What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 10/10 evidence, 46 publications.
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Sample genotype (not yours): A/A
Typical Heart and Blood Vessel Risk
Carrying two copies of the protective A allele is associated with a typical risk of heart disease and aneurysms. Although cholesterol levels may be slightly higher, the overall risk of arterial plaque buildup remains at baseline.
What this genotype means: Typical risk of coronary artery disease; Typical risk of myocardial infarction; Slightly higher LDL cholesterol.
Sample genotype (not yours): A/G
Moderately Elevated Heart Disease Risk
Carrying one copy of the G allele is linked to a moderately increased risk of coronary artery disease and heart attacks. It also slightly raises the likelihood of developing arterial aneurysms.
What this genotype means: Moderately increased risk of coronary artery disease; Slightly increased risk of heart attacks; Slightly increased risk of brain aneurysms.
Sample genotype (not yours): G/G
Significantly Elevated Heart Disease Risk
Carrying two copies of the G allele is associated with an approximately 1.5-fold higher risk of coronary artery disease and heart attacks. It also increases the risk of peripheral vascular disease and aneurysms.
What this genotype means: Significantly increased risk of coronary artery disease; Elevated risk of myocardial infarction; Increased risk of abdominal aortic aneurysms.
Gene function and biological role
Gene Function: The CDKN2B-AS1 gene, also known as ANRIL, produces a long non-coding RNA that plays a critical role in regulating cell proliferation and senescence [1]. It is located within the 9p21.3 chromosomal region, which is a major hotspot for cardiovascular disease susceptibility [2]. This non-coding RNA interacts with chromatin-modifying complexes to epigenetically silence neighboring tumor suppressor genes like CDKN2A and CDKN2B [1]. Alterations in its expression can significantly affect vascular smooth muscle cell growth and endothelial function [3]. Consequently, variation in this gene is heavily implicated in the development of atherosclerosis and plaque instability [3].
Variant Impact: The rs4977574 variant is an intronic single nucleotide polymorphism located within the CDKN2B-AS1 gene on chromosome 9. Although it does not directly alter a protein sequence, this genetic change influences the expression levels of nearby cyclin-dependent kinase inhibitors [1]. Specifically, the G allele is associated with altered splicing of the ANRIL transcript, favoring forms that promote arterial plaque buildup [3]. This molecular shift increases susceptibility to arterial wall weakening and narrowing [4]. Multiple large-scale studies have confirmed its strong association with coronary artery disease and myocardial infarction [4] [5].
Key Insight: This variant is located in the famous 9p21.3 region, often called the gene desert, which is the strongest common genetic predictor of heart disease discovered to date.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 37.4%; European 25.4%; African 66.9%; East Asian 26.6%; South Asian 22.7%; Americas 30.1%; Ashkenazi 14.2%; Finnish 32.1%; Middle Eastern 13.5%; Amish 25.6%.
Estimated AA genotype frequency.
Global 44.2%; European 50.0%; African 29.8%; East Asian 50.0%; South Asian 49.9%; Americas 49.5%; Ashkenazi 47.0%; Finnish 49.1%; Middle Eastern 46.5%; Amish 50.0%.
Estimated AG genotype frequency.
Global 18.3%; European 24.6%; African 3.3%; East Asian 23.5%; South Asian 27.4%; Americas 20.3%; Ashkenazi 38.9%; Finnish 18.8%; Middle Eastern 40.0%; Amish 24.5%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 10/10. Source: PMID 21378990. Typical Risk.
Heart Attack. Evidence: 9/10. Source: PMID 19198609. Typical Risk.
Vascular Health & Aneurysm
Brain Aneurysm. Evidence: 8/10. Source: PMID 32514122. Typical Risk.
Abdominal Aortic Aneurysm. Evidence: 8/10. Source: PMID 37845353. Typical Risk.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 39024449. Typical Risk.
Lipids & Cholesterol
Cholesterol Levels. Evidence: 8/10. Source: PMID 39024449. Slightly Higher.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 21378990. ~1.3x Increased Risk.
Heart Attack. Evidence: 9/10. Source: PMID 19198609. Slightly Increased.
Brain Aneurysm. Evidence: 8/10. Source: PMID 32514122. Slightly Increased.
Abdominal Aortic Aneurysm. Evidence: 8/10. Source: PMID 37845353. Slightly Increased.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 39024449. Slightly Increased.
Cholesterol Levels. Evidence: 8/10. Source: PMID 39024449. Typical.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 10/10. Source: PMID 21378990. ~1.5x Increased Risk.
Heart Attack. Evidence: 9/10. Source: PMID 19198609. ~1.5x to 1.8x Risk.
Brain Aneurysm. Evidence: 8/10. Source: PMID 32514122. ~1.2x Increased Risk.
Abdominal Aortic Aneurysm. Evidence: 8/10. Source: PMID 37845353. Increased Risk.
Peripheral Artery Disease. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
Cholesterol Levels. Evidence: 8/10. Source: PMID 39024449. Slightly Lower.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Maintaining two copies of the ancestral A allele provides a relative safeguard against several major cardiovascular conditions. Large-scale genome-wide association studies show that this genotype is associated with a lower risk of coronary artery disease compared to G allele carriers [1]. The risk of experiencing a myocardial infarction or heart attack is also significantly lower [2]. Furthermore, the likelihood of developing intracranial or abdominal aortic aneurysms is not elevated [3] [4]. While some research suggests a slight increase in LDL and total cholesterol levels, this metabolic shift does not outweigh the protective vascular benefits [4]. Smooth muscle cells in the arterial walls maintain typical growth and structural integrity [5]. This baseline risk profile is the most common genetic pattern globally.
Typical risk of coronary artery disease; Typical risk of myocardial infarction; Slightly higher LDL cholesterol.
Sample genotype: AG (Heterozygous)
Possessing a single copy of the G risk allele shifts the vascular risk profile toward moderate susceptibility. Clinical data indicate that heterozygotes have approximately a 1.3-fold increased risk of developing coronary artery disease [1]. The likelihood of experiencing a myocardial infarction is also elevated, though some studies report mixed findings regarding the absolute impact [2]. This genetic pattern is associated with altered expression of the ANRIL non-coding RNA, which can accelerate the progression of atherosclerosis [3]. Additionally, there is a modest increase in the risk of both brain and abdominal aortic aneurysms [4] [5]. On the other hand, LDL and total cholesterol levels may be slightly lower, but this does not offset the direct arterial wall risks [5]. Proactive cardiovascular health habits are particularly beneficial for managing this inherited risk.
Moderately increased risk of coronary artery disease; Slightly increased risk of heart attacks; Slightly increased risk of brain aneurysms.
Sample genotype: GG (Homozygous)
Carrying two copies of the G risk allele represents one of the strongest common genetic risk factors for cardiovascular disease. Multiple large-scale studies have demonstrated that this genotype increases the risk of coronary artery disease by approximately 1.5 times [1]. The risk of experiencing a myocardial infarction is also substantially elevated, with some cohorts showing up to a 1.8-fold increase [2]. This genetic variant alters the regulation of genes that control cell growth in the arterial walls, promoting plaque formation and instability [3]. There is also a significantly higher likelihood of developing brain aneurysms and abdominal aortic aneurysms [4] [5]. Additionally, the risk of peripheral vascular disease is elevated, affecting blood flow to the limbs [5]. Despite slightly lower circulating LDL cholesterol levels, the direct structural impact on the arteries remains highly pronounced [5]. Focus on blood pressure control, a healthy diet, and regular exercise is highly relevant for individuals with this profile.
Significantly increased risk of coronary artery disease; Elevated risk of myocardial infarction; Increased risk of abdominal aortic aneurysms.
Variants with shared genetic architecture
rs1333049 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs2891168 · CDKN2B-AS1 Gene · Chr 9 · Heart Disease Risk
rs1011970 · CDKN2B-AS1 Gene · Chr 9 · Breast Cancer Risk
Genetics of coronary artery disease: focus on genome-wide association studies.
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
Content updated August 2026.
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