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CYP19A1 rs2414095: Understanding Aromatase Regulatory Variants

rs2414095
Trait
Limited evidenceGene: CYP19A1

The rs2414095 variant is a genetic marker located within the CYP19A1 gene, which provides instructions for the aromatase enzyme. Research has associated this specific variant with variations in circulating estrogen levels and potential impacts on reproductive cycle regulation.

What each genotype means

A/ALower attention

Typical baseline estrogen levels

You carry two copies of the common A allele for this CYP19A1 regulatory variant. In population studies, this genotype is associated with standard baseline circulating estradiol levels and typical aromatase expression. Because the overall scientific evidence for specific reproductive symptoms is limited and modest in effect, this genotype does not indicate an elevated risk of hormone-related irregularities.

Carried by roughly 70% to 75% of individuals of European ancestry, and common across global populations.

A/GLower attention

Slightly altered circulating estrogen

You carry one copy of the G minor allele at rs2414095. Research has linked this variant to slight differences in circulating estradiol concentrations and minor statistical variations in reproductive cycle parameters. Current evidence remains limited and observational, meaning it does not diagnose any endocrine condition or guarantee noticeable physiological changes.

Carried by approximately 25% of individuals of European ancestry, with varying frequencies across other ancestral groups.

G/GLower attention

Modified aromatase regulatory profile

You carry two copies of the G minor allele in the CYP19A1 gene locus. Genome-wide and candidate gene analyses indicate an association between this genotype and altered circulating estrogen levels compared to non-carriers. Given that published evidence is limited and non-diagnostic, any reproductive health concerns or hormone-related questions should be reviewed directly with a qualified healthcare provider.

Present in roughly 2% to 3% of individuals of European ancestry, representing an uncommon homozygous genotype.

What is the rs2414095 Variant?

The rs2414095 variant is a single nucleotide polymorphism (SNP) located within the CYP19A1 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is situated in a region of the gene that may influence how the body regulates the expression of the aromatase enzyme. Because it is located in a regulatory area rather than a coding region that directly changes the protein's structure, its primary effect is thought to be related to the timing or quantity of enzyme production. Scientists study such variants to understand how subtle differences in our genetic code contribute to the natural diversity of hormone levels observed across the human population.

The Role of the CYP19A1 Gene

The CYP19A1 gene is responsible for encoding the aromatase enzyme, a critical component of the endocrine system. Aromatase is primarily located in the endoplasmic reticulum of cells and performs the essential task of converting androgens—often referred to as male sex hormones—into estrogens, the primary female sex hormones. This process is vital for maintaining hormonal balance, which influences reproductive health, bone density, and various aspects of growth and differentiation. Because aromatase is the final step in estrogen biosynthesis, any variation that alters its expression or efficiency can theoretically influence the circulating levels of these hormones. Understanding this gene is central to research in reproductive endocrinology and the study of hormone-sensitive conditions.

Research Associations and Evidence Strength

Scientific research has identified associations between the rs2414095 variant and circulating estradiol levels, which are a form of estrogen. Studies, including those indexed in the GWAS Catalog, have linked this SNP to measurements of sex steroids in the blood. However, it is important to note that the evidence strength for this specific variant is currently considered limited. While statistical associations have been observed in various cohorts, these findings do not imply a direct cause-and-effect relationship for every individual. The biological impact of such regulatory variants is often subtle and can be influenced by a complex interplay of other genetic factors, environmental exposures, and lifestyle variables. Consequently, these associations are primarily used in research settings to better understand the genetic architecture of hormone regulation rather than for clinical prediction.

Population Frequency

The frequency of genetic variants can vary significantly depending on ancestral background. For the rs2414095 variant, current data indicates a minor allele frequency of approximately 0.15 in European populations. This means that the variant is relatively common, appearing in a significant portion of the population. Because frequency data is often derived from specific study cohorts, it is possible that these numbers differ in other global populations. Geneticists use this frequency information to determine if a variant is common enough to be considered a standard part of human genetic diversity or if it is a rare mutation that might have a more pronounced effect on biological function.

Interpreting Your Genetic Information

If you have received information about your rs2414095 genotype, it is important to view it within the context of current scientific understanding. This variant is a subject of ongoing research and is not currently used as a diagnostic tool for any medical condition. Genetic associations are statistical observations across large groups of people and cannot predict individual health outcomes. You cannot use this information to diagnose yourself or to make decisions about medical treatments or hormone-related therapies. If you have concerns about your reproductive health, hormone levels, or any symptoms you are experiencing, please consult with a qualified healthcare provider or a reproductive endocrinologist. They can provide personalized guidance based on your clinical history and professional medical testing, which is far more informative than a single genetic variant.

How common is this variant?

The rs2414095 variant has a minor allele frequency of approximately 0.15 in European populations, making it a common genetic variation.

Frequently asked questions

Can rs2414095 predict my estrogen levels?

No, this variant cannot predict your individual estrogen levels. While research has shown a statistical association between this SNP and hormone levels in large groups, it is not a diagnostic test for an individual's hormone status.

Is rs2414095 linked to any diseases?

The variant is studied in the context of reproductive health and hormone regulation. However, it is not considered a causative factor for specific diseases, and current evidence regarding its clinical impact remains limited.

Should I change my diet based on this genotype?

There is no scientific evidence to suggest that your genotype for rs2414095 requires specific dietary changes. Always consult with a healthcare professional before making significant changes to your diet or lifestyle.

Where can I find more information on CYP19A1?

You can find reliable information about the CYP19A1 gene through resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive summaries of gene function and related research.

Sources & further reading

Educational information only, last refreshed 10/12/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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Related variants in CYP19A1