What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 8/10 evidence, 13 publications.
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Sample genotype (not yours): C/C
Typical Heart Disease Risk but Higher Cholesterol
Carrying two copies of the C allele is associated with a typical baseline risk of heart disease, aneurysms, and inflammatory conditions. However, it is linked to slightly higher levels of LDL and total cholesterol.
What this genotype means: Typical baseline risk of coronary artery disease; Lower susceptibility to brain aneurysms; Slightly higher circulating LDL cholesterol.
Sample genotype (not yours): C/T
Moderately Increased Risk of Heart Disease
Carrying one copy of the T allele is linked to a moderately increased risk of coronary artery disease and brain aneurysms. It also slightly raises the susceptibility to asthma and endometriosis while maintaining typical lipid levels.
What this genotype means: Moderately increased risk of coronary artery disease; Slightly higher risk of brain aneurysms; Typical baseline cholesterol levels.
Sample genotype (not yours): T/T
Higher Risk of Heart Disease and Aneurysms
Inheriting two copies of the T allele is associated with a significantly higher risk of coronary artery disease and brain aneurysms. It also correlates with a higher likelihood of asthma and endometriosis, though lipid levels may be slightly lower.
What this genotype means: Significantly increased risk of coronary artery disease; Higher susceptibility to brain aneurysms; Slightly lower circulating LDL cholesterol.
Gene function and biological role
Gene Function: CDKN2B-AS1, also known as ANRIL, is a long non-coding RNA gene located on chromosome 9p21. It plays a critical role in regulating cell proliferation, senescence, and inflammatory responses in the vascular wall [1]. Variations in this gene are strongly linked to cardiovascular diseases, including coronary artery disease and intracranial aneurysms [2]. The gene acts epigenetically to silence neighboring tumor suppressors like CDKN2A and CDKN2B, which control the cell cycle [3]. This regulation is essential for maintaining blood vessel integrity and preventing the abnormal cell growth that leads to arterial plaque buildup [4].
Variant Impact: The intron variant rs6475606 is located within the CDKN2B-AS1 gene on chromosome 9. This genetic change influences the expression levels of the ANRIL non-coding RNA, thereby altering the regulation of nearby genes involved in cell cycle control [2]. It is one of the most widely studied markers in the famous 9p21 risk locus, which is associated with arterial diseases [4]. Interestingly, the variant affects cardiovascular risk through mechanisms that are largely independent of traditional risk factors like blood pressure or body mass [5]. It also shows distinct associations with circulating lipid levels, suggesting a complex metabolic role [6].
Key Insight: The 9p21 genetic locus increases heart disease risk through blood vessel wall inflammation and cellular aging, completely independent of traditional risk factors like cholesterol levels.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 17.8%; European 25.8%; African 1.2%; East Asian 9.3%; South Asian 15.1%; Americas 20.0%; Ashkenazi 12.6%; Finnish 34.4%; Middle Eastern 7.4%; Amish 30.4%.
Estimated CC genotype frequency.
Global 41.0%; European 50.0%; African 19.6%; East Asian 42.3%; South Asian 47.5%; Americas 49.4%; Ashkenazi 45.8%; Finnish 48.5%; Middle Eastern 39.6%; Amish 49.5%.
Estimated CT genotype frequency.
Global 41.3%; European 24.2%; African 79.2%; East Asian 48.4%; South Asian 37.4%; Americas 30.5%; Ashkenazi 41.6%; Finnish 17.1%; Middle Eastern 53.0%; Amish 20.1%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 4/10. Source: PMID 21347282. Typical Risk.
Vascular Health & Aneurysm
Brain Aneurysm. Evidence: 4/10. Source: PMID 22961961. Typical Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Higher Levels.
Organ Systems
Respiratory Health
Asthma. Evidence: 6/10. Source: PMID 35472084. Typical Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Endometriosis. Evidence: 6/10. Source: PMID 35472084. Typical Risk.
Showing effects for C/T genotype
Coronary Artery Disease. Evidence: 4/10. Source: PMID 21347282. ~1.30x Risk.
Brain Aneurysm. Evidence: 4/10. Source: PMID 22961961. Increased Risk.
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Typical Levels.
Asthma. Evidence: 6/10. Source: PMID 35472084. Slightly Higher Risk.
Endometriosis. Evidence: 6/10. Source: PMID 35472084. Slightly Higher Risk.
Showing effects for T/T genotype
Coronary Artery Disease. Evidence: 4/10. Source: PMID 21347282. ~1.54x Risk.
LDL Cholesterol. Evidence: 8/10. Source: PMID 32203549. Lower Levels.
Asthma. Evidence: 6/10. Source: PMID 35472084. Increased Risk.
Endometriosis. Evidence: 6/10. Source: PMID 35472084. Increased Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Possessing two copies of the C allele provides a protective effect against the elevated cardiovascular risks associated with the 9p21 locus [1]. This genotype is linked to a typical baseline risk of coronary artery disease and a lower susceptibility to brain aneurysms compared to T allele carriers [2]. It also correlates with a lower likelihood of developing inflammatory conditions like asthma and endometriosis [3]. However, metabolic profiling reveals that the C allele is associated with higher levels of circulating LDL cholesterol, total cholesterol, and apolipoprotein B [4]. This presents an interesting genetic trade-off where the genotype with lower direct arterial disease risk has slightly higher lipid markers [5]. Because the 9p21 locus primarily affects blood vessel wall integrity rather than lipid clearance, the higher cholesterol levels still warrant standard cardiovascular wellness monitoring [6].
Typical baseline risk of coronary artery disease; Lower susceptibility to brain aneurysms; Slightly higher circulating LDL cholesterol.
Sample genotype: CT (Heterozygous)
Inheriting one T allele and one C allele is associated with a 1.30-fold increase in the risk of developing coronary artery disease [1]. This moderate risk elevation is driven by the 9p21 locus, which influences how cells in the blood vessel walls proliferate and respond to inflammation [2]. Clinical studies have also identified a moderately higher risk of intracranial aneurysms in individuals with this heterozygous genotype [3]. Additionally, there is a shared genetic susceptibility to asthma and endometriosis linked to this variant [4]. On the metabolic side, lipid markers such as LDL cholesterol and total cholesterol tend to remain near typical baseline levels [5]. Because the cardiovascular risk of the 9p21 locus bypasses traditional cholesterol pathways, maintaining excellent lifestyle habits is particularly important [6].
Moderately increased risk of coronary artery disease; Slightly higher risk of brain aneurysms; Typical baseline cholesterol levels.
Sample genotype: TT (Homozygous)
Carrying two copies of the T allele increases the susceptibility to coronary artery disease by approximately 1.54 times [1]. This genetic variant is located in the 9p21 region, a well-known hotspot for cardiovascular risk that operates independently of traditional factors like obesity or high blood pressure [2]. Research also links this genotype to an increased risk of intracranial aneurysms, which are balloon-like bulges in brain arteries [3]. Beyond vascular health, the T allele is associated with an elevated risk of inflammatory conditions such as asthma and endometriosis [4]. Conversely, metabolic studies indicate that this genotype is associated with slightly lower levels of LDL cholesterol and apolipoprotein B [5]. Despite the slightly favorable lipid profile, the overall cardiovascular risk remains elevated due to direct effects on blood vessel wall stability and cellular aging [6].
Significantly increased risk of coronary artery disease; Higher susceptibility to brain aneurysms; Slightly lower circulating LDL cholesterol.
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
Molecular genetics of myocardial infarction.
Genetic testing for atherosclerosis risk: inevitability or pipe dream?
A genetic map of human metabolism across the allele frequency spectrum.
Content updated August 2026.
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