Understanding rs11562975: Genetic Variation and Vitamin D
The rs11562975 variant is a genetic marker often studied in the context of the CYP2R1 gene, which plays a critical role in how the body processes vitamin D. This variant is associated with individual differences in the efficiency of converting sunlight into active vitamin D levels.
What each genotype means
Typical Vitamin D Metabolism
This genotype represents the most common genetic configuration for this specific location. Research indicates that individuals with this profile typically maintain standard efficiency in the body's conversion of sunlight into active Vitamin D. Please consult with your healthcare provider or a registered dietitian to ensure your Vitamin D intake and sun exposure are appropriate for your individual health needs.
This is the most common genotype observed globally.
Varied Vitamin D Metabolism
This genotype includes one copy of the variant allele, which may be associated with subtle differences in how your body processes Vitamin D. While this variant is often studied in the context of Vitamin D levels, individual results can vary significantly based on diet, lifestyle, and other genetic factors. You should discuss your Vitamin D status and any supplementation needs with your clinician or pharmacist.
This genotype is found in a significant portion of the population, consistent with the 20% global frequency noted for this variant.
Potential Vitamin D Sensitivity
This genotype carries two copies of the variant allele, which may influence the efficiency of the enzyme responsible for converting sunlight into active Vitamin D. Statistical associations suggest that individuals with this profile might have different requirements for maintaining optimal Vitamin D levels compared to those with the CC genotype. Please discuss your specific Vitamin D levels and potential supplementation strategies with your healthcare provider.
This genotype is less common than the CC or CG configurations in most global populations.
What is rs11562975 and Where is it Located?
The rs11562975 variant is a single nucleotide polymorphism, or SNP, which represents a specific location in the human genome where a single DNA building block, or nucleotide, differs between individuals. This variant is situated on chromosome 2. While some early database records have associated this specific SNP with the TRPM8 gene, it is frequently discussed in broader research regarding vitamin D metabolism pathways, particularly in relation to the CYP2R1 gene. SNPs like rs11562975 are common, and they serve as important markers for researchers trying to understand how subtle variations in our genetic code contribute to the wide range of physiological differences observed across the human population. By studying these specific positions, scientists can better map the complex relationship between our inherited DNA and various biological traits.
The Role of CYP2R1 in Vitamin D Metabolism
The CYP2R1 gene provides instructions for making an enzyme known as vitamin D 25-hydroxylase. This enzyme is a key player in the body's vitamin D pathway, as it performs the essential first step of converting vitamin D—whether obtained from sunlight or dietary sources—into 25-hydroxyvitamin D. This intermediate form is the primary circulating version of vitamin D in the bloodstream and is the standard marker used by clinicians to assess a person's vitamin D status. When the CYP2R1 enzyme functions optimally, the body can efficiently process vitamin D into the forms necessary for maintaining bone health and supporting immune function. Genetic variations that affect the expression or function of this enzyme can lead to differences in how effectively an individual maintains their vitamin D levels, which is why this gene is a major focus of metabolic research.
Research Associations and Evidence Strength
Research into rs11562975 and related variants in the CYP2R1 region has provided moderate evidence linking these genetic markers to variations in vitamin D status. Large-scale genome-wide association studies have consistently identified the CYP2R1 locus as a significant contributor to the regulation of 25-hydroxyvitamin D levels. While some variants in this gene have been linked to rare, severe forms of vitamin D deficiency, common SNPs like rs11562975 are generally associated with more subtle, population-level differences in vitamin D homeostasis. It is important to note that vitamin D levels are influenced by a complex interplay of genetics, environmental factors like sun exposure, and dietary intake. Therefore, while genetic associations are statistically significant, they do not act in isolation, and the strength of these associations can vary depending on the population being studied.
What You Can and Cannot Do With This Information
Understanding your genetic profile regarding vitamin D metabolism can be an interesting way to learn about your biological predispositions, but it is not a substitute for professional medical advice. You cannot use this information to diagnose a vitamin D deficiency or to determine your specific nutritional needs. Vitamin D status is dynamic and heavily influenced by your lifestyle, including your geographic location, time spent outdoors, and diet. If you are concerned about your vitamin D levels, the most reliable approach is to consult with a healthcare provider who can order a blood test to measure your actual 25-hydroxyvitamin D levels. Never make changes to your diet or supplement regimen based solely on genetic data without first discussing your health goals and any potential dosing with your clinician or a registered pharmacist.
How common is this variant?
The rs11562975 variant is found globally with a frequency of approximately 20%, though specific genotype distributions can vary significantly across different ancestral populations.
Frequently asked questions
Does having this variant mean I have a vitamin D deficiency?
No, having a specific genotype for rs11562975 does not mean you have a vitamin D deficiency. Genetic variants only provide information about your predisposition, and actual vitamin D levels are primarily determined by environmental factors like sun exposure and diet.
Should I take vitamin D supplements based on my genotype?
You should not start or change a supplement regimen based on genetic results. Always consult with your doctor or pharmacist to determine if supplementation is appropriate for your specific health needs.
How can I find out my vitamin D levels?
The only way to accurately determine your vitamin D status is through a blood test ordered by a healthcare professional. This test measures the amount of 25-hydroxyvitamin D currently circulating in your blood.
Is this variant the same as the ones that cause rickets?
While the CYP2R1 gene is associated with rare, severe forms of vitamin D-dependent rickets, common variants like rs11562975 are generally associated with normal, population-level variation in vitamin D metabolism rather than clinical disease.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is associated with variations in Vitamin D metabolism and circulating levels of 25(OH)D.
This variant in the CYP2R1 gene, which encodes a key vitamin D 25-hydroxylase, is associated with altered serum 25-hydroxyvitamin D concentrations.
Associated with altered hepatic 25-hydroxylase enzyme levels and baseline circulating serum 25-hydroxyvitamin D concentrations.
Influences hepatic 25-hydroxylation efficiency and circulating 25-hydroxyvitamin D concentrations.
This variant in the CYP2R1 gene is associated with circulating 25-hydroxyvitamin D levels and, in rare cases, pathogenic variants in this gene can cause vitamin D-dependent rickets type 1B.