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Vitamin D insufficiency was 3.7 X more likely if CYP2R1 gene variation– June 2014

Genetic Variation in CYP2R1 and GC Genes Associated With Vitamin D Deficiency Status

Journal of Pharmacy Practice online before print June 2, 2015; 0897190015585876
Nicole A. Slater, PharmD 1
Michelle L. Rager, PharmD 2 mrager at su.edu
Dawn E. Havrda, PharmD 2
Arthur F. Harralson, PharmD 3
1Department of Pharmacy Practice, Harrison School of Pharmacy, Auburn University, Mobile AL, USA
2Department of Pharmacy Practice, Bernard J Dunn School of Pharmacy, Shenandoah University, Winchester, VA, USA
3Department of Pharmacogenomics, Bernard J Dunn School of Pharmacy, Shenandoah University, Winchester, VA, USA

VitaminDWiki Summary

Insufficiency(< 30 ng) in 78% of 180 patients

Gene Risk of < 30 ng
CYP2R1 (rs10741657)3.7 X
GC (rs2282679)2.4 X
VDR (rs2228570)-
DHCR7 (rs12785878)-

See also VitaminDWiki

Genetics category listing contains the following

249 articles in the Genetics category

see also

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

  • Snapshot of the literature by VitaminDWiki as of early 2019
  • Vitamin D from coming from tissues (vs blood) was speculated to be 50% in 2014, andi by 2017 was 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 rather than blood was feasible (2017 personal communication)
  •    Commercially available 2019
    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 51+ 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


This cross-sectional study enrolled 180 patients at a private family practice in Virginia. Total serum vitamin D concentrations were obtained weekly from January 30, 2013, through March 30, 2013, in consecutive patients regularly scheduled for laboratory work at the practice. Patients were categorized into 2 groups and analyzed for variant alleles in

  • vitamin D receptor (VDR; rs2228570),
  • cytochrome P450 2R1 (CYP2R1; rs10741657),
  • 7-dehydrocholesterol reductase (DHCR7; rs12785878), and
  • group-specific component (GC; rs2282679)

to determine whether variants of those alleles influenced total serum 25(OH)D concentrations. One-hundred and eighty patients were enrolled, with 40 (22%) being sufficient, 25-hydroxy vitamin D level 25(OH)D ≥ 30 ng/mL, and 140 (78%) being insufficient, 25(OH)D < 30 ng/mL. Of the 4 genes, 2 genes, CYP2R1 (rs10741657) and GC (rs2282679), demonstrated a significant association related to vitamin D status. Subjects with 1 or more variant alleles at rs10741657 were almost 3.7 (odds ratio [OR] 3.67; 95% confidence interval [CI]: 1.35-9.99) times more likely be insufficient in vitamin D and subjects with 1 or more variant alleles at rs2282679 were about half (OR 0.42; 95% CI: 0.18-0.93) as likely to be insufficient in vitamin D.
Allelic variations in CYP2R1 (rs10741657) and GC (rs2282679) affect vitamin D levels, but variant alleles on VDR (rs2228570) and DHCR7 (rs12785878) were not correlated with vitamin D deficiency, 25(OH)D < 30 ng/mL.

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