What you carry at this position in your DNA and what research says about it.
Blood Pressure Regulation: 7/10 evidence, 25 publications.
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Sample genotype (not yours): G/G
Typical Blood Pressure and Cardiovascular Risk
The homozygous G/G genotype is associated with typical blood pressure and baseline cardiovascular risk. It represents the standard genetic profile for endothelin-1 levels.
What this genotype means: Typical blood pressure regulation; Standard endothelin-1 peptide levels.
Sample genotype (not yours): G/T
Slightly Elevated Blood Pressure Risk
The heterozygous G/T genotype is linked to slightly higher blood pressure and vasoactive peptide levels. This effect may be more pronounced in individuals with lower physical fitness.
What this genotype means: Slightly higher baseline systolic blood pressure; Potentially improved response to certain blood pressure medications.
Sample genotype (not yours): T/T
Higher Blood Pressure and Cardiovascular Risk
The homozygous T/T genotype is associated with higher blood pressure and elevated vasoactive peptide levels. Regular physical activity may help mitigate this genetic predisposition.
What this genotype means: Higher baseline blood pressure; Increased sensitivity of blood pressure to physical fitness levels.
Gene function and biological role
Gene Function: The EDN1 gene encodes endothelin-1, a highly potent peptide that constricts blood vessels and plays a central role in vascular tone regulation [1]. Produced primarily by endothelial cells, endothelin-1 acts as a key regulator of blood pressure and cardiovascular homeostasis [2]. Abnormal levels of this peptide are frequently implicated in the development of hypertension, vascular dysfunction, and heart disease [3]. Beyond blood vessels, endothelin-1 is also involved in inflammatory pathways and tissue remodeling across various organ systems [4].
Variant Impact: The rs5370 variant is a missense mutation in the EDN1 gene that alters the encoded amino acid from lysine to asparagine at position 198 [1]. This structural change is thought to influence the processing and maturation of the precursor preproendothelin-1 peptide [5]. The altered protein structure can lead to higher circulating levels of vasoactive peptides in the bloodstream [6]. Consequently, this genetic variation is widely studied for its impact on blood pressure regulation and overall cardiovascular health [7].
Key Insight: The impact of this variant on blood pressure is highly dependent on physical fitness, meaning regular exercise can help offset the genetic risk.
Location: EDN1. Chromosome 6 · 6p24.1 · 12.3 Mb
Estimated prevalence by population
Global 62.2%; European 61.2%; African 65.0%; East Asian 50.4%; South Asian 36.1%; Americas 68.3%; Ashkenazi 62.3%; Finnish 66.2%; Middle Eastern 66.1%; Amish 61.8%.
Estimated GG genotype frequency.
Global 33.1%; European 34.1%; African 31.2%; East Asian 41.2%; South Asian 48.0%; Americas 28.7%; Ashkenazi 33.3%; Finnish 30.3%; Middle Eastern 30.4%; Amish 33.6%.
Estimated GT genotype frequency.
Global 4.7%; European 4.7%; African 3.7%; East Asian 8.4%; South Asian 16.0%; Americas 3.0%; Ashkenazi 4.4%; Finnish 3.5%; Middle Eastern 3.5%; Amish 4.6%.
Estimated TT genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 7/10. Source: PMID 33230300. Typical.
Lipids & Cholesterol
HDL Cholesterol. Evidence: 4/10. Source: PMID 17357073. Typical Levels.
Endocrine & Reproductive
Hormone Levels & Endocrine Regulation
Vasoactive Peptides. Evidence: 8/10. Source: PMID 23381795. Typical Levels.
Pharmacogenomics
Cardiovascular Drug Response
Blood Pressure Drug Response. Evidence: 5/10. Source: PMID 15188945. Typical Response.
Showing effects for G/T genotype
Blood Pressure. Evidence: 7/10. Source: PMID 33230300. Slightly Higher.
HDL Cholesterol. Evidence: 4/10. Source: PMID 17357073. Lower in Women.
Vasoactive Peptides. Evidence: 8/10. Source: PMID 23381795. Slightly Elevated.
Blood Pressure Drug Response. Evidence: 5/10. Source: PMID 15188945. Stronger Response.
Showing effects for T/T genotype
Blood Pressure. Evidence: 7/10. Source: PMID 33230300. Higher Risk.
Vasoactive Peptides. Evidence: 8/10. Source: PMID 23381795. Elevated Levels.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
The presence of two copies of the common G allele represents the baseline genetic profile for endothelin-1 production. This genotype is associated with typical circulating levels of vasoactive peptides and standard blood pressure regulation [1]. Research indicates that individuals with this profile do not have the genetically elevated risk of hypertension associated with the variant T allele [2]. In clinical studies of blood pressure medications like atenolol or irbesartan, this genotype shows a standard, typical response [3]. Furthermore, women with this genotype generally maintain typical high-density lipoprotein (HDL) cholesterol levels [4]. Overall, this genetic makeup represents the most common profile globally, serving as the standard reference point for cardiovascular risk assessments [5].
Typical blood pressure regulation; Standard endothelin-1 peptide levels.
Sample genotype: GT (Heterozygous)
A single copy of the T allele is associated with a slight increase in circulating vasoactive peptide levels [1]. This elevation can lead to a modest increase in both systolic and pulse pressure [2]. Interestingly, the impact of this genetic variant on blood pressure appears to be highly dependent on physical fitness, with the risk of hypertension being more pronounced in sedentary individuals [3]. Some studies also suggest a potential link to lower HDL cholesterol levels, particularly in women, though this finding has not been consistently replicated in all populations. In terms of medication response, clinical trials have observed that individuals with this heterozygous profile may experience a better blood pressure-lowering response to certain medications like atenolol or irbesartan [4]. This suggests that while the variant slightly raises baseline pressure, it may also render the cardiovascular system more responsive to specific therapeutic interventions.
Slightly higher baseline systolic blood pressure; Potentially improved response to certain blood pressure medications.
Sample genotype: TT (Homozygous)
The homozygous T/T genotype is linked to the highest circulating levels of vasoactive peptides, which can significantly impact blood vessel constriction [1]. This genotype is associated with elevated systolic and pulse pressure, raising the baseline risk for developing hypertension [2]. Clinical studies have shown that the risk of high blood pressure is particularly elevated in individuals with lower physical fitness, whereas regular exercise can help mitigate this genetic predisposition [3]. In some female cohorts, this genotype has been associated with lower levels of protective HDL cholesterol [4]. Additionally, pharmacogenomic research suggests that this profile may influence survival outcomes during specific cancer treatments, such as those involving bevacizumab [5]. Maintaining a healthy lifestyle with regular cardiovascular exercise is a highly effective way to support vascular health with this genetic profile.
Higher baseline blood pressure; Increased sensitivity of blood pressure to physical fitness levels.
Variants with shared genetic architecture
rs11556924 · ZC3HC1 Gene · Chr 7 · Heart Disease Risk
rs604723 · ARHGAP42 Gene · Chr 11 · Blood Pressure Risk
rs1275988 · KCNK3 Gene · Chr 2 · Hypertension and Heart Risk
Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations.
Endothelin-1 genetic polymorphism as predictive marker for bevacizumab in metastatic breast cancer.
Content updated August 2026.
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