What you carry at this position in your DNA and what research says about it.
Blood Pressure: 10/10 evidence, 39 publications.
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Sample genotype (not yours): T/T
Typical Blood Pressure and Lower Heart Risk
Carrying two copies of the common T allele is associated with lower blood pressure and a reduced risk of heart conditions. This genotype represents the baseline cardiovascular profile for most of the population.
What this genotype means: Lower risk of high blood pressure; Reduced risk of coronary artery disease; Typical cardiac conduction intervals.
Sample genotype (not yours): C/C
Higher Blood Pressure and Elevated Heart Risk
Carrying two copies of the C allele is associated with elevated blood pressure and a higher risk of developing cardiovascular conditions.
What this genotype means: Elevated blood pressure; Higher risk of coronary artery disease; Increased risk of atrial fibrillation.
Sample genotype (not yours): T/C
Slightly Higher Blood Pressure and Heart Risk
Carrying one copy of the C allele is associated with a slight increase in blood pressure and a minor elevation in cardiovascular risk.
What this genotype means: Slightly elevated blood pressure; Slightly higher risk of coronary artery disease; Minor changes in cardiac electrical conduction.
Gene function and biological role
Gene Function: The GOSR2 gene encodes a trafficking membrane protein that transports proteins among the medial- and trans-Golgi compartments. This protein is a member of the soluble NSF attachment protein receptor (SNARE) family of vesicle docking proteins. It localizes to the Golgi apparatus and mediates docking and fusion of vesicles originating from the endoplasmic reticulum. This gene plays a critical role in intracellular trafficking, and mutations in it have been linked to progressive myoclonus epilepsy and congenital muscular dystrophy.
Variant Impact: The rs17608766 variant is located in the 3' untranslated region (3' UTR) of the GOSR2 gene. This region is crucial for regulating gene expression, stability, and translation of the GOSR2 protein. The C allele of this variant is associated with increased expression or altered regulation, leading to higher blood pressure and cardiovascular risks. Multiple genome-wide association studies have linked this specific genetic change to elevated systolic blood pressure, pulse pressure, and mean arterial pressure [1] [2]. It also influences cardiac conduction intervals and increases the risk of coronary artery disease and atrial fibrillation [3] [4].
Key Insight: A single genetic letter change in a Golgi transport gene can subtly alter the physical structure of the heart and blood vessels, leading to measurable differences in blood pressure.
Location: GOSR2. Chromosome 17 · 17q21.32 · 46.9 Mb
Estimated prevalence by population
Global 83.0%; European 75.0%; African 95.5%; East Asian 99.9%; South Asian 92.3%; Americas 85.5%; Ashkenazi 90.1%; Finnish 67.0%; Middle Eastern 86.2%; Amish 67.9%.
Estimated TT genotype frequency.
Global 15.9%; European 23.2%; African 4.4%; East Asian 0.1%; South Asian 7.5%; Americas 13.9%; Ashkenazi 9.6%; Finnish 29.7%; Middle Eastern 13.3%; Amish 29.0%.
Estimated TC genotype frequency.
Global 1.1%; European 1.8%; African 0.1%; East Asian < 0.1%; South Asian 0.2%; Americas 0.6%; Ashkenazi 0.3%; Finnish 3.3%; Middle Eastern 0.5%; Amish 3.1%.
Estimated CC genotype frequency.
Showing effects for T/T genotype
Cardiovascular & Metabolic
Hypertension
Blood Pressure. Evidence: 10/10. Source: PMID 21909110. Typical.
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Typical Risk.
Heart Rhythm & Conduction
Atrial Fibrillation. Evidence: 8/10. Source: PMID 40050429. Typical Risk.
Heart Rhythm. Evidence: 8/10. Source: PMID 21076409. Typical Conduction.
Vascular Health & Aneurysm
Aortic Root Size. Evidence: 7/10. Source: PMID 28394258. Typical Size.
Showing effects for C/C genotype
Blood Pressure. Evidence: 10/10. Source: PMID 21909110. Elevated.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Higher Risk.
Atrial Fibrillation. Evidence: 8/10. Source: PMID 40050429. Higher Risk.
Heart Rhythm. Evidence: 8/10. Source: PMID 21076409. Prolonged.
Aortic Root Size. Evidence: 7/10. Source: PMID 28394258. Larger.
Showing effects for T/C genotype
Blood Pressure. Evidence: 10/10. Source: PMID 21909110. Slightly Elevated.
Coronary Artery Disease. Evidence: 8/10. Source: PMID 29212778. Slightly Higher Risk.
Atrial Fibrillation. Evidence: 8/10. Source: PMID 40050429. Slightly Higher Risk.
Heart Rhythm. Evidence: 8/10. Source: PMID 21076409. Slightly Prolonged.
Aortic Root Size. Evidence: 7/10. Source: PMID 28394258. Slightly Larger.
What this genotype means for the people who carry it
Sample genotype: TT (Homozygous)
Cardiovascular health is often optimal in those who possess the T/T genotype. Large-scale genetic studies have consistently shown that individuals with this genotype tend to have lower systolic blood pressure, pulse pressure, and mean arterial pressure compared to C allele carriers [1] [2]. This protective effect translates into a lower lifetime risk of developing hypertension [3]. Furthermore, this genotype is associated with a reduced likelihood of coronary artery disease [4] and atrial fibrillation [5]. It is also linked to normal cardiac conduction intervals, such as QRS duration and QT interval, reflecting stable electrical activity in the heart [6] [7].
Lower risk of high blood pressure; Reduced risk of coronary artery disease; Typical cardiac conduction intervals.
Sample genotype: CC (Homozygous)
Inheriting two copies of the risk-associated C allele has the strongest association with elevated blood pressure at this locus. Research indicates that this genotype is linked to higher systolic blood pressure, pulse pressure, and mean arterial pressure [1] [2]. These elevated pressures significantly increase the risk of developing hypertension and the subsequent need for antihypertensive medications [3] [4]. Furthermore, this genotype is associated with an increased risk of coronary artery disease [5] and atrial fibrillation [6]. It is also linked to prolonged cardiac conduction intervals, such as QRS duration and QT interval, which can affect heart rhythm [7] [8].
Elevated blood pressure; Higher risk of coronary artery disease; Increased risk of atrial fibrillation.
Sample genotype: TC (Heterozygous)
Possessing a single copy of the C allele is linked to a modest increase in systolic blood pressure, pulse pressure, and mean arterial pressure [1] [2]. Over time, this elevation can increase the likelihood of developing hypertension and requiring blood pressure-lowering medications [3] [4]. This genotype is also associated with a slightly higher risk of coronary artery disease [5] and atrial fibrillation [6]. Additionally, studies have noted minor changes in cardiac electrical conduction, including slightly longer QRS and QT intervals [7] [8]. The individual risk increase from this single variant is small.
Slightly elevated blood pressure; Slightly higher risk of coronary artery disease; Minor changes in cardiac electrical conduction.
Variants with shared genetic architecture
rs12509595 · FGF5 Gene · Chr 4 · Blood Pressure Risk
rs35444 · TBX3 Gene · Chr 12 · Blood Pressure Risk
rs699 · AGT Gene · Chr 1 · Blood Pressure and Heart Risk
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
Genetic predictors of lifelong medication-use patterns in cardiometabolic diseases.
Content updated September 2026.
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