What you carry at this position in your DNA and what research says about it.
Bone and Heart Health: 5/10 evidence, 52 publications.
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Sample genotype (not yours): C/C
Stronger Bones but Higher Heart Risk
This genotype is associated with higher bone mineral density but carries an increased risk of coronary artery disease. It also correlates with a poorer response to certain standard medical treatments.
What this genotype means: Lower risk of osteoporosis; Higher risk of coronary artery disease; Poorer response to H pylori triple therapy.
Sample genotype (not yours): A/A
Lower Heart Risk but Weaker Bones
This genotype is linked to a lower risk of heart disease and excellent medication responses, but it increases the risk of osteoporosis and asthma.
What this genotype means: Higher risk of osteoporosis; Lower risk of coronary artery disease; Excellent response to H pylori triple therapy.
Sample genotype (not yours): C/A
Balanced Bone Health and Better Drug Response
This genotype offers a balanced profile, maintaining typical bone and heart risks while benefiting from improved responses to specific medications.
What this genotype means: Typical bone mineral density; Typical risk of coronary artery disease; Better response to H pylori triple therapy.
Gene function and biological role
Gene Function: The VDR gene encodes the vitamin D receptor, a nuclear hormone receptor that binds to the active form of vitamin D [1]. Once activated, this receptor acts as a transcription factor, regulating the expression of hundreds of genes involved in calcium absorption, bone mineralization, and immune system homeostasis [2]. It is highly expressed in key tissues such as the small intestine, kidneys, bones, and immune cells. Variations in this gene can alter receptor expression levels and mRNA stability, thereby influencing how effectively the body utilizes vitamin D [3].
Variant Impact: The rs7975232 variant, commonly known as the ApaI polymorphism, is located in an intron near the 3 prime end of the VDR gene. Because it is an intronic variant, it does not change the amino acid sequence of the receptor protein itself [1]. Instead, it is believed to influence the stability of VDR messenger RNA and regulate receptor expression levels [3]. This molecular change ultimately impacts downstream vitamin D signaling, affecting bone density, cardiovascular health, and inflammatory responses [2].
Key Insight: This single genetic letter change creates a distinct biological trade-off, where the allele that protects your heart and improves medication responses simultaneously increases your risk for weaker bones and asthma.
Location: VDR. Chromosome 12 · 12q13.11 · 47.8 Mb
Estimated prevalence by population
Global 20.8%; European 22.3%; African 13.9%; East Asian 50.4%; South Asian 19.5%; Americas 24.6%; Ashkenazi 17.4%; Finnish 20.2%; Middle Eastern 19.8%; Amish 16.9%.
Estimated CC genotype frequency.
Global 48.6%; European 49.8%; African 46.8%; East Asian 41.2%; South Asian 49.3%; Americas 50.0%; Ashkenazi 48.6%; Finnish 49.5%; Middle Eastern 49.4%; Amish 48.4%.
Estimated CA genotype frequency.
Global 30.6%; European 27.9%; African 39.3%; East Asian 8.4%; South Asian 31.2%; Americas 25.4%; Ashkenazi 34.0%; Finnish 30.3%; Middle Eastern 30.8%; Amish 34.7%.
Estimated AA genotype frequency.
Showing effects for C/C genotype
Organ Systems
Bone, Joint & Connective Tissue Health
Osteoporosis. Evidence: 5/10. Lower Risk.
Digestive & Gut Disorders
H. Pylori Treatment Response. Evidence: 5/10. Source: PMID 37449247. Poorer Response.
Respiratory Health
Asthma. Evidence: 3/10. Source: PMID 31719947. Lower Risk.
Cardiovascular & Metabolic
Heart Disease
Heart Disease. Evidence: 3/10. Source: PMID 33590380. Higher Risk.
Pharmacogenomics
Immunosuppressant & Biologic Response
Anti-TNF Drug Response. Evidence: 5/10. Source: PMID 39522115. Poorer Response.
Showing effects for A/A genotype
Osteoporosis. Evidence: 5/10. Higher Risk.
H. Pylori Treatment Response. Evidence: 5/10. Source: PMID 37449247. Stronger Response.
Asthma. Evidence: 3/10. Source: PMID 31719947. Higher Risk.
Heart Disease. Evidence: 3/10. Source: PMID 33590380. Lower Risk.
Anti-TNF Drug Response. Evidence: 5/10. Source: PMID 39522115. Stronger Response.
Showing effects for C/A genotype
Osteoporosis. Evidence: 5/10. Typical Risk.
Heart Disease. Evidence: 3/10. Source: PMID 33590380. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Having two copies of the C allele is generally favorable for skeletal health, as it is linked to higher bone mass and better bone structure. However, meta-analyses show that this genotype is associated with a thirteen percent higher risk of coronary artery disease compared to the A/A genotype [1]. Additionally, clinical studies indicate that individuals with this genotype have a higher rate of treatment failure when undergoing standard triple therapy for Helicobacter pylori infections [2]. They also show a reduced response and lower remission rates when treated with anti-TNF biological therapies for autoimmune conditions like rheumatoid arthritis [3]. Finally, this genotype appears to offer some protection against developing asthma [4].
Lower risk of osteoporosis; Higher risk of coronary artery disease; Poorer response to H pylori triple therapy; Poorer response to anti-TNF medications.
Sample genotype: AA (Homozygous)
Having two copies of the A allele is highly protective for the cardiovascular system, correlating with a thirteen percent lower risk of coronary artery disease [1]. On the other hand, this genotype is a known risk factor for lower bone mineral density and osteoporosis, particularly in postmenopausal women. From a medical standpoint, individuals with this genotype respond exceptionally well to treatments, showing high success rates for Helicobacter pylori eradication [2]. They also achieve better clinical remission and lower disease activity scores when treated with anti-TNF therapies [3]. However, they do carry a higher susceptibility to developing asthma compared to C allele carriers [4].
Higher risk of osteoporosis; Lower risk of coronary artery disease; Excellent response to H pylori triple therapy; Better response to anti-TNF medications.
Sample genotype: CA (Heterozygous)
Carrying one copy of each allele represents a balanced genetic profile for bone and cardiovascular health. Individuals with this heterozygous genotype generally exhibit typical bone mineral density and average baseline risks for coronary artery disease [1]. However, they benefit from significantly better outcomes when treated with standard therapies [2]. Clinical data shows they have a higher rate of successful Helicobacter pylori eradication using standard triple therapy [2]. They also demonstrate improved responses, lower disease activity, and higher remission rates when prescribed anti-TNF biological therapies for autoimmune diseases [3]. Furthermore, this genotype is associated with a lower risk of developing asthma [4].
Typical bone mineral density; Typical risk of coronary artery disease; Better response to H pylori triple therapy; Better response to anti-TNF medications.
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
Content updated August 2026.
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