CYP19A1 rs749292: What Your Genotype Means
The rs749292 variant is a common genetic change located within the CYP19A1 gene. It has been studied for its potential influence on aromatase activity, which may affect how the body processes hormones and responds to certain hormone-sensitive cancer treatments.
What each genotype means
Baseline risk profile
This genotype is considered the baseline in studies examining the association between this variant and certain hormone-sensitive cancers. Research has observed that individuals with this genotype may have a lower statistical association with ovarian cancer risk compared to those carrying the G allele. Please discuss any concerns regarding cancer risk or hormone-sensitive treatment efficacy with your clinician.
This is a common genotype found in many populations globally.
Increased risk association
Research has indicated that carrying one copy of the G allele is associated with a higher statistical risk of ovarian cancer compared to the AA genotype. This variant may also influence how your body responds to certain hormone-modulating medications, such as letrozole, by affecting lipid levels. Please consult with your pharmacist or physician regarding your specific treatment plan and any necessary monitoring.
This is a common genotype observed across diverse ancestral groups.
Higher risk association
Studies have shown that individuals with this genotype may have a higher statistical association with ovarian cancer risk compared to those with the AA genotype. Additionally, this variant has been linked to variations in lipid level responses during treatment with aromatase inhibitors like letrozole. Because this evidence is based on population-level associations, please discuss your health history and medication management with your healthcare provider.
This genotype is frequently identified in population studies, though exact frequencies vary by ancestry.
Understanding the rs749292 Variant
The rs749292 variant is a single nucleotide polymorphism (SNP) located on chromosome 15 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 categorized as a common genetic marker, meaning it appears frequently across diverse human populations. Because it sits within the regulatory or coding regions of the CYP19A1 gene, researchers have investigated whether this specific change in the DNA sequence alters the expression or function of the resulting protein. While the variant is well-documented in genomic databases, it is important to note that its presence does not inherently indicate a health condition. Instead, it serves as a point of interest for scientists studying how subtle genetic differences might contribute to biological variability in hormone metabolism and individual responses to medical interventions.
The Role of the CYP19A1 Gene
The CYP19A1 gene provides the essential instructions for the body to produce an enzyme known as aromatase. Aromatase plays a critical role in the endocrine system by converting androgens—often referred to as male sex hormones—into estrogens, which are primary female sex hormones. This conversion process is vital for maintaining hormonal balance and supporting various physiological functions, including reproductive health and bone density. Because aromatase is the key enzyme responsible for estrogen synthesis, the activity levels of this enzyme can have significant downstream effects on hormone-sensitive tissues. In clinical contexts, particularly regarding hormone-sensitive cancers, aromatase is a frequent target for therapeutic drugs known as aromatase inhibitors. These medications work by blocking the enzyme's activity to lower estrogen levels, thereby slowing the growth of cancer cells that rely on estrogen to thrive. Consequently, variations in the CYP19A1 gene are of great interest to researchers studying drug efficacy.
Research Associations and Evidence Strength
Scientific research has explored the association between rs749292 and various health outcomes, including its potential impact on hormone-related cancer risks and treatment responses. Some studies have observed statistical associations between this variant and outcomes such as changes in triglyceride levels in patients undergoing specific hormone therapies, as well as potential links to ovarian and endometrial cancer risk in certain cohorts. However, the evidence strength for these associations is currently considered limited. Many of these findings are based on observational studies that may vary significantly by ancestry, study design, and sample size. It is crucial to understand that a statistical association in a research study does not establish a direct cause-and-effect relationship. Furthermore, because the evidence is mixed or ancestry-specific, these findings cannot be used to predict individual health outcomes or determine clinical treatment plans. The scientific community continues to investigate these links to better understand the complex interplay between genetics and hormone metabolism.
Population Frequency
The rs749292 variant is considered a common polymorphism, with the minor allele frequency observed at approximately 0.43 in global populations. This means that the variant is widely distributed across different ancestral groups, and most individuals will carry at least one copy of the variant allele.
Navigating Genetic Information
If you have received information about your rs749292 genotype, it is important to view it within the context of current scientific understanding. This variant is not a diagnostic tool, and it cannot determine your risk for cancer or your specific response to medication. Genetic factors are only one piece of a much larger puzzle that includes lifestyle, environment, and other complex biological interactions. You cannot use this information to make independent medical decisions, such as altering your medication dosage or skipping screenings. If you are concerned about how your genetics might influence your health or your response to a prescribed treatment, the most appropriate step is to discuss these findings with your clinician or a qualified pharmacist. They can provide personalized guidance based on your full medical history, current medications, and established clinical guidelines, ensuring that any decisions regarding your care are safe and evidence-based.
How common is this variant?
The rs749292 variant is a common polymorphism with a global minor allele frequency of approximately 0.43, meaning it is frequently found across diverse ancestral populations.
Frequently asked questions
Does rs749292 mean I have a higher risk of cancer?
No. While some studies have explored statistical associations between this variant and certain cancer risks, the evidence is limited and inconsistent. It is not a diagnostic marker for cancer risk.
Can I use this genotype to change my medication dose?
Absolutely not. You should never change your medication dosage based on genetic test results without consulting your doctor. Always speak with your clinician or pharmacist regarding your treatment plan.
What does the CYP19A1 gene actually do?
The CYP19A1 gene provides instructions for making the aromatase enzyme. This enzyme is responsible for converting androgens into estrogens in the body.
Is rs749292 a rare genetic mutation?
No, it is a common genetic variant. It is found frequently in the general population across many different ancestral groups.
Sources & further reading
Educational information only, last refreshed 9/30/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the aromatase gene is associated with variations in sex hormone levels and potential risk modulation for hormone-dependent reproductive cancers.
Aromatase gene polymorphism associated with circulating estradiol levels and altered susceptibility to postmenopausal osteoporosis and breast cancer.
Aromatase single-nucleotide variant modulating estrogen biosynthesis efficiency and postmenopausal hormone levels.
Intronic aromatase variant linked to variation in circulating estradiol levels and timing of natural menopause.
This variant in the aromatase gene is associated with cardiovascular risk in postmenopausal women and shows linkage disequilibrium with markers of hypertension.
This SNP forms a haplotype with rs10046 that has been clinically associated with hypertension in postmenopausal populations.