What you carry at this position in your DNA and what research says about it.
Bone and Heart Health: 4/10 evidence, 55 publications.
You're viewing every possible genotype for this variant.
None of these is your result. Use the genotype toggle to compare them, then sign up and upload your DNA to see which one is yours.
Sample genotype (not yours): A/A
Weaker Bones and Higher Respiratory Risk
Two copies of the A allele result in a longer, less active vitamin D receptor. This is linked to lower bone mineral density and a higher risk of respiratory issues.
What this genotype means: Lower bone mineral density; Increased risk of osteoporosis; Higher susceptibility to asthma.
Sample genotype (not yours): A/G
Typical Bone and Heart Health
Carrying one copy of each allele provides a balance between the longer and shorter receptor forms, resulting in intermediate bone density and typical cardiovascular risk.
What this genotype means: Typical bone mineral density; Average risk of cardiovascular issues; Standard response to vitamin D.
Sample genotype (not yours): G/G
Stronger Bones but Higher Heart Risk
Two copies of the G allele produce a highly active vitamin D receptor. This promotes stronger bones but is linked to an increased risk of heart disease.
What this genotype means: Higher bone mineral density; Lower risk of asthma; Increased risk of coronary artery disease.
Gene function and biological role
Gene Function: The VDR gene encodes the vitamin D receptor, a nuclear transcription factor that binds the active form of vitamin D to regulate calcium absorption and bone mineralization [1]. Beyond bone metabolism, this receptor is expressed in immune cells, blood vessels, and heart tissue, where it modulates inflammatory pathways and cardiovascular function [2]. Variations in this gene can alter how efficiently the body responds to circulating vitamin D [3]. Consequently, these genetic differences influence susceptibility to osteoporosis, infections, and cardiovascular conditions [4].
Variant Impact: The rs2228570 variant, historically known as the FokI polymorphism, is a single nucleotide change located at the translation start site of the VDR gene [5]. This alteration shifts the start codon, resulting in two structurally distinct receptor proteins of different lengths [6]. The ancestral A allele produces a longer protein of 427 amino acids, whereas the G allele creates a shorter, 424-amino-acid version [7]. This shorter receptor is more transcriptionally active, allowing for more efficient expression of vitamin D-dependent genes [1].
Key Insight: The shorter version of the vitamin D receptor is actually more biologically active, meaning some people naturally process vitamin D more efficiently even with identical sun exposure.
Location: VDR. Chromosome 12 · 12q13.11 · 47.9 Mb
Estimated prevalence by population
Global 12.1%; European 14.7%; African 4.8%; East Asian 18.5%; South Asian 6.8%; Americas 17.8%; Ashkenazi 18.4%; Finnish 12.7%; Middle Eastern 9.4%; Amish 6.9%.
Estimated AA genotype frequency.
Global 43.5%; European 47.3%; African 34.3%; East Asian 49.0%; South Asian 38.6%; Americas 48.8%; Ashkenazi 49.0%; Finnish 45.9%; Middle Eastern 42.5%; Amish 38.8%.
Estimated AG genotype frequency.
Global 44.4%; European 38.0%; African 60.9%; East Asian 32.5%; South Asian 54.6%; Americas 33.4%; Ashkenazi 32.7%; Finnish 41.5%; Middle Eastern 48.1%; Amish 54.3%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Organ Systems
Bone, Joint & Connective Tissue Health
Bone Mineral Density. Evidence: 4/10. Source: PMID 30963970. Lower Density.
Respiratory Health
Asthma. Evidence: 4/10. Source: PMID 31654764. Increased Risk.
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 3/10. Source: PMID 33590380. Lower Risk.
Lipids & Cholesterol
Cholesterol Levels. Evidence: 3/10. Source: PMID 30119682. Higher LDL.
Showing effects for A/G genotype
Bone Mineral Density. Evidence: 4/10. Source: PMID 30963970. Slightly Lower.
Asthma. Evidence: 4/10. Source: PMID 31654764. Typical Risk.
Heart Disease. Evidence: 3/10. Source: PMID 33590380. Slightly Higher Risk.
Cholesterol Levels. Evidence: 3/10. Source: PMID 30119682. Typical LDL.
Showing effects for G/G genotype
Bone Mineral Density. Evidence: 4/10. Source: PMID 30963970. Higher Density.
Asthma. Evidence: 4/10. Source: PMID 31654764. Lower Risk.
Heart Disease. Evidence: 3/10. Source: PMID 33590380. Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Inheriting two copies of the A allele leads to the production of the longer, less transcriptionally active form of the vitamin D receptor [1]. This reduced receptor activity is consistently linked to lower bone mineral density and an elevated risk of osteoporosis and fractures [2]. On the respiratory front, this genotype is associated with a higher susceptibility to asthma and severe respiratory infections [3]. However, some cardiovascular studies suggest this genetic profile may correlate with a lower risk of coronary artery disease compared to G/G carriers [4]. Pharmacogenomic research indicates a potentially better response to certain antiviral and antibiotic therapies [5].
Lower bone mineral density; Increased risk of osteoporosis; Higher susceptibility to asthma.
Sample genotype: AG (Heterozygous)
Possessing one A allele and one G allele results in a mixture of both the longer and shorter vitamin D receptor proteins [1]. This intermediate state generally translates to typical bone mineral density and a standard baseline risk for osteoporosis [2]. Cardiovascular risk profiles, including susceptibility to coronary artery disease and blood pressure levels, remain close to population averages [3]. Respiratory health and immune responses to infections do not show the elevated risks seen in A/A homozygotes [4]. In clinical settings, individuals with this genotype show standard responses to vitamin D supplementation and common medications [5].
Typical bone mineral density; Average risk of cardiovascular issues; Standard response to vitamin D.
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele leads to the exclusive production of the shorter, highly active vitamin D receptor [1]. This enhanced receptor activity facilitates superior calcium absorption, contributing to higher bone mineral density and a lower risk of osteoporosis [2]. It also supports robust immune defenses, correlating with a lower risk of asthma and respiratory infections [3]. However, this highly active receptor profile is linked to an increased risk of coronary artery disease and hypertension in several populations [4]. Additionally, individuals with this genotype may experience a higher risk of fractures specifically when undergoing high-dose calcitriol therapy [5].
Higher bone mineral density; Lower risk of asthma; Increased risk of coronary artery disease.
Variants with shared genetic architecture
rs739837 · VDR Gene · Chr 12 · Skin Cancer Risk
rs11568820 · VDR Gene · Chr 12 · Bone Health and Density
rs1544410 · VDR Gene · Chr 12 · Osteoporosis Risk
Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females.
Genetic influence on circulating vitamin D among Saudi Arabians.
VDR and TNFSF11 polymorphisms are associated with osteoporosis in Thai patients.
Content updated August 2026.
ReadYourDNA provides educational interpretation of DNA data you already have. It is not diagnostic, not a substitute for professional medical advice, diagnosis, or treatment, and is not intended to diagnose, treat, cure, or prevent any disease. Talk to a clinician before acting on any result.
Raw DNA Data Reports for 23andMe & AncestryDNA · About ReadYourDNA · FAQ · Methodology & Science · Pricing · Support and complaints · Legal & Contact · Health Traits · Pharmacogenomics · Carrier Status · Variant Explorer · The Human Karyotype · Privacy Policy · Terms of Service · Accessibility · Consumer Health Data Privacy · Your Privacy Choices · Editorial Standards · Your Data, Checkable · Sample Report · ReadYourDNA and Promethease compared · What is inside a 23andMe raw data file · What is inside an AncestryDNA raw data file · What a chatbot can and cannot do with your raw DNA file · Where a raw DNA file can still be uploaded in 2026
Written, maintained and operated by Martin Pechhacker, sole proprietor, Vienna, Austria. Trade register GISA 40064420. support@readyourdna.com