What you carry at this position in your DNA and what research says about it.
Cardiovascular Disease Risk: 10/10 evidence, 44 publications.
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Sample genotype (not yours): G/G
Typical Cardiovascular Risk
Two copies of the common G allele are associated with baseline levels of arterial calcification and typical cardiovascular health. This genotype avoids the genetic overproduction of the plaque-promoting HDAC9 enzyme.
What this genotype means: Typical arterial wall elasticity; Baseline risk for coronary artery disease; Typical susceptibility to large artery stroke.
Sample genotype (not yours): A/A
Elevated Cardiovascular and Stroke Risk
Carrying two copies of the A allele is associated with a more pronounced risk of arterial calcification, heart disease, and stroke. This genotype significantly increases the expression of the inflammatory HDAC9 gene.
What this genotype means: Elevated risk of coronary artery disease and heart attack; Increased risk of large artery stroke; Higher likelihood of arterial stiffness and calcification.
Sample genotype (not yours): G/A
Moderately Elevated Cardiovascular Risk
Carrying one copy of the A allele is linked to moderately increased arterial plaque buildup and higher blood pressure. This genetic variation slightly boosts the activity of the inflammatory HDAC9 gene.
What this genotype means: Moderately increased risk of coronary artery disease; Slightly elevated systolic blood pressure; Increased tendency for arterial calcification.
Gene function and biological role
Gene Function: The HDAC9 gene encodes histone deacetylase 9, an enzyme that regulates gene expression by removing acetyl groups from histones. This epigenetic modification plays a critical role in controlling cell growth, differentiation, and inflammatory responses. In the cardiovascular system, this enzyme is heavily expressed in vascular smooth muscle cells and endothelial cells that line the blood vessels. Elevated levels of this enzyme are strongly linked to the development and progression of atherosclerosis, which is the buildup of fatty plaques in the arteries. By modulating inflammatory pathways and cellular behavior, the gene serves as a key driver of systemic vascular disease.
Variant Impact: The rs2107595 variant is located in a regulatory region just outside the protein-coding sequence of the HDAC9 gene. This genetic change acts as an enhancer that directly alters how actively the gene is transcribed into protein. Carrying the risk allele increases the binding of specific transcription factors, which significantly boosts the production of the HDAC9 enzyme. This overproduction promotes inflammation, accelerates plaque calcification, and destabilizes arterial walls. Consequently, this single nucleotide change is recognized as one of the most significant genetic risk factors for large-vessel vascular diseases.
Key Insight: The risk allele acts like an epigenetic volume booster, driving up the production of an enzyme that actively calcifies and hardens human arteries. This single genetic marker simultaneously influences the health of heart, brain, and peripheral blood vessels by driving a shared pathway of plaque buildup.
Location: HDAC9. Chromosome 7 · 7p21.1 · 19.0 Mb
Estimated prevalence by population
Global 65.4%; European 70.7%; African 62.7%; East Asian 43.9%; South Asian 47.9%; Americas 64.1%; Ashkenazi 58.7%; Finnish 63.3%; Middle Eastern 62.3%; Amish 76.4%.
Estimated GG genotype frequency.
Global 30.7%; European 26.8%; African 33.0%; East Asian 44.7%; South Asian 42.6%; Americas 31.9%; Ashkenazi 35.9%; Finnish 32.5%; Middle Eastern 33.3%; Amish 22.0%.
Estimated GA genotype frequency.
Global 3.9%; European 2.5%; African 4.3%; East Asian 11.4%; South Asian 9.5%; Americas 4.0%; Ashkenazi 5.5%; Finnish 4.2%; Middle Eastern 4.4%; Amish 1.6%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 24262325. Typical Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. Typical Risk.
Stroke
Stroke. Evidence: 8/10. Source: PMID 23041239. Typical Risk.
Hypertension
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 27841878. Typical Pressure.
Vascular Health & Aneurysm
Arterial Calcification. Evidence: 6/10. Source: PMID 31659325. Typical Calcification.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 31285632. Typical Risk.
Showing effects for A/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 24262325. ~1.14x Higher Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.12x Higher Risk.
Stroke. Evidence: 8/10. Source: PMID 23041239. ~1.25x Higher Risk.
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 27841878. +0.84 mmHg Higher.
Arterial Calcification. Evidence: 6/10. Source: PMID 31659325. Highly Increased.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 31285632. Highly Increased.
Showing effects for G/A genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 24262325. ~1.07x Higher Risk.
Heart Attack. Evidence: 8/10. Source: PMID 33532862. ~1.06x Higher Risk.
Stroke. Evidence: 8/10. Source: PMID 23041239. ~1.12x Higher Risk.
Systolic Blood Pressure. Evidence: 10/10. Source: PMID 27841878. +0.42 mmHg Higher.
Arterial Calcification. Evidence: 6/10. Source: PMID 31659325. Increased Risk.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 31285632. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Maintaining two copies of the protective G allele keeps the expression of the HDAC9 gene at a normal, baseline level. Because this enzyme is not overproduced, vascular smooth muscle cells are less prone to transforming into plaque-forming cells. Large-scale clinical studies show that this typical expression profile correlates with a lower risk of coronary artery disease compared to risk-allele carriers. Blood vessels are also less likely to accumulate calcium deposits, helping preserve arterial elasticity over time. Furthermore, this genotype is associated with a lower baseline risk for large artery ischemic strokes. Systolic blood pressure and pulse pressure measurements tend to remain within typical ranges. While lifestyle factors like diet and exercise still play a major role, this genetic profile provides a supportive baseline for long-term heart and brain health.
Typical arterial wall elasticity; Baseline risk for coronary artery disease; Typical susceptibility to large artery stroke.
Sample genotype: AA (Homozygous)
Inheriting two copies of the A risk allele maximizes the transcriptional activity of the HDAC9 gene, leading to high levels of enzyme expression. This elevated enzyme level drives significant inflammation and cellular remodeling within the arterial walls. Large-scale genome-wide association studies consistently link this genotype to a higher risk of coronary artery disease. The risk of suffering an ischemic stroke, particularly of the large-artery subtype, is also notably elevated. Furthermore, individuals with this profile show higher rates of abdominal aortic calcification, which contributes to arterial stiffness. Systolic blood pressure and pulse pressure measurements are typically higher compared to those with the G/G genotype. Because this genetic profile strongly influences systemic vascular health, maintaining a heart-healthy lifestyle and monitoring cardiovascular biomarkers is highly recommended.
Elevated risk of coronary artery disease and heart attack; Increased risk of large artery stroke; Higher likelihood of arterial stiffness and calcification.
Sample genotype: GA (Heterozygous)
Possessing a single copy of the A risk allele alters the regulatory landscape of the HDAC9 gene, leading to moderate overproduction of its enzyme. This increase in enzyme activity promotes inflammatory signaling within the walls of major blood vessels. Over time, this process accelerates the development of atherosclerosis and increases the risk of coronary artery disease. Clinical data show a moderate increase in the risk of experiencing a large artery stroke. Additionally, this genotype is associated with a slight elevation in systolic blood pressure and pulse pressure. Calcium accumulation in the abdominal aorta is also more common, which can gradually stiffen the arteries. Managing conventional cardiovascular risk factors, such as cholesterol and blood pressure, is particularly beneficial for individuals with this genetic profile.
Moderately increased risk of coronary artery disease; Slightly elevated systolic blood pressure; Increased tendency for arterial calcification.
Variants with shared genetic architecture
rs2023938 · HDAC9 Gene · Chr 7 · Stroke Risk
rs1412444 · LIPA Gene · Chr 10 · Coronary Artery Disease
rs974819 · PDGFD Gene · Chr 11 · Heart Disease Risk
Content updated August 2026.
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