CYP19A1 rs28757157: What Your Genotype Means
The rs28757157 variant is a specific genetic polymorphism located within the CYP19A1 gene. Research has explored its potential association with the risk of ischemic stroke, particularly among individuals who consume alcohol.
What each genotype means
Baseline risk profile
This is the most common genotype for this variant in many populations. Research indicates that individuals with this genotype do not show the increased risk of ischemic stroke associated with the C allele in the context of alcohol consumption.
This is the major homozygous genotype and is the most frequently observed in global populations.
Increased risk in drinkers
Carrying one copy of the C allele has been associated with an increased risk of ischemic stroke specifically among individuals who consume alcohol. If you consume alcohol, you may wish to discuss your cardiovascular health and lifestyle factors with your healthcare provider.
This heterozygous genotype is less common and is observed at varying frequencies depending on ancestral background.
Elevated risk in drinkers
Carrying two copies of the C allele is associated with a higher statistical risk of ischemic stroke in studies of individuals who drink alcohol. This association is specific to the interaction between this genetic variant and alcohol intake; please consult with a clinician regarding your overall stroke risk profile.
This is a rare genotype, occurring infrequently in the general population.
Understanding the rs28757157 Variant
The rs28757157 variant is a single nucleotide polymorphism (SNP) found within the CYP19A1 gene, which is located on chromosome 15 at position 15q21.2. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. While many SNPs have no observable effect on health, researchers study them to determine if they correlate with specific traits or disease risks. This particular variant is categorized as a trait-associated marker. Because it is located in a gene involved in complex hormonal pathways, scientists investigate whether variations here might influence physiological processes that contribute to vascular health. It is important to note that the presence of a specific SNP does not guarantee the development of any condition, as complex diseases like stroke are influenced by a combination of genetic, environmental, and lifestyle factors.
The Role of the CYP19A1 Gene
The CYP19A1 gene provides the instructions for the body to produce an enzyme known as aromatase. Aromatase is a member of the cytochrome P450 superfamily of enzymes, which are essential for various metabolic processes. Its primary function is to catalyze the conversion of androgens—often referred to as male sex hormones—into estrogens, which are the primary female sex hormones. This conversion process is critical for maintaining hormonal balance and plays a significant role in growth, development, and the regulation of various tissues throughout the body. Because estrogen influences vascular function and inflammation, researchers have hypothesized that variations in the CYP19A1 gene might alter aromatase activity, potentially impacting how the body responds to cardiovascular stressors. Understanding this gene is vital for grasping how hormonal regulation intersects with broader systemic health.
Research and Evidence Strength
Current evidence regarding rs28757157 is considered moderate and is largely derived from specific population studies. Research, such as a study published in Pharmacogenomics and Personalized Medicine, has identified a statistical association between this variant and the risk of ischemic stroke, specifically within cohorts of alcohol drinkers in the Chinese Han population. In these studies, the C allele was observed to have a higher frequency in individuals who experienced ischemic stroke compared to control groups within the drinking demographic. It is crucial to understand that these findings represent statistical correlations observed in specific groups rather than a direct cause-and-effect relationship. The evidence is currently limited to these specific contexts, and further research across diverse ancestral backgrounds is necessary to determine if this association holds true globally or if it is unique to specific environmental and genetic interactions.
Population Frequency and Interpretation
The rs28757157 variant is generally considered rare in the broader human population. Genetic frequency can vary significantly depending on ancestral background, and because this variant is not a common feature across all global populations, its impact may be highly localized. When interpreting genetic data, it is important to remember that a 'rare' variant does not necessarily imply a high risk, nor does a 'common' variant imply safety. Instead, these markers serve as tools for researchers to map the complex architecture of human disease. Because the association with stroke risk is linked to specific lifestyle factors like alcohol consumption, the variant's clinical relevance is highly dependent on the individual's environment. Genetic data should always be viewed as one piece of a much larger puzzle that includes family history, lifestyle, and clinical assessments by healthcare professionals.
What You Can Do With This Information
If you have information about your rs28757157 genotype, it is important to use it as a starting point for a conversation with your doctor rather than as a diagnostic tool. This information is for educational purposes and cannot predict your personal health outcomes. Because this variant is associated with stroke risk in the context of alcohol consumption, the most actionable step is to maintain a healthy lifestyle, which includes managing alcohol intake, monitoring blood pressure, and following standard cardiovascular health guidelines. You should never make changes to your medical care or lifestyle based solely on a genetic report. If you are concerned about your risk for stroke or other cardiovascular conditions, consult with a physician or a genetic counselor who can evaluate your entire health profile, including your medical history and other established risk factors.
How common is this variant?
The rs28757157 variant is considered rare, with its frequency and associated risk profiles varying significantly across different ancestral populations.
Frequently asked questions
Does having the C allele mean I will have a stroke?
No. A genetic association is a statistical observation in a population, not a medical diagnosis. Many factors, including diet, exercise, and overall health, play a much larger role in stroke risk than any single genetic variant.
Is rs28757157 a common genetic marker?
No, this variant is considered rare. Its presence and the strength of its association with health traits can differ significantly depending on your ancestry.
Should I change my alcohol consumption based on this SNP?
You should discuss your lifestyle choices and any concerns about your health with your primary care physician. They can provide personalized advice based on your full medical history rather than a single genetic marker.
Where can I find more information about the CYP19A1 gene?
You can visit reputable resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide comprehensive, peer-reviewed information about gene functions and their roles in human health.
Sources & further reading
Educational information only, last refreshed 9/21/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This regulatory variant in the aromatase gene is associated with circulating estradiol levels and the timing of natural menopause.
This variant in the aromatase gene is associated with circulating estrogen levels and influences the timing of natural menopause and cardiovascular risk profiles in postmenopausal women.
Pathogenic variant causing aromatase deficiency characterized by female pseudohermaphroditism, maternal virilization during pregnancy, and absent pubertal development.
Intronic variant in the CYP19A1 gene associated with circulating estradiol and follicle-stimulating hormone (FSH) levels in men.
Affects aromatase activity, influencing efficacy and toxicity in hormone-sensitive cancer treatments.
This variant in the aromatase gene is associated with variations in sex hormone levels and potential risk modulation for hormone-dependent reproductive cancers.