What you carry at this position in your DNA and what research says about it.
Heart Disease Risk: 7/10 evidence, 38 publications.
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Sample genotype (not yours): A/A
Typical Heart Risk but Higher Asthma Susceptibility
This genotype is associated with a typical baseline risk for coronary artery disease. However, it carries an increased susceptibility to inflammatory conditions like asthma and endometriosis.
What this genotype means: Typical cardiovascular risk profile; Increased susceptibility to asthma; Increased susceptibility to endometriosis.
Sample genotype (not yours): A/G
Moderately Increased Heart Risk
Carrying one copy of the G allele is linked to a moderately elevated risk of coronary artery disease. It also represents an intermediate risk profile for asthma and endometriosis.
What this genotype means: Moderately elevated risk of coronary artery disease; Slightly increased risk of ischemic stroke; Intermediate risk for asthma and endometriosis.
Sample genotype (not yours): G/G
Significantly Increased Heart Risk
Having two copies of the G allele is associated with a significantly higher risk of coronary artery disease. Conversely, this profile offers protection against asthma and endometriosis.
What this genotype means: Significantly higher risk of coronary artery disease; Elevated risk of ischemic stroke; Typical or lower risk of asthma and endometriosis.
Gene function and biological role
Gene Function: The CDKN2B-AS1 gene encodes a long non-coding RNA known as ANRIL. This molecule plays a critical role in cell proliferation, senescence, and apoptosis by epigenetically regulating nearby genes [1]. It is widely recognized as a major susceptibility locus for cardiovascular diseases, including coronary artery disease and myocardial infarction [2]. Alterations in its expression are also implicated in other inflammatory and proliferative conditions such as stroke and type 2 diabetes.
Variant Impact: The rs2383207 variant is an intronic single nucleotide polymorphism located within the CDKN2B-AS1 gene. This genetic variation is thought to alter the expression levels of the ANRIL transcript, affecting cell cycle regulation [1]. The G allele of this variant is strongly associated with increased susceptibility to coronary artery disease and ischemic stroke [3]. Conversely, the A allele has been linked to an increased risk of inflammatory conditions like asthma and endometriosis [4].
Key Insight: This variant represents a genetic trade-off where the allele that increases heart disease risk actually lowers the risk of asthma and endometriosis.
Location: CDKN2B-AS1. Chromosome 9 · 9p21.3 · 22.1 Mb
Estimated prevalence by population
Global 15.6%; European 22.7%; African 1.0%; East Asian 10.9%; South Asian 14.2%; Americas 15.1%; Ashkenazi 10.5%; Finnish 32.3%; Middle Eastern 6.2%; Amish 25.4%.
Estimated AA genotype frequency.
Global 40.4%; European 49.9%; African 18.3%; East Asian 44.2%; South Asian 47.0%; Americas 47.5%; Ashkenazi 43.8%; Finnish 49.1%; Middle Eastern 37.3%; Amish 50.0%.
Estimated AG genotype frequency.
Global 44.0%; European 27.4%; African 80.6%; East Asian 45.0%; South Asian 38.9%; Americas 37.4%; Ashkenazi 45.7%; Finnish 18.6%; Middle Eastern 56.5%; Amish 24.6%.
Estimated GG genotype frequency.
Showing effects for A/A genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 6/10. Source: PMID 18459066. Typical Risk.
Stroke
Ischemic Stroke. Evidence: 4/10. Source: PMID 28716248. Typical Risk.
Organ Systems
Respiratory Health
Asthma. Evidence: 7/10. Source: PMID 35126453. Increased Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Endometriosis. Evidence: 6/10. Source: PMID 35472084. Increased Risk.
Showing effects for A/G genotype
Coronary Artery Disease. Evidence: 6/10. Source: PMID 18459066. Moderately Increased.
Ischemic Stroke. Evidence: 4/10. Source: PMID 28716248. Slightly Increased.
Asthma. Evidence: 7/10. Source: PMID 35126453. Slightly Increased.
Endometriosis. Evidence: 6/10. Source: PMID 35472084. Slightly Increased.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 6/10. Source: PMID 18459066. ~1.5x to 2.3x Risk.
Ischemic Stroke. Evidence: 4/10. Source: PMID 28716248. Increased Risk.
Asthma. Evidence: 7/10. Source: PMID 35126453. Typical Risk.
Endometriosis. Evidence: 6/10. Source: PMID 35472084. Typical Risk.
What this genotype means for the people who carry it
Sample genotype: AA (Homozygous)
Possessing two copies of the A allele is associated with a typical or lower risk of coronary artery disease and other cardiovascular conditions [1]. This genotype is considered protective against myocardial infarction and ischemic stroke compared to G-allele carriers [2]. However, the A allele is the risk-increasing variant for certain inflammatory and reproductive conditions. Research has linked this profile to a higher susceptibility to asthma and endometriosis [3].
Typical cardiovascular risk profile; Increased susceptibility to asthma; Increased susceptibility to endometriosis.
Sample genotype: AG (Heterozygous)
Carrying one copy of the G allele and one copy of the A allele is linked to a moderately increased risk of cardiovascular issues. Studies show that this intermediate genotype elevates the likelihood of developing coronary artery disease compared to the protective double-A profile [1]. There is also a slight increase in susceptibility to ischemic stroke and abdominal aortic aneurysms [2]. On the other hand, the presence of the A allele moderately increases the risk of developing asthma and endometriosis [3]. This dual profile represents a genetic trade-off between cardiovascular risks and inflammatory conditions. Focusing on cardiovascular wellness and monitoring respiratory health can help mitigate these risks.
Moderately elevated risk of coronary artery disease; Slightly increased risk of ischemic stroke; Intermediate risk for asthma and endometriosis.
Sample genotype: GG (Homozygous)
Inheriting two copies of the G allele is associated with a significantly higher risk of coronary artery disease and myocardial infarction [1]. Research indicates that this genotype may increase the risk of early-onset heart disease by up to 1.5 to 2.3 times compared to the typical baseline [2]. The G allele also elevates the susceptibility to ischemic stroke and abdominal aortic aneurysms [3]. However, this genetic profile appears to offer a protective effect against inflammatory conditions, showing a lower risk of asthma and endometriosis [4]. Managing cardiovascular health through lifestyle choices remains highly effective regardless of genetic predisposition.
Significantly higher risk of coronary artery disease; Elevated risk of ischemic stroke; Typical or lower risk of asthma and endometriosis.
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 early-onset coronary artery disease.
Content updated August 2026.
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