulating individual risk for deficiency or toxicity.
Why it matters
Understanding genetic determinants of vitamin D status highlights the potential utility of genomic risk scores to personalize supplementation strategies in precision clinical nutrition.
Limits
The abstract does not state the number of studies reviewed or search methodology. As a narrative review, it provides no quantitative pooled metrics or risk estimates, and proposed clinical applications like genetic screening for supplementation guidance remain conceptual rather than trial-proven.
Cited by
- supports Single nucleotide polymorphisms affect the enzymatic steps required to convert vitamin D3 into 25-hydroxyvitamin D.