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@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
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
- CYP2R1 gene problem increases Multiple Sclerosis risk by 1.4X – Dec 2018
- Vitamin D suppressed by Roundup and Genes - CYP2R1, CYP24A1, CYP450 etc.
- CYP2R1 mutations also cause vitamin D-deficient rickets – July 2016
Genetics category listing contains the following
see also
- Vitamin D Receptor has
530 items - Vitamin D Binding Protein = GC has
178 items - CYP27B1 has
63 items - CYP24A1 in title of 39+ items
- CYP2R1 25+ items
- Calcidiol has
48 items - Calcitriol has
62 items - Topical Vitamin D
- Nanoemulsion Vitamin D may be a substantially better form
- 1289 genes changed with higher doses of Vitamin D - RCT Dec 2019
- CYP3A4 (7 as of Dec 2022)
- Getting Vitamin D into your body
Vitamin D blood test misses a lot
- Vitamin D from coming from tissues (vs blood) was speculated to be 50% in 2014, and by 2017 was speculated to be 90%
- Note: Good blood test results (> 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 shows benefits (even if conventional Vitamin D test shows an increase)
3) DNA and VDR tests - 100 to 200 dollars $100 to $250
4) PTH bottoms out ( shows that parathyroid cells are getting Vitamin d)
Genes are good, have enough Magnesium, etc.
5) 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&5
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.Publisher wants $36 for the PDF
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