- Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review
- Study: GC, CYP2R1, VDR, CYP24A1, DHCR7, CYP27B1, CYP27A1, CASR, PTH, CYP3A4, RXRA, CUBN
- Note: It appears that GC (binding), CYP3A4, CYP24A1, and CYP27A1 genes
are not involved in topical, sublingual vitamin D that does not use the liver or kidneys (see chart below) - VitaminDWiki – Genetics category contains
Association between Polymorphisms in Vitamin D Pathway-Related Genes, Vitamin D Status, Muscle Mass and Function: A Systematic Review
Nutrients 2021, 13(9), 3109; https://doi.org/10.3390/nu13093109
by Ermira Krasniqi 1,2,3ORCID,Arben Boshnjaku 2,4ORCID, Karl-Heinz Wagner 1,3ORCID and Barbara Wessner 1,2,*ORCID
1 Research Platform Active Ageing, University of Vienna, Althanstraße 14, 1090 Vienna, Austria
2 Centre for Sport Science and University Sports, University of Vienna, Auf der Schmelz 6, 1150 Vienna, Austria
3 Department of Nutritional Sciences, University of Vienna, Althanstraße 14, 1090 Vienna, Austria
4 Faculty of Medicine, University “Fehmi Agani” in Gjakova, Ismail Qemali n.n., 50000 Gjakovë, Kosovo
An association between vitamin D level and muscle-related traits has been frequently reported. Vitamin D level is dependent on various factors such as sunlight exposure and nutrition. But also on genetic factors. We, therefore, hypothesize that single nucleotide polymorphisms (SNPs) within the vitamin D pathway-related genes could contribute to muscle mass and function via an impact on vitamin D level. However, the integration of studies investigating these issues is still missing. Therefore, this review aimed to systematically identify and summarize the available evidence on the association between SNPs within vitamin D pathway-related genes and vitamin D status as well as various muscle traits in healthy adults. The review has been registered on PROSPERO and was conducted following PRISMA guidelines. In total, 77 studies investigating 497 SNPs in 13 different genes were included, with significant associations being reported for 59 different SNPs.
Variations in GC, CYP2R1, VDR, and CYP24A1 genes were reported most frequently, whereby especially SNPs in the GC (rs2282679, rs4588, rs1155563, rs7041) and CYP2R1 genes (rs10741657, rs10766197, rs2060793) were confirmed to be associated with vitamin D level in more than 50% of the respective studies. Various muscle traits have been investigated only in relation to four different vitamin D receptor (VDR) polymorphisms (rs7975232, rs2228570, rs1544410, and rs731236). Interestingly, all of them showed only very low confirmation rates (6–17% of the studies). In conclusion, this systematic review presents one of the most comprehensive updates of the association of SNPs in vitamin D pathway-related genes with vitamin D status and muscle traits in healthy adults. It might be used for selecting candidate SNPs for further studies, but also for personalized strategies in identifying individuals at risk for vitamin D deficiency and eventually for determining a potential response to vitamin D supplementation.
 Download the PDF from VitaminDWiki
Study: GC, CYP2R1, VDR, CYP24A1, DHCR7, CYP27B1, CYP27A1, CASR, PTH, CYP3A4, RXRA, CUBN
Note: It appears that GC (binding), CYP3A4, CYP24A1, and CYP27A1 genes
are not involved in topical, sublingual vitamin D that does not use the liver or kidneys (see chart below)
VitaminDWiki – Genetics category contains
see also
- Vitamin D Receptor has
530 items - Vitamin D Binding Protein = GC has
178 items - CYP27B1 has
63 items - CYP24A1 in title of 34+ 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
12 Vitamin D genes (Most are not noticed by blood test) – Sept 20211580 visitors, last modified 16 Jul, 2023, This page is in the following categories (# of items in each category)Attached files
ID Name Uploaded Size Downloads 19811 Gene chart.jpg admin 16 Jul, 2023 67.71 Kb 122 19810 Genes and Muscle_CompressPdf.pdf admin 16 Jul, 2023 327.75 Kb 109 - Vitamin D Binding Protein = GC has