KALRN rs9289231: Understanding This Genetic Variant
The rs9289231 variant is a single nucleotide polymorphism located within the KALRN gene on chromosome 3. Research has investigated its potential statistical association with early-onset coronary artery disease and cardiovascular biomarkers.
What each genotype means
Common genetic variant
This genotype represents the most common form of this variant observed in many populations. Research into this specific location has explored its potential role in gene regulation, though it is not currently linked to a specific clinical condition. Please note that this information is for educational purposes and does not constitute medical advice.
This genotype is frequently observed in global populations, reflecting the common nature of this variant.
Common genetic variant
Carrying one copy of each allele is a standard variation found in many individuals. Current scientific literature does not associate this specific combination with any known health outcomes or clinical traits. You should view this as a normal variation in your genetic code.
This heterozygous genotype is common across diverse ancestral groups.
Common genetic variant
This genotype is a documented variation at this position in the genome. There is no established evidence linking this specific genotype to any disease or clinical phenotype in current research databases. It is considered a common, benign variation.
This genotype is found at a significant frequency in the general population.
What is rs9289231?
The rs9289231 variant is a specific change in the DNA sequence, technically identified as a single nucleotide polymorphism (SNP). It is located on chromosome 3 at position 124,055,231 (GRCh38). In this variant, the DNA base can be either a thymine (T) or a guanine (G). This SNP is situated within the KALRN gene, which provides instructions for making a protein called kalirin. Kalirin is primarily known for its role in the nervous system, where it helps regulate the structure and function of synapses, the junctions between nerve cells. Because it is located within a gene, researchers often study whether this specific change might influence how the kalirin protein is produced or how it functions in different tissues throughout the body.
Research and Cardiovascular Associations
Scientific interest in rs9289231 has largely centered on its potential link to cardiovascular health. Some published studies have observed a statistical association between the G allele of this variant and an increased risk of early-onset coronary artery disease. Researchers have also explored whether this variant correlates with markers of atherosclerosis, which is the buildup of fats and cholesterol in the artery walls. It is important to note that while these associations have been reported in specific study cohorts, the evidence is considered moderate. Genetic associations are complex, and many factors—including other genetic variants, lifestyle, and environmental influences—contribute to the development of heart disease. The presence of this variant does not mean an individual will develop a condition, nor does its absence guarantee protection.
Population Frequency
The rs9289231 variant is considered a common polymorphism in human populations. Data from large-scale genomic databases indicate that the variant is widely distributed across different ancestral groups. Because it is common, many individuals carry at least one copy of the G or T allele. Frequency can vary slightly depending on the specific population being studied, but it is not considered a rare mutation. Understanding that this variant is common helps researchers place its potential health associations into context, as common variants often have smaller individual effects on complex traits compared to rare, high-impact mutations. Genomic studies continue to refine these frequency estimates as more diverse populations are included in global research efforts.
Interpreting Genetic Information
When learning about variants like rs9289231, it is essential to understand the difference between a statistical association and a medical diagnosis. A genetic association found in a research study describes a trend observed across a large group of people; it cannot predict the health outcome for any single individual. You cannot use this information to diagnose yourself or to predict your future health. If you have concerns about your cardiovascular health or your family history, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your overall health profile, including lifestyle factors and clinical test results, which are far more predictive of health outcomes than any single genetic variant.
How common is this variant?
The rs9289231 variant is a common polymorphism found across diverse human populations, with the G allele appearing at a frequency of approximately 14% in some large-scale datasets.
Frequently asked questions
Does having the G allele mean I will get heart disease?
No. A genetic association is not a diagnosis. Many factors, including diet, exercise, smoking, and other genetic markers, play a much larger role in heart health than any single variant.
Should I get tested for rs9289231?
There is no clinical recommendation to test for this specific variant. Genetic testing for complex traits is generally not used for routine medical screening because it does not provide actionable diagnostic information.
What is the function of the KALRN gene?
The KALRN gene encodes the protein kalirin. It is primarily involved in the development and maintenance of synapses in the brain, though researchers are investigating its potential roles in other tissues.
Where can I find more information about this SNP?
You can look up rs9289231 in public databases like the NCBI SNP database or the GWAS Catalog. These resources provide technical details and links to the original research papers.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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