What you carry at this position in your DNA and what research says about it.
Blood Pressure Risk: 10/10 evidence, 14 publications.
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Sample genotype (not yours): T/T
Higher Blood Pressure and Hypertension Risk
Elevated systolic blood pressure and a higher risk of developing hypertension are associated with this genetic profile. It also increases the likelihood of fibromuscular dysplasia, while simultaneously lowering the risk of coronary artery disease.
What this genotype means: Elevated systolic blood pressure; Increased risk of hypertension; Higher risk of fibromuscular dysplasia.
Sample genotype (not yours): C/C
Lower Blood Pressure but Higher Coronary Risk
Lower blood pressure and a reduced risk of hypertension are characteristic of this genetic profile. However, it is also linked to an increased susceptibility to coronary artery disease and myocardial infarction.
What this genotype means: Lower systolic blood pressure; Reduced risk of hypertension; Increased risk of coronary artery disease.
Sample genotype (not yours): T/C
Typical Blood Pressure and Cardiovascular Risk
A combination of one T and one C allele results in typical blood pressure levels and an intermediate risk for cardiovascular conditions. This profile represents a balance between the blood pressure-raising effects of the T allele and the coronary risks of the C allele.
What this genotype means: Typical blood pressure levels; Average risk of hypertension; Intermediate risk of coronary artery disease.
Gene function and biological role
Gene Function: The ATP2B1 gene encodes plasma membrane calcium-transporting ATPase 1 (PMCA1), a critical enzyme responsible for pumping calcium ions out of cells [1]. In vascular smooth muscle cells, PMCA1 plays a vital role in maintaining intracellular calcium homeostasis, which directly regulates blood vessel contraction and relaxation [1]. Proper calcium clearance by this pump allows blood vessels to dilate, thereby maintaining healthy blood pressure levels [2]. When ATP2B1 expression or function is altered, calcium can accumulate inside vascular cells, leading to increased arterial tone and systemic resistance [1]. Consequently, genetic variations in this gene are among the most robustly replicated signals associated with blood pressure regulation and hypertension risk across diverse global populations [3].
Variant Impact: The rs2681492 variant is an intronic single nucleotide polymorphism located within the ATP2B1 gene on chromosome 12. Although it does not directly alter the amino acid sequence of the PMCA1 protein, it is strongly associated with changes in gene expression levels in arterial tissues [4]. The major T allele is linked to reduced ATP2B1 expression, which impairs calcium clearance in vascular smooth muscle cells and increases arterial stiffness [1]. This molecular change manifests clinically as elevated systolic and diastolic blood pressure, as well as an increased susceptibility to hypertension [3]. Conversely, the minor C allele is associated with lower blood pressure but shows a complex, paradoxical association with an increased risk of coronary artery disease and myocardial infarction [5].
Key Insight: This variant presents a striking cardiovascular trade-off, where the genotype that protects against high blood pressure actually increases the risk of coronary artery disease.
Location: ATP2B1. Chromosome 12 · 12q21.33 · 89.6 Mb
Estimated prevalence by population
Global 71.6%; European 70.0%; African 77.1%; East Asian 44.9%; South Asian 41.9%; Americas 76.4%; Ashkenazi 57.7%; Finnish 85.2%; Middle Eastern 55.5%; Amish 87.5%.
Estimated TT genotype frequency.
Global 25.6%; European 27.4%; African 21.4%; East Asian 44.2%; South Asian 45.7%; Americas 22.0%; Ashkenazi 36.5%; Finnish 14.2%; Middle Eastern 38.0%; Amish 12.1%.
Estimated TC genotype frequency.
Global 2.8%; European 2.7%; African 1.5%; East Asian 10.9%; South Asian 12.4%; Americas 1.6%; Ashkenazi 5.8%; Finnish 0.6%; Middle Eastern 6.5%; Amish 0.4%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Hypertension
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 19430479. +1.7 mmHg.
Hypertension. Evidence: 8/10. Source: PMID 30487518. ~1.3x Risk.
Vascular Health & Aneurysm
Fibromuscular Dysplasia. Evidence: 4/10. Source: PMID 34654805. ~1.43x Risk.
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 29212778. Reduced Risk.
Showing effects for C/C genotype
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 19430479. Typical.
Hypertension. Evidence: 8/10. Source: PMID 30487518. Typical Risk.
Fibromuscular Dysplasia. Evidence: 4/10. Source: PMID 34654805. Reduced Risk.
Coronary Artery Disease. Evidence: 6/10. Source: PMID 29212778. Increased Risk.
Showing effects for T/C genotype
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 19430479. +0.85 mmHg.
Hypertension. Evidence: 8/10. Source: PMID 30487518. ~1.15x Risk.
Fibromuscular Dysplasia. Evidence: 4/10. Source: PMID 34654805. Typical Risk.
Coronary Artery Disease. Evidence: 6/10. Source: PMID 29212778. Slightly Increased.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Belonging to the most common genetic group globally, carriers of two T alleles experience a modest but consistent increase in both systolic and diastolic blood pressure [1]. Large-scale genome-wide association studies have repeatedly identified the T allele as a key driver of essential hypertension [2]. The underlying mechanism involves reduced expression of the ATP2B1 gene, which impairs calcium removal from vascular smooth muscle cells, leading to sustained blood vessel constriction [3]. In addition to hypertension, this genotype is linked to a 1.43-fold increased risk of fibromuscular dysplasia, an arterial disease that primarily affects women [3]. Interestingly, despite these adverse vascular effects, individuals with the T/T genotype exhibit a lower susceptibility to coronary artery disease and myocardial infarction compared to C allele carriers [4]. Managing blood pressure through standard lifestyle modifications and monitoring remains a key health strategy for this group.
Elevated systolic blood pressure; Increased risk of hypertension; Higher risk of fibromuscular dysplasia; Lower risk of coronary artery disease.
Sample genotype: CC (Homozygous)
Representing a relatively rare genetic profile, the C/C genotype presents a fascinating cardiovascular trade-off. Individuals with the C/C genotype benefit from significantly lower systolic and diastolic blood pressure, as well as a reduced risk of developing hypertension [1]. This protective effect is driven by optimal ATP2B1 expression, which facilitates efficient calcium clearance from vascular smooth muscle cells and promotes blood vessel relaxation [2]. Additionally, this genotype carries a lower risk of fibromuscular dysplasia [2]. However, large-scale genetic analyses have revealed that the C allele is associated with an increased risk of coronary artery disease and myocardial infarction [3]. The precise biological mechanism behind this paradoxical increase in coronary risk despite lower blood pressure remains an active area of scientific research.
Lower systolic blood pressure; Reduced risk of hypertension; Increased risk of coronary artery disease; Higher risk of myocardial infarction.
Sample genotype: TC (Heterozygous)
A balanced genetic profile of one T allele and one C allele results in intermediate vascular phenotypes. Blood pressure measurements and hypertension risks in this group are generally close to the population average [1]. The single T allele slightly reduces ATP2B1 expression compared to the protective C/C genotype, but the presence of one C allele helps mitigate the full extent of arterial calcium accumulation [2]. This balance also extends to other arterial conditions, with a typical risk profile for fibromuscular dysplasia [2]. On the other hand, the presence of one C allele introduces a slight increase in susceptibility to coronary artery disease and myocardial infarction compared to the T/T genotype [3]. Overall, this genotype represents a common, baseline genetic profile that does not significantly skew cardiovascular risk in either direction.
Typical blood pressure levels; Average risk of hypertension; Intermediate risk of coronary artery disease.
Variants with shared genetic architecture
rs17249754 · ATP2B1 Gene · Chr 12 · Blood Pressure
rs2681472 · ATP2B1 Gene · Chr 12 · Blood Pressure and Heart
rs2327429 · TARID Gene · Chr 6 · Heart Disease Risk
Genome-wide association study of blood pressure and hypertension.
Interethnic analyses of blood pressure loci in populations of East Asian and European descent.
Content updated August 2026.
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