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Genes and Vitamin D – literature review – Dec 2015

Single nucleotide polymorphisms in the vitamin D pathway associating with circulating concentrations of vitamin D metabolites and non-skeletal health outcomes: review of genetic association studies.

The Journal of Steroid Biochemistry and Molecular Biology, doi:10.1016/j.jsbmb.2015.12.007
David A Jolliffe, , Robert T Walton, Christopher J Griffiths, Adrian R Martineau a.martineau at qmul.ac.uk

Highlights
• We review a total of 120 genetic association studies on vitamin D pathway SNP
• Significant associations reported for a total of 55 SNP in 11 vit D pathway genes
• 44 studies report 114 findings of SNP which determine metabolite concentration
• 76 studies report 105 findings of SNP which affect non-skeletal health outcomes
• Infectious and auto-immune related disease were most frequent to associate with SNP
• Limited overlap of SNP predicting vit D status and SNP affecting disease outcomes

Polymorphisms in genes encoding proteins involved in vitamin D metabolism and transport are recognised to influence vitamin D status. Syntheses of genetic association studies linking these variants to non-skeletal health outcomes are lacking. We therefore conducted a literature review to identify reports of statistically significant associations between single nucleotide polymorphisms (SNP) in 11 vitamin D pathway genes (

  • DHCR7,
  • CYP2R1,
  • CYP3A4,
  • CYP27A1,
  • DBP,
  • LRP2,
  • CUB,
  • CYP27B1,
  • CYP24A1,
  • VDR and
  • RXRA)

and non-bone health outcomes and circulating levels of 25-hydroxyvitamin D (25[OH]D and 1,25-dihydroxyvitamin D (1,25[OH]2D). A total of 120 genetic association studies reported positive associations, of which 44 investigated determinants of circulating 25(OH)D and / or 1,25(OH)2D concentrations, and 76 investigated determinants of non-skeletal health outcomes. Statistically significant associations were reported for a total of 55 SNP in the 11 genes investigated. There was limited overlap between genetic determinants of vitamin D status and those associated with non-skeletal health outcomes: polymorphisms in DBP, CYP2R1 and DHCR7 were the most frequent to be reported to associate with circulating concentrations of 25(OH)D, while polymorphisms in VDR were most commonly reported to associate with non-skeletal health outcomes, among which infectious and autoimmune diseases were the most represented.


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See also VitaminDWiki

Genetics category listing contains the following

229 articles in the Genetics category

see also 247 articles in Vitamin D Receptor, 92 articles in Vitamin D Binding Protein

Vitamin D blood test misses a lot
Blood Test Misses a lot (VDW 3439)

  • Snapshot of the literature by VitaminDWiki - (subject to many future developments)
  • Vitamin D from coming from tissues (vs blood) was speculated to be 50% in 2014, andi in 2017 is speculated to be 90%
  • Note: Good results from a blood test (> 40 ng) does not mean that a good amount of Vitamin D actually gets to cells
  • A Vitamin D test in cells appears feasible (personal communication)
    However test results would vary in each tissue due to multiple genes
  • Good clues that Vitamin D is being restricted from getting to the cells
    1) A vitamin D-related health problem runs in the family
       especially if it is one of 47+ diseases related to Vitamin D Receptor
    2) Slightly increasing Vitamin D show benefits (even if conventional Vitamin D test shows an increase)
    3) Vitamin D Receptor test (<$30) scores are difficult to understand in 2016
        easier to understand the VDR 23andMe test results analyzed by FoundMyFitness in 2018
    4) Back Pain
        probably want at least 2 clues before taking adding vitamin D, Omega-3, Magnesium, Resveratrol, etc
          The founder of VitaminDWiki took action with clues #3&4


end of category listing

Attached files

ID Name Comment Uploaded Size Downloads
8567 Genes 2016.jpg admin 20 Oct, 2017 10:39 20.44 Kb 139
8566 Single nucleotide polymorphisms in the vitamin D.pdf admin 20 Oct, 2017 10:39 501.07 Kb 111
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