CDKN2B-AS1 rs1333037: What Your Genotype Means
The genetic variant rs1333037 is a common single nucleotide polymorphism located within the CDKN2B-AS1 gene. It is widely recognized in scientific literature for its statistical association with an increased risk of coronary artery disease and myocardial infarction.
What each genotype means
Baseline risk profile
This genotype represents the most common form of this variant in many populations. Research indicates that individuals with this genotype do not carry the specific genetic marker associated with increased risk for coronary artery disease at this location. Please note that cardiovascular health is influenced by many genetic and lifestyle factors, and this result should not be interpreted as a guarantee of health.
This is the most common genotype found in the majority of global populations.
Increased risk marker
This genotype includes one copy of the variant associated with a statistically higher risk of coronary artery disease and myocardial infarction in various studies. While this association is well-documented in scientific literature, it is only one of many factors that contribute to heart health. You should discuss your overall cardiovascular risk profile and any concerns with your healthcare provider.
This genotype is common and found in a significant portion of the population across most ancestries.
Elevated risk marker
This genotype includes two copies of the variant associated with a statistically higher risk of coronary artery disease and myocardial infarction. This association has been observed in large-scale genome-wide association studies, though the actual risk for any individual depends on a complex interplay of genetics, environment, and lifestyle. It is recommended to discuss your cardiovascular health and preventative strategies with a medical professional.
This genotype is frequently observed in many populations, though its exact prevalence varies by ancestry.
Understanding rs1333037: Location and Context
The genetic variant rs1333037 is a single nucleotide polymorphism (SNP) located on chromosome 9p21.3. This region of the human genome is highly significant in cardiovascular genetics. Specifically, rs1333037 sits within the CDKN2B-AS1 gene, also known as ANRIL. This gene produces a long non-coding RNA (lncRNA), which is a type of RNA molecule that does not code for a protein but instead plays a regulatory role in how other genes are expressed. In genomics, SNPs like rs1333037 represent a variation at a single position in the DNA sequence—in this case, a switch between the nucleotides cytosine (C) and guanine (G). Because this variant is situated in a non-coding region that regulates the expression of neighboring genes, researchers study it to understand how structural changes in regulatory DNA can influence the cellular processes that maintain the health of our arteries. It is one of the most widely studied genetic markers in the context of cardiovascular health.
The Role of CDKN2B-AS1 (ANRIL)
The CDKN2B-AS1 gene acts as a master regulator in the cell. Its primary function involves controlling the expression of adjacent genes—CDKN2A and CDKN2B—which are critical for cell cycle regulation, senescence (the process of cellular aging), and apoptosis (programmed cell death). By influencing these pathways, the ANRIL molecule helps determine how vascular smooth muscle cells and endothelial cells behave. When the expression of CDKN2B-AS1 is altered, it can impact the stability and function of the cells that line the heart's blood vessels. Research suggests that variations in this region may contribute to vascular inflammation or the buildup of plaques in the arteries. While the gene itself does not cause disease in a direct, deterministic way, its regulatory role makes it a key player in the complex biological networks that influence how the cardiovascular system responds to stressors over a lifetime.
Association With Cardiovascular Health
The evidence linking rs1333037 to health outcomes is primarily derived from large-scale Genome-Wide Association Studies (GWAS). These studies have consistently identified this SNP as being associated with an increased risk of coronary artery disease (CAD) and myocardial infarction (heart attack). The evidence strength for this association is categorized as limited in some contexts because, while the statistical link is strong across many populations, the biological mechanism is still being actively researched. It is crucial to understand that GWAS findings reflect statistical associations, not individual diagnoses. Possessing the risk-associated allele does not guarantee the development of heart disease, nor does the absence of it guarantee immunity. Many other factors—including lifestyle, diet, blood pressure, cholesterol levels, and other genetic contributors—play significant roles in cardiovascular health. Genetic markers like rs1333037 should be viewed as one piece of a much larger, complex puzzle rather than a standalone predictor of one's future health.
Navigating Genetic Information
When you receive information about your genotype for rs1333037, it is important to maintain perspective. Genetic science is probabilistic, not deterministic. Knowing your genotype for this variant does not allow you to predict your personal risk of heart disease with certainty, nor does it provide a specific medical action plan. Genetic testing results for common variants are not diagnostic; they are research-level observations. If you are concerned about your heart health, the most effective steps are those established by clinical guidelines: maintaining a heart-healthy diet, engaging in regular physical activity, managing blood pressure and cholesterol, and avoiding tobacco products. If you have questions about how your family history or genetic background might influence your cardiovascular risk, consult with a physician or a certified genetic counselor. They can help you interpret your overall risk profile based on clinical markers that are far more predictive and actionable than any single SNP.
How common is this variant?
The rs1333037 variant is common in most populations, with both the C and G alleles appearing at significant frequencies globally.
Frequently asked questions
Does having a higher-attention genotype mean I will have a heart attack?
No. Having a specific genotype associated with higher risk in a GWAS study does not mean you will develop heart disease. Most heart health outcomes are driven by a combination of lifestyle factors, environment, and thousands of other genetic variants working together.
Should I change my diet or exercise because of my rs1333037 result?
You should maintain a heart-healthy lifestyle regardless of your genetic results. Recommendations for diet and exercise are based on clinical markers like blood pressure and cholesterol levels, which are much more informative for your current health than a single SNP.
Where does the data for this SNP come from?
The data is compiled from Genome-Wide Association Studies (GWAS) and population databases like gnomAD and the GWAS Catalog. These platforms aggregate data from thousands of participants to identify statistical links between genetic variants and traits.
Can a doctor use this SNP to diagnose heart disease?
No, rs1333037 is not used as a diagnostic tool for heart disease in clinical practice. Diagnosis is based on clinical exams, blood tests, and imaging, not on a single genetic variant.
Sources & further reading
Educational information only, last refreshed 9/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1333037?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in CDKN2B-AS1
This variant in the CDKN2B-AS1 locus is associated with extreme human longevity and correlates with proteomic signatures that suggest genetic regulation of GDF15 and molecular aging rates.
This variant in the CDKN2B-AS1 long noncoding RNA gene is associated with extreme longevity in genome-wide association studies.
A non-coding variant in the CDKN2B-AS1 locus associated with human longevity and survival beyond 90 years of age.
Non-coding RNA locus SNP associated with endometriosis development through altered regulation of cell cycle progression and local tissue remodeling.
This variant is a well-established risk locus for coronary artery disease and related cardiovascular conditions.
Located in the non-coding CDKN2B-AS1 locus, this variant confers significant risk for normal-tension and primary open-angle glaucoma.