What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 6/10 evidence, 52 publications.
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Sample genotype (not yours): A/A
Lower Risk of Heart Disease and Aneurysms
Protection against cardiovascular issues is significantly higher for those with this genetic profile. This genotype helps maintain typical arterial function and inflammatory responses.
What this genotype means: Reduced risk of coronary artery disease; Lower likelihood of brain and aortic aneurysms; Typical arterial elasticity and inflammatory response.
Sample genotype (not yours): A/G
Moderately Increased Risk of Heart Attack
An elevated risk of coronary artery disease and heart attacks is associated with this genetic profile. Arterial function and inflammatory responses may be slightly altered.
What this genotype means: Moderately increased risk of coronary artery disease; Slightly higher risk of early-onset heart attack; Potential for mild increase in arterial stiffness.
Sample genotype (not yours): G/G
Significantly Higher Risk of Heart Attack and Aneurysms
A substantially higher risk of heart attacks and arterial aneurysms is linked to this genetic profile. This genotype is associated with increased arterial stiffness and altered vascular inflammation.
What this genotype means: Significantly increased risk of coronary artery disease; Higher likelihood of brain and abdominal aortic aneurysms; Increased arterial stiffness and vascular inflammation.
Gene function and biological role
Gene Function: CDKN2B-AS1 encodes a long non-coding RNA that plays a key role in regulating cell proliferation, senescence, and inflammatory responses in vascular tissues [1]. It is located within the CDKN2A-CDKN2B gene cluster on chromosome 9p21.3 [1]. This gene acts as an epigenetic regulator by interacting with polycomb repressive complexes to silence nearby tumor suppressor genes [1]. Alterations in its expression are strongly linked to the development of atherosclerosis and arterial stiffness [2].
Variant Impact: Located in a functional enhancer region on chromosome 9p21.3, this intergenic single nucleotide polymorphism alters vascular health [2]. The G allele of this variant disrupts a binding site for the transcription factor STAT1, which is activated by interferon-gamma [3]. This disruption leads to altered expression of the long non-coding RNA ANRIL and nearby genes like CDKN2A and CDKN2B [2]. Consequently, this molecular change impairs normal cellular responses to inflammation and promotes the progression of arterial plaque [3].
Key Insight: The risk-associated G allele weakens a binding site for an interferon-activated transcription factor, directly impairing how blood vessels handle inflammatory signals.
Location: CDKN2A. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 37.1%; European 26.4%; African 64.7%; East Asian 24.3%; South Asian 22.5%; Americas 27.2%; Ashkenazi 17.1%; Finnish 34.6%; Middle Eastern 20.2%; Amish 26.2%.
Estimated AA genotype frequency.
Global 44.7%; European 50.0%; African 31.5%; East Asian 50.0%; South Asian 49.9%; Americas 49.9%; Ashkenazi 48.5%; Finnish 48.5%; Middle Eastern 49.5%; Amish 50.0%.
Estimated AG genotype frequency.
Global 18.1%; European 23.6%; African 3.8%; East Asian 25.7%; South Asian 27.6%; Americas 22.9%; Ashkenazi 34.3%; Finnish 17.0%; Middle Eastern 30.4%; Amish 23.8%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 4/10. Source: PMID 35915156. ~22% Lower Risk.
Heart Attack. Evidence: 6/10. Source: PMID 17478679. Typical Risk.
Hypertensive Heart Disease. Evidence: 6/10. Source: PMID 39024449. Typical Risk.
Vascular Health & Aneurysm
Brain Aneurysm. Evidence: 6/10. Source: PMID 39024449. ~23% Lower Risk.
Abdominal Aortic Aneurysm. Evidence: 6/10. Source: PMID 24365123. ~23% Lower Risk.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 4/10. Source: PMID 35915156. ~1.3x Higher Risk.
Heart Attack. Evidence: 6/10. Source: PMID 17478679. ~1.3x Higher Risk.
Hypertensive Heart Disease. Evidence: 6/10. Source: PMID 39024449. Slightly Increased.
Brain Aneurysm. Evidence: 6/10. Source: PMID 39024449. Typical Risk.
Abdominal Aortic Aneurysm. Evidence: 6/10. Source: PMID 24365123. Typical Risk.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 4/10. Source: PMID 35915156. ~1.6x Higher Risk.
Heart Attack. Evidence: 6/10. Source: PMID 17478679. ~1.6x Higher Risk.
Hypertensive Heart Disease. Evidence: 6/10. Source: PMID 39024449. Increased Risk.
Brain Aneurysm. Evidence: 6/10. Source: PMID 39024449. ~1.3x Higher Risk.
Abdominal Aortic Aneurysm. Evidence: 6/10. Source: PMID 24365123. ~1.3x Higher Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Reduced susceptibility to coronary artery disease and myocardial infarction is a key feature of this genetic profile [1]. Research indicates that having two copies of the A allele correlates with a 22% reduction in coronary heart disease risk and a 23% lower risk of developing brain or abdominal aortic aneurysms [2]. At the molecular level, this genotype supports the normal expression of the long non-coding RNA ANRIL and nearby tumor suppressor genes [3]. This baseline expression helps regulate cell proliferation and limits the development of arterial stiffness [4]. Consequently, the cardiovascular system is better protected against chronic inflammatory damage and plaque buildup [3]. Clinical studies across diverse populations have consistently replicated these protective cardiovascular effects [1].
Reduced risk of coronary artery disease; Lower likelihood of brain and aortic aneurysms; Typical arterial elasticity and inflammatory response.
Sample genotype: AG (Heterozygous)
Increased risk of developing coronary artery disease and experiencing a heart attack is linked to this genetic profile [1]. Studies show that individuals with this heterozygous genotype have approximately a 1.3-fold higher risk of myocardial infarction compared to non-carriers [2]. This risk is particularly notable for early-onset heart attacks, where the odds are increased by nearly 1.5-fold [2]. The presence of the G allele slightly disrupts the binding of key transcription factors, leading to altered expression of the ANRIL gene [3]. This molecular shift can contribute to gradual arterial stiffness and a heightened inflammatory response within vascular walls [4]. While the risk for aneurysms remains relatively typical, proactive cardiovascular health management is beneficial [1].
Moderately increased risk of coronary artery disease; Slightly higher risk of early-onset heart attack; Potential for mild increase in arterial stiffness.
Sample genotype: GG (Homozygous)
Substantially elevated risk of cardiovascular complications is a primary characteristic of this genetic profile [1]. Clinical data indicates a 1.6-fold increased risk for heart attacks and a 1.3-fold higher risk for both brain and abdominal aortic aneurysisms [2]. For early-onset myocardial infarction, the risk can be up to twice as high compared to those with the protective genotype [1]. This genetic variant disrupts a critical binding site for the STAT1 transcription factor, which impairs the interferon-gamma signaling pathway [3]. As a result, the expression of the long non-coding RNA ANRIL and adjacent tumor suppressor genes is significantly reduced [4]. This molecular imbalance promotes vascular smooth muscle proliferation, accelerates plaque formation, and increases arterial stiffness [4]. Proactive management of traditional cardiovascular risk factors is highly relevant for individuals with this genotype [1].
Significantly increased risk of coronary artery disease; Higher likelihood of brain and abdominal aortic aneurysms; Increased arterial stiffness and vascular inflammation.
Variants with shared genetic architecture
rs3731211 · CDKN2A Gene · Chr 9 · Breast Cancer Risk
rs104894099 · CDKN2A Gene · Chr 9 · Melanoma and Cancer Risk
rs104894094 · CDKN2A Gene · Chr 9 · Hereditary Cancer Risk
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
9p21 DNA variants associated with coronary artery disease impair interferon-γ signalling response.
A common variant on chromosome 9p21 affects the risk of myocardial infarction.
Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.
Content updated August 2026.
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