VDR rs11568820: What Your Genotype Means
The rs11568820 variant is a single nucleotide polymorphism located in the promoter region of the VDR gene. It is primarily studied for its potential role in modulating vitamin D receptor expression, which may influence intestinal calcium absorption and bone mineral density.
What each genotype means
Typical VDR promoter activity
This genotype represents the common form of the Cdx2 promoter region in the VDR gene. Research indicates this variant influences how the vitamin D receptor is expressed, though its specific impact on health outcomes remains a subject of ongoing study.
This is the most common genotype in many global populations, though frequencies vary significantly by ancestry.
Intermediate VDR promoter activity
Carrying one copy of the A allele may modulate the transcriptional activity of the vitamin D receptor compared to the GG genotype. Studies have explored associations between this variant and various health conditions, including metabolic and autoimmune markers, but results are often mixed or limited to specific populations.
This heterozygous genotype is found in a significant portion of the population, with frequencies typically ranging between 30% and 50% in many groups.
Altered VDR promoter activity
Individuals with this genotype carry two copies of the A allele, which has been associated in some research with altered VDR gene expression and potential differences in insulin secretion or metabolic risk. Because evidence is limited and often ancestry-specific, these findings should be viewed as statistical associations rather than diagnostic indicators.
This genotype is less common than the others, typically appearing in roughly 1 in 5 to 1 in 10 individuals depending on ancestral background.
Understanding the rs11568820 Variant
The rs11568820 variant, often referred to in scientific literature as the Cdx2 polymorphism, is a genetic change located in the promoter region of the VDR gene. A promoter is a specific segment of DNA that acts as a switch, determining how much of a protein is produced by a gene. By sitting in this regulatory area, the rs11568820 variant may alter the binding of transcription factors, which are proteins that help turn genes on or off. Because this variant is located in a regulatory region rather than the protein-coding sequence itself, it does not change the structure of the vitamin D receptor protein, but it may influence the quantity of the receptor produced in various tissues throughout the body.
The Role of the VDR Gene
The VDR gene provides the instructions for creating the vitamin D receptor protein. This protein is essential for the body to effectively utilize vitamin D, a hormone that plays a critical role in maintaining healthy levels of calcium and phosphate. When the active form of vitamin D, known as calcitriol, binds to the VDR protein, the resulting complex acts as a master regulator for many other genes. This process is vital for bone health, as it controls the absorption of calcium from the intestines into the bloodstream. Beyond bone health, the VDR protein is involved in various biological processes, including immune system function and hair growth. Disruptions in the VDR gene can lead to significant health conditions, such as vitamin D-dependent rickets type 2A, which highlights the importance of this receptor in human physiology.
Research Associations and Evidence Strength
Research into rs11568820 has explored its potential links to a variety of health outcomes, including bone mineral density, osteoporosis, and even metabolic conditions like type 2 diabetes. Some studies suggest that the variant may influence how effectively the body responds to vitamin D, which in turn could affect bone strength and fracture risk. Other researchers have investigated whether this polymorphism is associated with an increased risk of certain cancers, such as colorectal cancer, or autoimmune disorders. However, it is important to note that the evidence for these associations is currently considered limited and often mixed. Many studies show conflicting results across different populations, suggesting that the impact of this variant may be influenced by environmental factors, diet, or other genetic modifiers. Consequently, this variant is not currently used as a definitive diagnostic tool for any specific disease.
Interpreting Your Genetic Information
If you have received information about your rs11568820 genotype, it is important to view it within the context of your overall health. Because the scientific evidence linking this specific variant to health outcomes is limited and inconsistent, it cannot be used to predict your personal risk for bone disease or other conditions. Genetic variants are only one piece of a much larger puzzle that includes your lifestyle, nutrition, and overall medical history. You should never use this information to make changes to your diet, supplements, or medical treatments without consulting a healthcare professional. If you are concerned about your vitamin D levels or bone health, speak with your doctor or a registered dietitian. They can provide personalized guidance based on clinical blood tests and your specific health needs, rather than relying on a single genetic marker.
How common is this variant?
The minor allele frequency for rs11568820 is approximately 0.15 to 0.20 in European and East Asian populations.
Frequently asked questions
Is rs11568820 a cause of osteoporosis?
No, rs11568820 is not a direct cause of osteoporosis. While some research explores its association with bone mineral density, osteoporosis is a complex condition influenced by many genetic and environmental factors.
Should I take more vitamin D if I have the A allele?
You should not change your vitamin D intake based on this genetic variant. Always consult your healthcare provider to determine if you need supplementation based on your blood levels and clinical health status.
Does this variant affect my risk of cancer?
Some studies have investigated potential links between this variant and cancer risk, but the evidence is limited and inconsistent. It is not a reliable predictor of cancer risk for individuals.
Where can I find more information on the VDR gene?
You can find reliable information about the VDR gene and its functions on the MedlinePlus Genetics website, which is maintained by the National Library of Medicine.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs11568820?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in VDR
Variant in the promoter region (Cdx2 site) of the vitamin D receptor gene associated with altered intestinal calcium absorption and bone mineral density.
This variant in the Vitamin D receptor gene is associated with susceptibility to Type 1 Diabetes and autoimmune thyroid disease.
Common polymorphism (TaqI variant) in the vitamin D receptor affecting mRNA stability and bone mineral density.
Known as the TaqI polymorphism, this variant is located in the 3' UTR of the VDR gene and is associated with altered mRNA stability, influencing vitamin D signaling, cancer cachexia susceptibility, and gastric cancer risk.
Variant in the VDR promoter (Cdx-2 binding site) associated with bone mineral density and calcium absorption efficiency.
The Cdx2 polymorphism in the VDR promoter influences vitamin D receptor expression and is associated with bone mineral density.