What you carry at this position in your DNA and what research says about it.
Blood Pressure Regulation: 8/10 evidence, 15 publications.
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Sample genotype (not yours): A/A
Typical Hypertension Risk
Normal enzyme function supports typical blood pressure regulation and sodium clearance.
What this genotype means: Normal 20-HETE production; Typical sodium excretion; Standard cardiovascular risk profile.
Sample genotype (not yours): A/G
Increased Hypertension Risk
Reduced enzyme activity may impair sodium clearance, raising susceptibility to high blood pressure.
What this genotype means: Reduced 20-HETE synthesis; Increased sensitivity to dietary salt; Elevated risk of high blood pressure.
Sample genotype (not yours): G/G
Highest Hypertension Risk
Significantly reduced enzyme activity elevates the risk of high blood pressure and alters medication response.
What this genotype means: Minimal 20-HETE production; Pronounced salt-sensitive blood pressure; Altered response to specific blood pressure therapies.
Gene function and biological role
Gene Function: The CYP4A11 gene encodes a key cytochrome P450 enzyme responsible for metabolizing arachidonic acid into 20-hydroxyeicosatetraenoic acid (20-HETE) [1]. This lipid mediator plays a critical role in regulating vascular tone, blood vessel constriction, and sodium excretion in the kidneys [1]. Proper enzyme function is essential for maintaining healthy blood pressure and cardiovascular homeostasis [2]. Disruptions in this pathway can lead to impaired sodium clearance and increased vascular resistance [1].
Variant Impact: The rs1126742 variant, also known as T8590C, causes a missense mutation (p.Phe434Ser) in the CYP4A11 enzyme [1]. This amino acid substitution replaces phenylalanine with serine, which significantly reduces the enzyme's catalytic activity and stability [1]. Because of this loss of function, the body produces less 20-HETE, impairing its ability to excrete excess sodium [1]. This molecular change is widely studied for its direct impact on blood pressure regulation and susceptibility to hypertension [3].
Key Insight: The loss-of-function variant in this gene reduces the body's ability to process sodium, making blood pressure highly sensitive to dietary salt intake.
Location: CYP4A11. Chromosome 1 · 1p33 · 46.9 Mb
Estimated prevalence by population
Global 65.4%; European 74.6%; African 47.4%; East Asian 59.9%; South Asian 51.3%; Americas 70.7%; Ashkenazi 75.9%; Finnish 74.8%; Middle Eastern 67.2%; Amish 64.6%.
Estimated AA genotype frequency.
Global 30.2%; European 23.6%; African 42.9%; East Asian 35.0%; South Asian 40.7%; Americas 26.8%; Ashkenazi 22.4%; Finnish 23.4%; Middle Eastern 29.6%; Amish 31.6%.
Estimated AG genotype frequency.
Global 4.4%; European 1.9%; African 9.7%; East Asian 5.1%; South Asian 8.1%; Americas 2.5%; Ashkenazi 1.7%; Finnish 1.8%; Middle Eastern 3.3%; Amish 3.9%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Hypertension
Hypertension. Evidence: 4/10. Source: PMID 24164311. Typical Risk.
Pharmacogenomics
Drug Metabolism Enzyme Activity
Medication Response. Evidence: 5/10. Source: PMID 25064769. Typical Response.
Nutrition & Metabolism
Macronutrient Metabolism
Fatty Acid Levels. Evidence: 8/10. Source: PMID 35050183. Typical Levels.
Showing effects for A/G genotype
Hypertension. Evidence: 4/10. Source: PMID 24164311. Increased Risk.
Fatty Acid Levels. Evidence: 8/10. Source: PMID 35050183. Slightly Higher.
Showing effects for G/G genotype
Hypertension. Evidence: 4/10. Source: PMID 24164311. Highest Risk.
Medication Response. Evidence: 5/10. Source: PMID 25064769. Poorer Response.
Fatty Acid Levels. Evidence: 8/10. Source: PMID 35050183. Higher Levels.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Two copies of the reference A allele encode the fully functional phenylalanine residue at position 434 of the enzyme [1]. This allows for optimal synthesis of 20-HETE, which helps the kidneys excrete sodium and maintains healthy blood vessel dilation [1]. Clinical studies associate this genotype with typical blood pressure levels and a normal risk of developing essential hypertension [2]. Response to common blood pressure medications, including diuretics, is generally typical [3]. Maintaining a balanced lifestyle and standard sodium intake supports cardiovascular health.
Normal 20-HETE production; Typical sodium excretion; Standard cardiovascular risk profile.
Sample genotype: AG (Heterozygous)
One copy of the G variant allele leads to a partial loss of CYP4A11 enzyme activity [1]. With lower levels of functional enzyme, the production of 20-HETE is reduced, which can hinder the kidneys' ability to efficiently flush out excess sodium [1]. This reduction in sodium clearance is linked to a higher risk of developing essential hypertension, particularly in men [2]. Individuals with this genotype may experience blood pressure that is more sensitive to dietary salt intake [1]. Monitoring sodium consumption and maintaining an active lifestyle are practical ways to support cardiovascular wellness.
Reduced 20-HETE synthesis; Increased sensitivity to dietary salt; Elevated risk of high blood pressure.
Sample genotype: GG (Homozygous)
Two copies of the G variant allele result in a severe reduction of CYP4A11 enzyme activity [1]. This profound loss of function drastically limits the synthesis of 20-HETE, impairing renal sodium excretion and promoting blood vessel constriction [1]. Clinical research associates this genotype with the highest risk of essential hypertension and salt-sensitive blood pressure elevation [2]. Additionally, studies suggest a poorer blood pressure response to certain medications like spironolactone and amiloride [1]. Managing dietary sodium intake and working closely with a healthcare provider to monitor cardiovascular health are highly relevant strategies.
Minimal 20-HETE production; Pronounced salt-sensitive blood pressure; Altered response to specific blood pressure therapies.
Variants with shared genetic architecture
rs1173771 · NPR3 Gene · Chr 5 · Blood Pressure Risk
rs1458038 · FGF5 Gene · Chr 4 · Blood Pressure
rs167479 · RGL3 Gene · Chr 19 · Blood Pressure Risk
A haplotype of the CYP4A11 gene associated with essential hypertension in Japanese men.
Content updated August 2026.
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