What you carry at this position in your DNA and what research says about it.
Cardiovascular Disease Risk: 6/10 evidence, 37 publications.
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Sample genotype (not yours): C/C
Typical Cardiovascular Risk
Carrying two copies of the C allele is associated with a typical or lower risk of heart disease, stroke, and brain aneurysms. However, there is a very slight increase in susceptibility to squamous cell lung cancer.
What this genotype means: Lower risk of heart attacks; Lower risk of brain aneurysms; Typical metabolic profile.
Sample genotype (not yours): C/T
Moderately Increased Cardiovascular Risk
Having one copy of the T allele moderately increases the risk of coronary artery disease, stroke, and brain aneurysms. It is also linked to slightly higher systemic inflammation markers.
What this genotype means: Moderately increased heart attack risk; Moderately increased brain aneurysm risk; Slightly higher inflammation markers.
Sample genotype (not yours): T/T
Significantly Increased Cardiovascular Risk
Carrying two copies of the T allele is associated with the highest risk of heart disease, stroke, and brain aneurysms. This genotype is also linked to elevated systemic inflammation and type 2 diabetes.
What this genotype means: Highest risk of heart attacks; Highest risk of brain aneurysms; Elevated systemic inflammation.
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. It plays a critical role in regulating genes involved in cell proliferation, senescence, and inflammation [1]. This genomic region is highly associated with multiple vascular and metabolic diseases [1]. ANRIL expression levels are altered by genetic variants in this locus, affecting cellular responses in the arterial wall [1].
Variant Impact: The rs1333040 variant is located in an intron of the CDKN2B-AS1 gene on chromosome 9p21.3. This specific genetic marker is one of the most strongly replicated risk factors for cardiovascular conditions [2]. The T allele is associated with altered expression of ANRIL, which influences inflammatory pathways and vascular remodeling [1]. This molecular change increases susceptibility to arterial wall weakening and plaque buildup [2].
Key Insight: This variant lies in a gene desert on chromosome 9p21, yet it is one of the most powerful genetic predictors of heart disease discovered to date.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 16.9%; European 17.2%; African 14.7%; East Asian 9.3%; South Asian 13.5%; Americas 18.6%; Ashkenazi 9.1%; Finnish 30.0%; Middle Eastern 5.3%; Amish 17.9%.
Estimated CC genotype frequency.
Global 47.8%; European 48.6%; African 47.3%; East Asian 42.4%; South Asian 46.5%; Americas 49.0%; Ashkenazi 42.1%; Finnish 49.6%; Middle Eastern 35.6%; Amish 48.8%.
Estimated CT genotype frequency.
Global 35.2%; European 34.2%; African 38.0%; East Asian 48.3%; South Asian 40.1%; Americas 32.4%; Ashkenazi 48.8%; Finnish 20.5%; Middle Eastern 59.1%; Amish 33.3%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 17478679. Typical Risk.
Vascular Health & Aneurysm
Brain Aneurysm. Evidence: 6/10. Source: PMID 18997786. Typical Risk.
Stroke
Stroke. Evidence: 6/10. Source: PMID 38409652. Typical Risk.
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 6/10. Source: PMID 38409652. Typical Risk.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
Interleukin-6 Levels. Evidence: 4/10. Source: PMID 27989323. Typical Levels.
Cancer & Oncology
Lung Cancer
Squamous Lung Cancer. Evidence: 3/10. Source: PMID 28604730. ~1.1x Increased Risk.
Showing effects for C/T genotype
Coronary Artery Disease. Evidence: 6/10. Source: PMID 17478679. ~1.24x Increased Risk.
Brain Aneurysm. Evidence: 6/10. Source: PMID 18997786. ~1.24x Increased Risk.
Stroke. Evidence: 6/10. Source: PMID 38409652. Slightly Increased.
Type 2 Diabetes. Evidence: 6/10. Source: PMID 38409652. Slightly Increased.
Interleukin-6 Levels. Evidence: 4/10. Source: PMID 27989323. Slightly Elevated.
Squamous Lung Cancer. Evidence: 3/10. Source: PMID 28604730. Slightly Increased.
Showing effects for T/T genotype
Coronary Artery Disease. Evidence: 6/10. Source: PMID 17478679. ~1.52x Increased Risk.
Brain Aneurysm. Evidence: 6/10. Source: PMID 18997786. ~1.54x Increased Risk.
Stroke. Evidence: 6/10. Source: PMID 38409652. Increased Risk.
Type 2 Diabetes. Evidence: 6/10. Source: PMID 38409652. Increased Risk.
Interleukin-6 Levels. Evidence: 4/10. Source: PMID 27989323. Elevated Levels.
Squamous Lung Cancer. Evidence: 3/10. Source: PMID 28604730. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
This genotype represents the protective baseline for cardiovascular health at the 9p21 locus. Studies show that individuals with two copies of the C allele have a significantly lower risk of coronary artery disease and heart attacks compared to T allele carriers [1]. This protective effect extends to brain aneurysms and ischemic stroke [2]. The mechanism is thought to involve lower systemic inflammation, as indicated by reduced levels of interleukin-6 [3]. While there is a minor association with increased risk for squamous cell lung cancer, the overall health profile is highly favorable for vascular health [4].
Lower risk of heart attacks; Lower risk of brain aneurysms; Typical metabolic profile.
Sample genotype: CT (Heterozygous)
Carrying one copy of the T allele is associated with a moderate increase in the risk of cardiovascular events. Research indicates approximately a 1.24-fold increase in the risk of myocardial infarction and brain aneurysms [1]. This variant affects the expression of the ANRIL gene, leading to altered vascular wall structure and increased plaque vulnerability [2]. Additionally, carriers show slightly elevated levels of interleukin-6, a marker of systemic inflammation [3]. There is also a modest association with an increased risk of developing type 2 diabetes [4].
Moderately increased heart attack risk; Moderately increased brain aneurysm risk; Slightly higher inflammation markers.
Sample genotype: TT (Homozygous)
Having two copies of the T allele represents the highest genetic risk profile at the 9p21 locus. Clinical studies demonstrate a 1.52-fold increase in myocardial infarction risk and a 1.54-fold increase in intracranial aneurysm risk [1]. The double T allele significantly alters ANRIL expression, promoting arterial plaque instability and vascular smooth muscle dysfunction [2]. This genotype is also strongly linked to ischemic stroke and type 2 diabetes [3]. Furthermore, individuals with this genotype tend to have higher circulating levels of the inflammatory cytokine interleukin-6 [4].
Highest risk of heart attacks; Highest risk of brain aneurysms; Elevated systemic inflammation.
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.
A common variant on chromosome 9p21 affects the risk of myocardial infarction.
The association of CDKN2BAS gene polymorphisms and intracranial aneurysm: A meta-analysis.
Genome-wide association study of cardiometabolic multimorbidity in the UK Biobank.
Content updated August 2026.
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