What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 5/10 evidence, 52 publications.
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Sample genotype (not yours): A/A
Typical Cardiovascular Risk
Baseline risk for heart disease and related vascular conditions is expected.
What this genotype means: Typical baseline risk for coronary artery disease; Lower risk of abdominal aortic aneurysm compared to G carriers.
Sample genotype (not yours): A/G
Moderately Increased Heart Disease Risk
Susceptibility to coronary artery disease and angina is moderately elevated.
What this genotype means: Approximately 1.2x higher risk of coronary artery disease; Increased susceptibility to angina and abdominal aortic aneurysm.
Sample genotype (not yours): G/G
Elevated Heart Disease Risk
Susceptibility to coronary artery disease and early-onset heart issues is significantly increased.
What this genotype means: Approximately 1.3x higher risk of coronary artery disease; Elevated risk of severe three-vessel coronary artery disease and aneurysms.
Gene function and biological role
Gene Function: CDKN2B-AS1, also known as ANRIL, is a long non-coding RNA gene located on chromosome 9p21.3 [1]. It plays a critical role in regulating the expression of nearby genes involved in cell proliferation and aging, such as CDKN2A and CDKN2B [2]. This genomic region is widely recognized as one of the most significant genetic susceptibility loci for cardiovascular diseases [3]. Altered expression of ANRIL is thought to promote inflammation, smooth muscle cell dysfunction, and plaque instability in arterial walls [4].
Variant Impact: The rs10757274 variant is an intronic single nucleotide polymorphism located within the CDKN2B-AS1 gene on chromosome 9p21.3. This genetic change alters the expression levels of the long non-coding RNA ANRIL, which downstream affects cellular aging and inflammatory pathways in vascular tissue [5]. The G allele is a well-established risk factor that significantly increases susceptibility to coronary artery disease and early-onset heart attacks [6]. Conversely, the A allele is associated with normal or baseline cardiovascular risk [7].
Key Insight: This variant is located in the famous 9p21 region, often called the heart attack gene region, which is the strongest genetic predictor of early heart disease discovered to date.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 35.8%; European 25.4%; African 61.3%; East Asian 26.6%; South Asian 22.8%; Americas 29.5%; Ashkenazi 14.2%; Finnish 32.1%; Middle Eastern 13.2%; Amish 25.8%.
Estimated AA genotype frequency.
Global 45.4%; European 50.0%; African 34.0%; East Asian 49.9%; South Asian 49.9%; Americas 49.6%; Ashkenazi 47.0%; Finnish 49.1%; Middle Eastern 46.3%; Amish 50.0%.
Estimated AG genotype frequency.
Global 18.8%; European 24.6%; African 4.7%; East Asian 23.4%; South Asian 27.3%; Americas 20.9%; Ashkenazi 38.8%; Finnish 18.8%; Middle Eastern 40.5%; Amish 24.2%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 7/10. Source: PMID 22751097. Typical Risk.
Angina. Evidence: 8/10. Source: PMID 34594039. Typical Risk.
Vascular Health & Aneurysm
Abdominal Aortic Aneurysm. Evidence: 6/10. Source: PMID 27899403. Typical Risk.
Pharmacogenomics
Adverse Drug Reactions
NSAID Heart Effects. Evidence: 5/10. Source: PMID 20538124. Lower ACS Risk.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 7/10. Source: PMID 22751097. ~1.2x Increased Risk.
Angina. Evidence: 8/10. Source: PMID 34594039. Increased Risk.
Abdominal Aortic Aneurysm. Evidence: 6/10. Source: PMID 27899403. Increased Risk.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 7/10. Source: PMID 22751097. ~1.3x Increased Risk.
NSAID Heart Effects. Evidence: 5/10. Source: PMID 20538124. Typical Response.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Carrying two copies of the protective A allele is associated with a typical baseline risk for coronary artery disease [1]. Large-scale genomic studies indicate that this genotype does not carry the elevated susceptibility to early-onset heart attacks or angina seen in carriers of the G allele [2]. Additionally, research suggests a lower risk of developing abdominal aortic aneurysms compared to those with the risk variant [3]. Some evidence also points to a decreased likelihood of experiencing acute coronary syndrome when using non-steroidal anti-inflammatory drugs (NSAIDs) [4].
Typical baseline risk for coronary artery disease; Lower risk of abdominal aortic aneurysm compared to G carriers.
Sample genotype: AG (Heterozygous)
Carrying one copy of the G risk allele is associated with an approximately 1.2-fold increase in the risk of developing coronary artery disease [1]. This genetic variant, located in the well-studied 9p21 region, is a strong predictor of early-onset heart disease and myocardial infarction [2]. Research also links this profile to a higher likelihood of experiencing angina and requiring cardiac medications [3]. There is an associated increase in the risk of abdominal aortic aneurysms [4]. Interestingly, some pharmacogenomic data suggests a decreased likelihood of acute coronary syndrome when taking NSAIDs, though the overall cardiovascular risk remains elevated [5].
Approximately 1.2x higher risk of coronary artery disease; Increased susceptibility to angina and abdominal aortic aneurysm.
Sample genotype: GG (Homozygous)
Carrying two copies of the G risk allele is associated with an approximately 1.3-fold increased risk of coronary artery disease [1]. This genotype represents the highest genetic risk category at the 9p21 locus, which is widely recognized as a major contributor to early-onset heart attacks [2]. Clinical studies have shown strong associations with severe coronary conditions, including three-vessel coronary artery disease [3]. There is also a heightened risk of developing angina and requiring antithrombotic or vasodilator medications [4]. Furthermore, this profile is linked to an increased susceptibility to abdominal aortic aneurysms [5]. These genetic factors operate independently of traditional markers like cholesterol.
Approximately 1.3x higher risk of coronary artery disease; Elevated risk of severe three-vessel coronary artery disease and aneurysms.
Variants with shared genetic architecture
rs1333049 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs2891168 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs4977574 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression.
Genetic and genomic insights into the molecular basis of atherosclerosis.
Meta-analysis of genetic association of chromosome 9p21 with early-onset coronary artery disease.
A cross-population atlas of genetic associations for 220 human phenotypes.
Genetic polymorphisms and the cardiovascular risk of non-steroidal anti-inflammatory drugs.
Rs10757274 gene polymorphisms in coronary artery disease: A systematic review and a meta-analysis.
Susceptible gene polymorphism in patients with three-vessel coronary artery disease.
Content updated September 2026.
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