What you carry at this position in your DNA and what research says about it.
Blood Pressure and Heart: 8/10 evidence, 17 publications.
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Sample genotype (not yours): A/A
Higher Risk of High Blood Pressure
This genotype is associated with higher systolic and diastolic blood pressure, leading to an increased risk of hypertension. However, it also correlates with a slightly lower risk of coronary artery disease and myocardial infarction.
What this genotype means: Higher systolic and diastolic blood pressure; Increased risk of hypertension; Lower risk of coronary artery disease.
Sample genotype (not yours): A/G
Typical Blood Pressure and Heart Risk
This heterozygous genotype represents a balanced genetic profile with typical blood pressure and average cardiovascular risk. It carries one copy of each allele, resulting in intermediate vascular traits.
What this genotype means: Typical blood pressure levels; Average risk of hypertension; Typical risk of coronary artery disease.
Sample genotype (not yours): G/G
Lower Blood Pressure but Higher Heart Risk
This genotype is associated with lower blood pressure and a reduced risk of hypertension. However, it also correlates with a higher risk of coronary artery disease and myocardial infarction.
What this genotype means: Lower systolic and diastolic blood pressure; Increased risk of coronary artery disease; Increased risk of myocardial infarction.
Gene function and biological role
Gene Function: ATP2B1 encodes plasma membrane calcium ATPase isoform 1, a critical calcium pump found throughout the body's tissues [1]. This protein plays a central role in maintaining intracellular calcium homeostasis, which is vital for vascular smooth muscle contraction [2]. By pumping calcium ions out of cells, the enzyme helps regulate the tone and reactivity of blood vessels [2]. Consequently, genetic variation in this gene is one of the most robustly replicated determinants of systemic blood pressure and hypertension risk across diverse populations [3].
Variant Impact: The rs2681472 variant is an intronic single nucleotide polymorphism located within the ATP2B1 gene. This genetic change influences the expression levels of the calcium pump, thereby altering calcium transport in vascular smooth muscle cells [2]. Lower expression of the gene is associated with increased vascular resistance and higher systemic blood pressure [2]. Interestingly, while one allele elevates blood pressure, it simultaneously correlates with a reduced risk of coronary artery disease, representing a notable genetic trade-off [4].
Key Insight: This variant presents a rare genetic paradox where the allele that increases blood pressure actually lowers the risk of coronary artery disease.
Location: ATP2B1. Chromosome 12 · 12q21.33 · 89.6 Mb
Origin Story: As human ancestors migrated out of Africa, certain blood pressure-elevating alleles may have been selected to conserve heat and prevent fluid loss in colder climates, though they now contribute to hypertension in modern environments.
Estimated prevalence by population
Global 72.7%; European 70.0%; African 80.6%; East Asian 44.9%; South Asian 41.8%; Americas 76.8%; Ashkenazi 57.7%; Finnish 85.3%; Middle Eastern 56.0%; Amish 87.5%.
Estimated AA genotype frequency.
Global 24.7%; European 27.3%; African 18.4%; East Asian 44.2%; South Asian 45.7%; Americas 21.6%; Ashkenazi 36.5%; Finnish 14.1%; Middle Eastern 37.7%; Amish 12.1%.
Estimated AG genotype frequency.
Global 2.6%; European 2.7%; African 1.0%; East Asian 10.9%; South Asian 12.5%; Americas 1.5%; Ashkenazi 5.8%; Finnish 0.6%; Middle Eastern 6.3%; Amish 0.4%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Hypertension
Hypertension. Evidence: 8/10. Source: PMID 30487518. Increased Risk.
Systolic Blood Pressure. Evidence: 8/10. Source: PMID 30487518. +0.78 mmHg.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 30487518. +0.50 mmHg.
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 26343387. Lower Risk.
Heart Attack. Evidence: 8/10. Source: PMID 26343387. Lower Risk.
Vascular Health & Aneurysm
Brain Aneurysm. Evidence: 6/10. Source: PMID 33199917. Increased Risk.
Showing effects for A/G genotype
Hypertension. Evidence: 8/10. Source: PMID 30487518. Typical.
Systolic Blood Pressure. Evidence: 8/10. Source: PMID 30487518. Typical.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 30487518. Typical.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 26343387. Typical.
Heart Attack. Evidence: 8/10. Source: PMID 26343387. Typical.
Brain Aneurysm. Evidence: 6/10. Source: PMID 33199917. Typical.
Showing effects for G/G genotype
Hypertension. Evidence: 8/10. Source: PMID 30487518. Lower Risk.
Systolic Blood Pressure. Evidence: 8/10. Source: PMID 30487518. Lower SBP.
Diastolic Blood Pressure. Evidence: 8/10. Source: PMID 30487518. Lower DBP.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 26343387. Increased Risk.
Heart Attack. Evidence: 8/10. Source: PMID 26343387. Increased Risk.
Brain Aneurysm. Evidence: 6/10. Source: PMID 33199917. Lower Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Individuals with this genotype carry two copies of the A allele, which is the major allele globally. This genotype is associated with an average increase of about 0.78 mmHg in systolic blood pressure and 0.5 mmHg in diastolic blood pressure [1]. Over time, this chronic elevation in blood pressure increases the susceptibility to essential hypertension and related vascular complications like brain aneurysms [1] [2]. Surprisingly, despite the higher blood pressure, this genotype is associated with a lower risk of coronary artery disease and myocardial infarction [3]. This suggests that ATP2B1 may influence heart health through non-blood-pressure-mediated pathways, such as altering calcium signaling in cardiac tissues [3].
Higher systolic and diastolic blood pressure; Increased risk of hypertension; Lower risk of coronary artery disease.
Sample genotype: AG (Heterozygous)
Carrying one copy of each allele typically results in intermediate blood pressure levels and average cardiovascular risks. This genotype does not significantly elevate the risk of either hypertension or coronary artery disease compared to the general population [1] [2]. The balance between the blood pressure-raising A allele and the heart-protective G allele results in a neutral overall cardiovascular profile [1] [3]. Most individuals with this genotype maintain typical arterial tone and vascular reactivity under normal lifestyle conditions [1]. It represents the baseline genetic contribution to cardiovascular health at this locus.
Typical blood pressure levels; Average risk of hypertension; Typical risk of coronary artery disease.
Sample genotype: GG (Homozygous)
Individuals with this genotype carry two copies of the minor G allele, which is associated with lower systemic blood pressure [1]. This genotype provides a protective effect against hypertension and related conditions like brain aneurysms [1] [2]. However, this benefit is accompanied by a significant genetic trade-off, as the G allele is associated with a higher risk of coronary artery disease and myocardial infarction [3]. Researchers hypothesize that this paradox may be due to ATP2B1's role in calcium regulation within the vascular wall, which can affect plaque stability independently of blood pressure [3].
Lower systolic and diastolic blood pressure; Increased risk of coronary artery disease; Increased risk of myocardial infarction.
Variants with shared genetic architecture
rs17249754 · ATP2B1 Gene · Chr 12 · Blood Pressure
rs2681492 · ATP2B1 Gene · Chr 12 · Blood Pressure Risk
rs2327429 · TARID Gene · Chr 6 · Heart Disease Risk
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.
Content updated August 2026.
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