VDR

Protein:

Vitamin D Receptor

SNP ID:

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The vitamin D receptor (VDR) encoded for by the gene VDR is the receptor for the bioactive form of vitamin D, calcitriol. Vitamin D plays a key role in the absorption of calcium from the gut, which is required for healthy bone formation, muscle, and heart activity as well as numerous other cell functions. When vitamin D binds to VDR the receptor is activated and this initiates the expression of a protein called calbindin. Calbindin binds with calcium and greatly improves the efficiency of its absorption through the gut, and can also hold calcium in the blood for later use 1,2.

There are four SNPs associated with changes in VDR activity, one of which actually increases VDR activity and hence calcium uptake (rs2228570 – FokI); whilst the data for the other three is more confusing (rs1544410 – BsmI, rs7975232 – ApaI and rs731236 – TaqI).

BsmI

Science Score
Musculoskeletal Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%)
rs1544410 g a 30

Risk Description

There is no independent risk associated with either the ‘G’ or the ‘A’ allele of the SNP BsmI in the VDR gene. Rather the risk depends on the association of BsmI with the other VDR SNPs TaqI and ApaI.

Reduced VDR activity is is observed when either:

The ‘G’ allele of BsmI, ‘G’ allele of ApaI and ‘T’ allele of TaqI

Or the ‘A’ allele of BsmI, ‘T’ allele of ApaI and ‘C’ allele of TaqI

occur together 3.

Direct Nutrients:*

IngredientActive IngredientEffect
Vitamin D Calcitriol

As discussed above either the ‘G’ or ‘A’ allele of BsmI is associated with reduced VDR activity and hence calcium uptake, depending on the alleles present in the other VDR SNPs TaqI and ApaI. If one of the harmful combinations of SNPs is present vitamin D supplementation is recommended to ensure that proper calcium uptake can occur.

Given that the majority of us are vitamin D deficient through lifestyle changes supplementation is typically recommended regardless of underlying genetic issues 3,4.

Indirect Nutrients:*

IngredientActive IngredientEffect
Calcium

The main role of vitamin D binding to VDR is to promote proper uptake of calcium from the gut. Whilst, calcium is not limited in the normal diet those pursuing a vegan, or dairy free diet may consider supplementation, especially if they carry one of the combination of risk alleles described above 5.

Nutritional Contraindications:*

IngredientActive IngredientEffect
Caffeine

There have been numerous observations that an increase in caffeine intake associates with poor bone health and a risk of developing osteoporosis. Caffeine is thought to promote the excretion of calcium in urine, whilst simultaneously preventing the production of new bone. Whilst there is an association with increased caffeine intake and poor bone health for the TaqI allele, nothing has been described for BsmI.

Discuss this information with your doctor before taking any course of action.

FokI

Science Score
Musculoskeletal Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%) Major Amino Acid Minor Amino Acid
rs2228570 c t 36MetThr

Risk Description

There is no risk allele as such associated with the SNP FokI in the VDR gene. The ‘T’ allele is considered to display normal VDR activity, whereas this is increased in those with the ‘C’ allele. This increased activity is associated with a greater absorption of calcium from the gut and also correlates with increased bone strength 710.

There is a small chance, depending on other dietary choices that high VDR activity can lead to abnormally high calcium levels in the blood. It is hypothesized that if too much calcium is present in the blood, excessive or irregular muscle contractions can occur; which can manifest as an irregular or racing heartbeat.

Direct Nutrients:*

IngredientActive IngredientEffect
Vitamin D Calcitriol

Although the ‘T’ allele of the FokI SNP is associated with normal VDR activity, and the ‘C’ allele with increased activity it is likely that the vast majority of us are deficient in vitamin D. Therefore supplementation is to be recommended to ensure both healthy calcium uptake, and that the other cellular activities dependent on vitamin D can proceed normally 4.

Indirect Nutrients:*

IngredientActive IngredientEffect
Calcium

When vitamin D binds to VDR it modulates calcium uptake from the gut. Calcium is not normally limited in a normal diet; however, those pursuing a vegan, or dairy free diet may consider supplementation, especially if they carry the ‘C’ allele of FokI 5.

Nutritional Contraindications:*

IngredientActive IngredientEffect
Calcium

There is a small chance, depending on other dietary choices that high VDR activity, potentially associated with the ‘C’ allele of the SNP FokI can lead to abnormally high calcium levels in the blood. It is hypothesized that if too much calcium is present in the blood, excessive or irregular muscle contractions can occur; which can manifest as an irregular or racing heartbeat 6.

Discuss this information with your doctor before taking any course of action.

TaqI

Science Score
Musculoskeletal Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%) Major Amino Acid Minor Amino Acid
rs731236 t c 33IleIle

Risk Description

There is no independent risk associated with either the ‘T’ or the ‘C’ allele of the SNP TaqI in the VDR gene, sometimes termed TaqI. Rather the risk depends on the association of TaqI with the other VDR SNPs BsmI and ApaI.

Reduced VDR activity is associated when either:

The ‘G’ allele of BsmI, ‘G’ allele of ApaI and ‘T’ allele of TaqI

Or the ‘A’ allele of BsmI, ‘T’ allele of ApaI and ‘C’ allele of TaqI

Occur together 3.

Direct Nutrients:*

IngredientActive IngredientEffect
Vitamin D Calcitriol

As discussed above either the ‘T’ or ‘C’ allele of TaqI is associated with reduced VDR activity and hence calcium uptake, depending on the alleles present in the other VDR SNPs BsmI and ApaI. If one of the harmful combinations of SNPs is present vitamin D supplementation is recommended to ensure that proper calcium uptake can occur. However, given that the majority of us are vitamin D deficient anyway supplementation is to be recommended to ensure both healthy calcium uptake, and that the other cellular activities dependent on vitamin D can proceed normally 3,4.

Indirect Nutrients:*

IngredientActive IngredientEffect
Calcium

Vitamin D binds to VDR promoting proper uptake of calcium from the gut. Calcium is not usually limited in the normal diet. However, those pursuing a vegan, or dairy free diet may consider supplementation, especially if they carry one of the combination of risk alleles described above 5.

Nutritional Contraindications:*

IngredientActive IngredientEffect
Caffeine

There are numerous observations reports of an increase in caffeine intake associating with poor bone health and a risk of developing osteoporosis. Caffeine is thought to increase the excretion of calcium from the body, whilst also preventing the production of new bone. The effect is particularly pronounced in post-menopausal women, especially those carrying the ‘T’ allele of TaqI.

Discuss this information with your doctor before taking any course of action.

ApaI

Science Score
Musculoskeletal Health
rsID Number Major Allele Minor Allele Minor Allele Frequency (%)
rs7975232 t g 48

Risk Description

There is no independent risk associated with either the ‘T’ or the ‘G’ allele of the SNP ApaI in the VDR gene, sometimes termed ApaI. Rather the risk depends on the association of ApaI with the other VDR SNPs BsmI and TaqI.

Reduced VDR activity is associated when either:

The ‘G’ allele of BsmI, ‘G’ allele of ApaI and ‘T’ allele of TaqI

Or the ‘A’ allele of BsmI, ‘T’ allele of ApaI and ‘C’ allele of TaqI

Occur together 3.

Direct Nutrients:*

IngredientActive IngredientEffect
Vitamin D Calcitriol

As discussed above either the ‘T’ or ‘G’ allele of ApaI is associated with reduced VDR activity and hence calcium uptake, depending on the alleles present in the other VDR SNPs TaqI and BsmI. If one of the harmful combinations of SNPs is present vitamin D supplementation is recommended to ensure that proper calcium uptake can occur. However, given that the majority of us are vitamin D deficient anyway supplementation is to be recommended to ensure both healthy calcium uptake, and that the other cellular activities dependent on vitamin D can proceed normally 3,4.

Indirect Nutrients:*

IngredientActive IngredientEffect
Calcium

A major function of vitamin D binding to VDR is to ensure proper uptake of calcium from the gut. Whilst, calcium is not typically limited in the normal diet those pursuing a vegan, or dairy free diet may consider supplementation, especially if they carry one of the combination of risk alleles described above 5.

Nutritional Contraindications:*

IngredientActive IngredientEffect
Caffeine

There have been numerous observations that an increase in caffeine intake associates with poor bone health and a risk of developing osteoporosis. Caffeine is thought to promote the excretion of calcium in urine, whilst simultaneously preventing the production of new bone. Whilst there is an association with increased caffeine intake and poor bone health for the TaqI allele, nothing has been described for ApaI.

Discuss this information with your doctor before taking any course of action.

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