What you carry at this position in your DNA and what research says about it.
Blood Pressure: 10/10 evidence, 20 publications.
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Sample genotype (not yours): G/G
Higher Blood Pressure and Hypertension Risk
Elevated systolic and diastolic blood pressure measurements are common with this genotype. It is linked to an increased risk of developing essential hypertension.
What this genotype means: Higher systolic and diastolic blood pressure; Elevated risk of essential hypertension; Increased arterial stiffness.
Sample genotype (not yours): A/A
Lower Blood Pressure and Reduced Hypertension Risk
Lower average blood pressure and a reduced risk of hypertension are associated with this genotype. It provides natural protection against developing high blood pressure.
What this genotype means: Lower average blood pressure; Reduced risk of essential hypertension; Improved blood vessel flexibility.
Sample genotype (not yours): G/A
Typical Blood Pressure and Hypertension Risk
Average blood pressure levels and a standard risk of hypertension are typical with this intermediate genotype. It represents the baseline for most populations.
What this genotype means: Typical blood pressure levels; Standard risk of hypertension; Average arterial stiffness.
Gene function and biological role
Gene Function: The ATP2B1 gene encodes the plasma membrane calcium ATPase isoform 1, a critical protein responsible for removing calcium ions from the intracellular space to the extracellular environment [1]. In vascular smooth muscle cells, maintaining low intracellular calcium levels is essential for preventing excessive muscle contraction and maintaining normal blood vessel tone [2]. When calcium levels rise, blood vessels constrict, which directly increases systemic vascular resistance and elevates blood pressure [1] [2]. Consequently, genetic variations that alter the expression or function of ATP2B1 are strongly linked to blood pressure regulation and the risk of developing essential hypertension [1] [3].
Variant Impact: The rs17249754 variant is located in the 5 prime untranslated region of the ATP2B1 gene, a regulatory region that influences how efficiently the gene is translated into the calcium-pump protein. This specific genetic change is one of the most robustly replicated signals in genome-wide association studies for blood pressure and hypertension, particularly in East Asian populations [4] [2]. The G allele of this variant is associated with reduced expression of the ATP2B1 gene, which impairs calcium clearance from vascular smooth muscle cells and leads to increased arterial stiffness [2] [5]. Over time, this cellular calcium accumulation translates to higher systolic and diastolic blood pressure measurements [4] [6].
Key Insight: Calcium clearance from blood vessel walls is a primary genetic driver of blood pressure, and this variant directly influences how well your body pumps calcium out of vascular cells.
Location: ATP2B1. Chromosome 12 · 12q21.33 · 89.7 Mb
Estimated prevalence by population
Global 71.6%; European 70.0%; African 76.9%; East Asian 45.1%; South Asian 41.3%; Americas 76.4%; Ashkenazi 58.1%; Finnish 85.1%; Middle Eastern 56.0%; Amish 87.5%.
Estimated GG genotype frequency.
Global 25.7%; European 27.4%; African 21.6%; East Asian 44.1%; South Asian 45.9%; Americas 22.0%; Ashkenazi 36.2%; Finnish 14.3%; Middle Eastern 37.7%; Amish 12.1%.
Estimated GA genotype frequency.
Global 2.8%; European 2.7%; African 1.5%; East Asian 10.8%; South Asian 12.8%; Americas 1.6%; Ashkenazi 5.6%; Finnish 0.6%; Middle Eastern 6.3%; Amish 0.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Hypertension
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 19396169. +1.11 mmHg.
Diastolic Blood Pressure. Evidence: 10/10. Source: PMID 19396169. +0.56 mmHg.
Hypertension. Evidence: 8/10. Source: PMID 25249183. ~1.15x Risk.
Pulse Pressure. Evidence: 9/10. Source: PMID 21909110. Increased PP.
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 39024449. Typical Risk.
Showing effects for A/A genotype
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 19396169. -1.11 mmHg.
Diastolic Blood Pressure. Evidence: 10/10. Source: PMID 19396169. -0.56 mmHg.
Hypertension. Evidence: 8/10. Source: PMID 25249183. Reduced Risk.
Pulse Pressure. Evidence: 9/10. Source: PMID 21909110. Lower PP.
Coronary Artery Disease. Evidence: 6/10. Source: PMID 39024449. Slightly Higher Risk.
Showing effects for G/A genotype
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 19396169. Typical SBP.
Diastolic Blood Pressure. Evidence: 10/10. Source: PMID 19396169. Typical DBP.
Hypertension. Evidence: 8/10. Source: PMID 25249183. Typical Risk.
Pulse Pressure. Evidence: 9/10. Source: PMID 21909110. Typical PP.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Measurements of systolic and diastolic blood pressure tend to be highest at this locus when two copies of the G allele are present [1]. Research indicates that the G allele reduces the expression of the ATP2B1 calcium pump, leading to calcium accumulation in the smooth muscle cells of blood vessels [2]. This cellular change causes blood vessels to constrict more easily, increasing arterial stiffness and elevating systemic blood pressure [2] [3]. Large-scale genomic studies have consistently linked this genotype to a significantly higher risk of essential hypertension, particularly in East Asian populations [1] [4]. Interestingly, the impact of this genotype on blood pressure may be further amplified by high dietary sodium intake [5]. Engaging in regular physical activity has been shown to help mitigate some of the genetic risk associated with this variant [6].
Higher systolic and diastolic blood pressure; Elevated risk of essential hypertension; Increased arterial stiffness.
Sample genotype: AA (Homozygous)
Inheriting two copies of the protective A allele is associated with the lowest average systolic and diastolic blood pressure measurements at this locus [1]. This genotype promotes optimal expression of the ATP2B1 calcium pump, which efficiently removes calcium from vascular smooth muscle cells [2]. Consequently, blood vessels remain more relaxed and flexible, reducing overall arterial stiffness and systemic vascular resistance [2] [3]. Multiple large-scale genetic studies have confirmed that this genotype is highly protective against the development of essential hypertension [1] [4]. While this genotype is beneficial for blood pressure, some preliminary research suggests a potential, minor increase in susceptibility to coronary artery calcification, though the blood pressure benefits remain the dominant health factor [5]. Adopting a healthy lifestyle further enhances the natural cardiovascular advantages of this genotype [6].
Lower average blood pressure; Reduced risk of essential hypertension; Improved blood vessel flexibility.
Sample genotype: GA (Heterozygous)
Presence of one G allele and one A allele generally results in intermediate blood pressure levels that fall between the higher-risk G/G genotype and the protective A/A genotype [1]. Because this genotype contains both the risk-associated G allele and the protective A allele, the overall impact on cardiovascular health is typically neutral [2]. Studies show that individuals with this genotype have average arterial stiffness and standard calcium pump activity in their vascular smooth muscle cells [3]. While there is a slight increase in blood pressure compared to those with two protective alleles, it is generally not enough to significantly elevate hypertension risk on its own [1] [4]. Maintaining a balanced diet low in sodium and staying physically active are effective ways to support optimal cardiovascular health with this genotype [5] [6].
Typical blood pressure levels; Standard risk of hypertension; Average arterial stiffness.
Variants with shared genetic architecture
rs2681492 · ATP2B1 Gene · Chr 12 · Blood Pressure Risk
rs2681472 · ATP2B1 Gene · Chr 12 · Blood Pressure and Heart
rs1173771 · NPR3 Gene · Chr 5 · Blood Pressure Risk
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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