CYP19A1 rs59429575: What Your Genotype Means
The genetic variant rs59429575 is located within the CYP19A1 gene, which is responsible for producing the aromatase enzyme. Research has identified a statistical association between this specific variant and an increased risk of ischemic stroke, particularly in male populations.
What each genotype means
Baseline ischemic stroke risk
This genotype represents the common, non-risk version of the variant. Research indicates that individuals with this genotype do not carry the specific genetic association linked to increased ischemic stroke risk observed in the study population. This result should be interpreted in the context of overall health, as stroke risk is influenced by many lifestyle and environmental factors.
This is the most common genotype observed in the general population.
Elevated ischemic stroke risk
Carrying one copy of the G allele is associated with a statistically significant increase in the risk of ischemic stroke in certain clinical models. This association has been observed in specific populations, such as the Chinese Han population, where it was linked to higher risk in codominant and dominant models. Please discuss your overall cardiovascular health and stroke prevention strategies with your clinician.
This genotype is considered rare in the general population.
Increased ischemic stroke risk
Carrying two copies of the G allele is associated with a higher statistical risk of ischemic stroke compared to those without the variant. Clinical research has identified this specific genotype as a factor in allele-dependent risk stratification for ischemic stroke. As this is a complex trait, please consult with a healthcare provider to discuss your personal health history and appropriate preventative measures.
This genotype is rare and occurs at a low frequency in the general population.
Understanding the SNP and Its Location
The variant rs59429575 is a single nucleotide polymorphism (SNP) situated within the CYP19A1 gene. In human genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. The CYP19A1 gene is located on chromosome 15 at position 15q21.2. This specific region is known for its complexity, as the gene contains 18 exons and utilizes alternative promoters to regulate its expression across different tissues. Because this variant is located within a gene that plays a critical role in hormone metabolism, researchers often investigate it to determine if changes in the DNA sequence might influence how the body processes steroids, which in turn could impact various physiological systems, including the cardiovascular system.
The Role of the CYP19A1 Gene
The CYP19A1 gene provides the essential instructions for the body to produce an enzyme called aromatase. Aromatase is a member of the cytochrome P450 superfamily of enzymes and is primarily responsible for the aromatization of androgens into estrogens. This conversion process is a fundamental step in the biosynthesis of sex steroid hormones. Estrogen is not only vital for reproductive health but also plays significant roles in growth, differentiation, and the maintenance of vascular health in both males and females. Because aromatase activity is so central to hormonal balance, mutations or variations in the CYP19A1 gene can lead to a wide range of clinical outcomes, ranging from developmental differences to variations in how individuals respond to hormonal fluctuations throughout their lives.
Research Associations with Ischemic Stroke
Current research has explored the link between rs59429575 and the risk of ischemic stroke. Studies have observed that individuals carrying specific alleles of this variant may show a higher statistical likelihood of experiencing an ischemic stroke compared to those who do not. Notably, recent findings have suggested that this association may be more pronounced in males. For instance, clinical models have reported odds ratios indicating an increased risk for carriers of the variant allele. However, it is important to note that the evidence strength for this association is considered moderate. While these statistical correlations are significant in the context of the studies conducted, they do not imply a direct cause-and-effect relationship for every individual. Further large-scale, diverse population studies are required to fully understand the biological mechanisms that might link this specific aromatase-related variant to cerebrovascular health.
Population Frequency and Interpretation
The rs59429575 variant is classified as rare in the general population. Because its frequency is low, it is not commonly encountered in standard genetic screening panels, and its impact can vary significantly depending on an individual's ancestral background. When interpreting genetic data, it is crucial to remember that a statistical association found in a research study is a population-level observation, not a personal medical diagnosis. Genetic risk is only one piece of a much larger puzzle that includes lifestyle factors, diet, exercise, and other environmental influences. If you have concerns about your personal risk for stroke or cardiovascular disease, it is essential to discuss these factors with a qualified healthcare provider who can evaluate your complete medical history and provide personalized guidance.
How common is this variant?
The rs59429575 variant is considered rare across most global populations, with its specific frequency varying by ancestry.
Frequently asked questions
Does having the rs59429575 variant mean I will have a stroke?
No. A genetic association is a statistical observation in a population, not a medical prediction for an individual. Many factors, including blood pressure, smoking, and diet, play a much larger role in stroke risk than any single genetic variant.
Should I get tested for this variant?
Routine testing for this specific variant is not currently recommended for the general public. If you are concerned about your stroke risk, you should consult with a doctor to discuss evidence-based screening methods like blood pressure monitoring and cholesterol testing.
Can I change my risk if I have this genotype?
Genetic risk factors are fixed, but your overall health risk is highly modifiable. Focusing on heart-healthy habits, such as regular exercise, a balanced diet, and managing underlying conditions like hypertension, is the most effective way to reduce your risk of stroke.
Where can I find more information on CYP19A1?
You can visit the MedlinePlus Genetics website or the NCBI Gene database for comprehensive, peer-reviewed information on the CYP19A1 gene and its biological functions. These resources provide reliable summaries of how this gene affects human health.
Sources & further reading
Educational information only, last refreshed 10/16/2026. 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.