What you carry at this position in your DNA and what research says about it.
Blood Pressure and Heart Risk: 8/10 evidence, 21 publications.
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Sample genotype (not yours): A/A
Higher Blood Pressure and Hypertension Risk
Two copies of the A allele are linked to higher blood pressure and an increased risk of hypertension. This genotype is also associated with a slightly higher risk of cardiovascular events.
What this genotype means: Higher systolic and diastolic blood pressure; Increased risk of hypertension; Slightly higher risk of heart attack.
Sample genotype (not yours): A/G
Lower Blood Pressure and Hypertension Risk
Carrying one copy of the protective G allele is associated with lower blood pressure and a reduced risk of hypertension. This genotype helps buffer against cardiovascular risks.
What this genotype means: Lower blood pressure levels; Reduced risk of hypertension; Lower risk of cardiovascular events.
Sample genotype (not yours): G/G
Lowest Blood Pressure and Hypertension Risk
Two copies of the protective G allele are associated with the lowest blood pressure and a significantly reduced risk of hypertension. This genotype offers strong protection for cardiovascular health.
What this genotype means: Lowest blood pressure levels; Significantly reduced risk of hypertension; Lower risk of heart attack and coronary artery disease.
Gene function and biological role
Gene Function: The CYP17A1 gene encodes an enzyme called cytochrome P450c17, which plays a central role in the steroidogenesis pathway. This enzyme is primarily active in the adrenal glands and gonads, where it helps convert cholesterol into steroid hormones, including aldosterone, cortisol, and sex hormones. Aldosterone is a key hormone that regulates sodium and water balance in the kidneys, directly influencing blood volume and blood pressure. Variations in this gene can alter enzyme expression or activity, shifting hormone ratios and affecting cardiovascular health.
Variant Impact: The rs1004467 variant is an intronic change located within the CYP17A1 gene. Although it does not directly change the amino acid sequence of the protein, it is strongly linked to changes in gene expression. The major A allele is associated with higher expression of the enzyme, leading to increased production of mineralocorticoids like aldosterone, which raises blood pressure. Conversely, the minor G allele is associated with lower expression levels, acting as a protective factor against hypertension.
Key Insight: The minor G allele of this variant acts as a natural protective factor, lowering the expression of a key hormone-producing enzyme to help maintain healthy blood pressure and cholesterol levels.
Location: CYP17A1. Chromosome 10 · 10q24.32 · 102.8 Mb
Estimated prevalence by population
Global 74.2%; European 81.1%; African 66.2%; East Asian 43.1%; South Asian 60.1%; Americas 70.4%; Ashkenazi 82.7%; Finnish 83.3%; Middle Eastern 82.5%; Amish 96.5%.
Estimated AA genotype frequency.
Global 23.5%; European 17.9%; African 30.3%; East Asian 45.1%; South Asian 34.8%; Americas 27.0%; Ashkenazi 16.5%; Finnish 15.9%; Middle Eastern 16.7%; Amish 3.4%.
Estimated AG genotype frequency.
Global 2.3%; European 1.0%; African 3.5%; East Asian 11.8%; South Asian 5.0%; Americas 2.6%; Ashkenazi 0.8%; Finnish 0.8%; Middle Eastern 0.8%; Amish < 0.1%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 8/10. Source: PMID 19430479. Increased Pressure.
Hypertension. Evidence: 8/10. Source: PMID 25990650. Increased Risk.
Heart Disease
Heart Attack. Evidence: 4/10. Source: PMID 26343387. Increased Risk.
Neurology & Mental Health
Mood Disorders
Mood and Well-being. Evidence: 6/10. Source: PMID 30643256. Increased Symptoms.
Showing effects for A/G genotype
Blood Pressure. Evidence: 8/10. Source: PMID 19430479. Lower Pressure.
Hypertension. Evidence: 8/10. Source: PMID 25990650. Reduced Risk.
Heart Attack. Evidence: 4/10. Source: PMID 26343387. Reduced Risk.
Mood and Well-being. Evidence: 6/10. Source: PMID 30643256. Typical.
Showing effects for G/G genotype
Blood Pressure. Evidence: 8/10. Source: PMID 19430479. Lowest Pressure.
Hypertension. Evidence: 8/10. Source: PMID 25990650. Lowest Risk.
Heart Attack. Evidence: 4/10. Source: PMID 26343387. Lowest Risk.
Mood and Well-being. Evidence: 6/10. Source: PMID 30643256. Reduced Symptoms.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Elevated systolic and diastolic blood pressure levels are commonly observed in individuals carrying two copies of the A allele. This genotype is associated with a significantly higher risk of developing essential hypertension. The underlying biological mechanism involves increased expression of the CYP17A1 enzyme, which can lead to higher aldosterone levels and subsequent sodium retention. Over time, this chronic pressure elevation contributes to a higher risk of cardiovascular complications, including myocardial infarction. Additionally, some research suggests a potential link between this genotype and increased susceptibility to depressive symptoms or neuroticism. Maintaining a healthy lifestyle with regular exercise and a low-sodium diet is particularly beneficial for managing these risks.
Higher systolic and diastolic blood pressure; Increased risk of hypertension; Slightly higher risk of heart attack.
Sample genotype: AG (Heterozygous)
Reduced susceptibility to high blood pressure is a key benefit of carrying one copy of the protective G allele. This genotype is associated with lower expression of the CYP17A1 enzyme, which helps prevent excessive aldosterone production and sodium retention. By maintaining healthier hormone levels, individuals with this genotype tend to have lower blood pressure and reduced arterial stiffness. The protective effect of the G allele is dominant, meaning even a single copy helps lower the risk of developing essential hypertension. Furthermore, this genetic profile is linked to a lower risk of coronary artery disease and myocardial infarction compared to the common A/A genotype. Supporting these genetic advantages with a balanced lifestyle can further optimize long-term cardiovascular health.
Lower blood pressure levels; Reduced risk of hypertension; Lower risk of cardiovascular events.
Sample genotype: GG (Homozygous)
The lowest blood pressure levels and the most significant protection against hypertension are associated with carrying two copies of the G allele. This genotype is linked to lower expression of the CYP17A1 enzyme, which helps prevent excessive aldosterone production and sodium retention. As a result, individuals with this genotype are less likely to experience high blood pressure or arterial stiffness. The protective effect also extends to a lower risk of coronary artery disease and myocardial infarction. Additionally, this genotype is associated with lower total cholesterol levels, further supporting overall heart health. These combined factors contribute to a highly favorable cardiovascular profile.
Lowest blood pressure levels; Significantly reduced risk of hypertension; Lower risk of heart attack and coronary artery disease.
Variants with shared genetic architecture
rs17115100 · CYP17A1 Gene · Chr 10 · Heart Attack Risk
rs6163 · CYP17A1 Gene · Chr 10 · Body Fat Distribution
rs743572 · CYP17A1 Gene · Chr 10 · Hormone-Related Health Risks
Content updated August 2026.
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