Genetics of vitamin D

Vitamin D is a vital nutrient that acts as a hormone after being metabolised in the body. It has diverse and extensive effects, with several studies demonstrating a positive impact of vitamin D in several physiological parameters and processes such as bone health and the immune system. In particular, vitamin D is associated to

maintain adequate
bone mineral density

protection against infections

a regulatory effect in fertility

In addition, low levels of vitamin D are considered a risk factor for several different chronic pathologies such as arterial hypertension.

Somewhat surprisingly, even though it is possible to obtain vitamin D from sunlight exposure and also through the diet, in a variety of foods, this vitamin has been consistently shown to be present in low levels in a large percentage of people, across all the globe.

About 40% of European individuals show inadequate levels of vitamin D in circulation


Vitamin D deficiency is multifactorial, meaning that it is influenced by genetic variations in multiple genes and by the environment. For this reason, the data on genetic predisposition should be integrated with information on the physical and behavioural characteristics of the person taking the test, such as age, gender, diet, vitamin D supplementation, and clinical condition.


MyVitDGenes® is an actionable genetic test from HeartGenetics that can identify individuals who are genetically predisposed to increased risk of vitamin D deficiency and/or to impaired vitamin D receptor function. This risk stratification allows to understand who would especially benefit from:

> performing biochemical quantification more often,
> controlling sun exposure,
> ensuring adequate intake of good dietary sources of vitamin D, and/or
> taking supplementation when necessary.

MyVitDGenes® is making genetic data more actionable and simpler to use, with an impact on daily lives.

The MyVitDGenes® report:

> Provides actionable and personalised recommendations with great impact on daily choices, in order to minimize the risk of vitamin D deficiency and the consequent negative effects.
> Simplifies genetic information to be used by healthcare professionals without expertise in genetics.


Detailed information

The variability of vitamin D in the serum has been robustly and consistently shown to be influenced by genetic variation, mainly of genes implicated in vitamin D

sunlight exposure

in the

in the


In addition, four main genetic variants of the vitamin D receptor gene are known to alter either the function or the production level of the encoded protein, thereby compromising the regulation of gene expression mediated by vitamin D.

MyVitDGenes® Panel

MyVitDGenes® makes use of the most recent and rigorous scientific studies that allows healthcare professionals to have unique insights into each person’s vitamin D metabolism, bioavailability, and function. The DNA, extracted from a saliva sample, is analysed to evaluate 16 genetic variants of 7 genes:

AMDHD1 – Amidohydrolase domain containing 1
CYP24A1 – Cytochrome P450 family 24 subfamily A member 1
CYP2R1 – Cytochrome P450 family 2 subfamily R member 1
DHCR7 – 7-Dehydrocholesterol Reductase
GC – GC, Vitamin D Binding Protein
SEC23A – Sec23 homolog A, COPII coat complex component
VDR – Vitamin D receptor

Turnaround time

10 working days


Scientific studies

The associations identified between the genetic variants and vitamin D needs reported in MyVitDGenes® are corroborated by reliable international scientific studies, including meta-analyses comprising very large cohorts. Only peer-reviewed scientific publications presenting statistically significant genotype-phenotype correlations have been considered.

[1] Basit, S. “Vitamin D in health and disease: A literature review.” British Journal of Biomedical Science 70.4 (2013): 161–172.
[2] Cashman, K. D., et al. “Vitamin D deficiency in Europe: Pandemic?” The American Journal of Clinical Nutrition 103.4 (2016): 1033–1044.
[3] Wang, T. J. et al. “Common genetic determinants of vitamin D insufficiency: A genome-wide association study.” The Lancet 376.9736 (2010): 180–188.
[4] Manousaki, D. et al. “Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci.” The American Journal of Human Genetics 106.3 (2020):327–337.
[5] Jiang, X., et al. Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels. Nature Communications 9.1 (2018): 260.
[6] Ji, G.-R., et al. “BsmI, TaqI, ApaI and FokI polymorphisms in the vitamin D receptor (VDR) gene and risk of fracture in Caucasians: A meta-analysis.” Bone 47.3 (2010): 681–686.
[7] Laplana, M., et al. “Vitamin D Receptor polymorphisms and risk of enveloped virus infection: A meta-analysis.” Gene 678 (2018): 384–394.