What you carry at this position in your DNA and what research says about it.
Blood Pressure and Kidney Risk: 4/10 evidence, 41 publications.
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Sample genotype (not yours): G/G
Higher Blood Pressure and Kidney Risk
This genotype is associated with elevated ACE enzyme activity, which can narrow blood vessels and raise blood pressure. It also increases the risk of developing kidney complications, particularly in individuals with diabetes.
What this genotype means: Elevated ACE enzyme activity; Increased risk of high blood pressure; Higher risk of diabetic kidney complications.
Sample genotype (not yours): A/A
Typical Blood Pressure and Kidney Risk
This genotype is associated with lower ACE enzyme activity, which supports more flexible blood vessels and a typical blood pressure profile. It also offers protection against diabetic kidney complications and is linked to endurance advantages.
What this genotype means: Lower ACE enzyme activity; Typical blood pressure profile; Lower risk of diabetic kidney complications.
Sample genotype (not yours): G/A
Moderately Elevated Blood Pressure and Kidney Risk
This genotype is associated with intermediate ACE enzyme activity, representing a balance between the insertion and deletion variants. It carries a slightly increased risk of high blood pressure and kidney complications compared to the baseline.
What this genotype means: Intermediate ACE enzyme activity; Slightly increased risk of high blood pressure; Moderate risk of diabetic kidney complications.
Gene function and biological role
Gene Function: The ACE gene encodes the angiotensin I converting enzyme, a key player in the renin-angiotensin system that regulates blood pressure and fluid balance [1]. It converts the inactive hormone angiotensin I into the active vasoconstrictor angiotensin II, which narrows blood vessels and increases blood pressure [2]. ACE also breaks down bradykinin, a natural vasodilator, further promoting blood vessel constriction [3]. Genetic variations in this gene are widely studied for their impact on cardiovascular health, kidney function, and physical performance [4].
Variant Impact: The rs4343 variant is a synonymous single nucleotide polymorphism located in exon 17 of the ACE gene [5]. Although it does not change the encoded amino acid, it is in near-perfect linkage disequilibrium with the famous ACE insertion/deletion (I/D) polymorphism [1]. The G allele of rs4343 serves as a highly accurate proxy for the deletion (D) allele, which is linked to elevated ACE expression and activity [6]. Conversely, the A allele represents the insertion (I) allele, which is associated with lower circulating and tissue levels of the enzyme [7].
Key Insight: This variant is a nearly perfect genetic mirror of the famous ACE insertion/deletion (I/D) polymorphism, allowing it to predict blood pressure and athletic tendencies without complex gel testing. While the G allele raises the risk of high blood pressure, it also provides a natural advantage in power-based sports like sprinting.
Location: ACE. Chromosome 17 · 17q23.3 · 63.5 Mb
Estimated prevalence by population
Global 20.8%; European 28.2%; African 6.2%; East Asian 11.9%; South Asian 16.4%; Americas 18.3%; Ashkenazi 38.7%; Finnish 31.9%; Middle Eastern 35.3%; Amish 35.0%.
Estimated GG genotype frequency.
Global 45.9%; European 49.8%; African 37.3%; East Asian 45.2%; South Asian 48.2%; Americas 49.0%; Ashkenazi 47.0%; Finnish 49.2%; Middle Eastern 48.2%; Amish 48.3%.
Estimated GA genotype frequency.
Global 33.3%; European 22.0%; African 56.5%; East Asian 43.0%; South Asian 35.5%; Americas 32.7%; Ashkenazi 14.3%; Finnish 18.9%; Middle Eastern 16.5%; Amish 16.7%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Hypertension
Hypertension. Evidence: 4/10. Source: PMID 20639399. Increased Risk.
Organ Systems
Kidney Function & Disease
Diabetic Kidney Disease. Evidence: 3/10. Source: PMID 28271690. Increased Risk.
Endocrine & Reproductive
Hormone Levels & Endocrine Regulation
ACE Enzyme Activity. Evidence: 4/10. Source: PMID 20066004. Elevated Activity.
Lifestyle, Fitness & Aging
Muscle Strength & Power
Muscle Performance. Evidence: 3/10. Source: PMID 19291311. Power Advantage.
Showing effects for A/A genotype
Hypertension. Evidence: 4/10. Source: PMID 20639399. Typical Risk.
Diabetic Kidney Disease. Evidence: 3/10. Source: PMID 28271690. Typical Risk.
ACE Enzyme Activity. Evidence: 4/10. Source: PMID 20066004. Lower Activity.
Muscle Performance. Evidence: 3/10. Source: PMID 19291311. Endurance Advantage.
Showing effects for G/A genotype
Hypertension. Evidence: 4/10. Source: PMID 20639399. Slightly Increased.
Diabetic Kidney Disease. Evidence: 3/10. Source: PMID 28271690. Slightly Increased.
ACE Enzyme Activity. Evidence: 4/10. Source: PMID 20066004. Intermediate Activity.
Muscle Performance. Evidence: 3/10. Source: PMID 19291311. Balanced Profile.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Carrying two copies of the G allele means having a genetic profile that closely mirrors the ACE deletion/deletion (D/D) genotype [1]. This genetic setup is strongly linked to significantly higher levels of circulating and tissue angiotensin-converting enzyme [2]. Elevated ACE activity leads to increased production of angiotensin II, a potent hormone that constricts blood vessels and raises blood pressure [3]. Consequently, this genotype is associated with a higher risk of essential hypertension and cardiovascular strain [4]. Furthermore, studies have linked this profile to an increased susceptibility to diabetic nephropathy, a form of kidney disease [5]. On the athletic side, however, higher ACE activity is often associated with a natural predisposition for power- and strength-based physical activities [6].
Elevated ACE enzyme activity; Increased risk of high blood pressure; Higher risk of diabetic kidney complications; Predisposition for strength and power sports.
Sample genotype: AA (Homozygous)
Carrying two copies of the A allele corresponds to the insertion/insertion (I/I) genotype of the ACE gene [1]. This genetic profile is associated with lower circulating and tissue levels of the angiotensin-converting enzyme [2]. With less ACE available to produce the blood-vessel-constricting hormone angiotensin II, blood vessels tend to remain more relaxed, supporting healthy blood pressure [3]. Clinical studies show that this genotype is associated with a typical baseline risk of hypertension and cardiovascular disease [4]. Additionally, the A/A genotype is highly protective against the development of diabetic nephropathy, showing a significantly lower risk of kidney damage in diabetic individuals [5]. From an athletic perspective, lower ACE activity is consistently linked to enhanced endurance performance, making it common among long-distance runners and cyclists [6].
Lower ACE enzyme activity; Typical blood pressure profile; Lower risk of diabetic kidney complications; Predisposition for endurance-based sports.
Sample genotype: GA (Heterozygous)
Carrying one copy of each allele corresponds to the intermediate insertion/deletion (I/D) genotype of the ACE gene [1]. This heterozygous profile results in moderate levels of angiotensin-converting enzyme activity [2]. While the risk of developing hypertension is lower than that of the G/G genotype, it remains slightly elevated compared to the A/A baseline [3]. Similarly, the risk of diabetic kidney complications is intermediate, requiring standard vigilance in blood sugar and blood pressure management [4]. In terms of physical fitness, this genotype often provides a balanced athletic profile, showing no strong bias toward either pure endurance or pure power [5]. Overall, this common genetic combination represents a middle-ground physiological response within the renin-angiotensin system [6].
Intermediate ACE enzyme activity; Slightly increased risk of high blood pressure; Moderate risk of diabetic kidney complications; Balanced athletic profile.
Variants with shared genetic architecture
rs4291 · ACE Gene · Chr 17 · Blood Pressure and Brain
rs4311 · ACE Gene · Chr 17 · Diabetic Kidney Risk
rs1799752 · ACE Gene · Chr 17 · Blood Pressure and Fitness
ACE I/D genotype, adiposity, and blood pressure in children.
An alternative method for genotyping of the ACE I/D polymorphism.
Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.
Content updated August 2026.
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