ABCG2 rs2231137: What Your Genotype Means
The rs2231137 variant is a common genetic change located in the ABCG2 gene, which provides instructions for making a protein that transports various substances across cell membranes. Research has investigated its potential role in how the body processes certain medications and its association with various health traits.
What each genotype means
Common variant profile
This genotype represents the most common form of this variant in many populations. Research has observed a slightly higher statistical association with ischemic stroke risk in some studies compared to those carrying the T allele. Please discuss any concerns regarding cardiovascular health or medication management with your clinician.
This is the most common genotype observed in many global populations.
Reduced stroke risk association
Carriers of this genotype have one copy of the less common allele. Some studies have associated this genotype with a slightly lower statistical risk of ischemic stroke compared to the C/C genotype. As this evidence is limited, please consult with your healthcare provider regarding your overall health profile.
This genotype is found at moderate frequencies across various ancestral groups.
Reduced stroke risk association
Individuals with this genotype carry two copies of the less common allele. Similar to the C/T genotype, some research suggests a slightly lower statistical association with ischemic stroke risk. Because these findings are based on limited evidence, they should not be used to guide medical decisions without professional clinical advice.
This genotype is less common than the C/C genotype in most studied populations.
Understanding the rs2231137 Variant
The rs2231137 variant is a single nucleotide polymorphism (SNP) found within the ABCG2 gene. In genetic terms, this means a single building block of DNA at a specific position has been substituted. This particular variant is often referred to as Val12Met, reflecting the change in the amino acid sequence of the resulting protein. Because it is located in a region that can influence gene regulation or protein structure, scientists study it to understand how it might affect the function of the ABCG2 protein. Unlike rare mutations that might cause severe disease, rs2231137 is considered a common variant, meaning it is frequently found in the general population across many different ancestral groups.
The Role of the ABCG2 Gene
The ABCG2 gene encodes the Breast Cancer Resistance Protein (BCRP), which acts as a biological pump. This transporter protein is found in many tissues, including the liver, kidneys, and intestines, where it helps move molecules out of cells. By pumping substances out of cells, the ABCG2 protein plays a critical role in protecting the body from toxins and regulating the levels of various compounds, including urate and certain medications. Because of its broad role in moving substances, variations in the ABCG2 gene can potentially alter how efficiently these molecules are transported. This makes the gene a significant subject of study in pharmacogenomics, the field that examines how genetic differences influence an individual's response to drug therapies.
Research and Clinical Associations
Scientific research has explored the association between rs2231137 and various clinical outcomes, though the evidence remains mixed or limited in many areas. Some studies have suggested that this variant may influence the pharmacokinetics—how the body absorbs and clears—of specific drugs like rosuvastatin and imatinib. Other research has looked into its potential link to conditions like gout or ischemic stroke, with some studies reporting statistical associations in specific populations. However, it is important to note that these findings are often context-dependent and may not apply universally. While some in vitro studies suggest the variant does not significantly change protein expression levels, the exact mechanisms behind its observed clinical associations are still being actively researched. As with all pharmacogenomic markers, these associations are statistical in nature and do not predict an individual's specific health outcome.
Interpreting Your Genetic Information
If you have information about your rs2231137 genotype, it is essential to view it within the context of your overall health and medical history. Genetic variants are only one piece of a complex puzzle that includes your environment, lifestyle, and other genetic factors. You cannot use this information to diagnose yourself or make decisions about your medications. If you are concerned about how a specific drug might affect you, or if you are interested in how your genetics might influence your treatment plan, you should discuss this with your clinician or pharmacist. They are the best resources to help you interpret genetic data in a way that is relevant to your personal medical care and to ensure that any adjustments to your treatment are safe and evidence-based.
How common is this variant?
The frequency of the minor allele for rs2231137 varies significantly by ancestry, with reported frequencies of approximately 0.35 in East Asian cohorts and lower frequencies in European populations.
Frequently asked questions
Is rs2231137 a cause of disease?
No, rs2231137 is a common genetic variant, not a disease-causing mutation. While it has been statistically associated with variations in drug response or health traits in some studies, it does not directly cause disease on its own.
Should I change my medication based on my rs2231137 result?
Absolutely not. You should never change your medication or dosage based on genetic test results without consulting your doctor. Only a healthcare professional can determine if a medication adjustment is appropriate for your specific health needs.
Why do different studies show different results for this SNP?
Genetic associations can vary due to differences in study design, the populations being studied, and the influence of other genes or environmental factors. This is why evidence for many variants is considered limited or mixed.
Where can I find more information about ABCG2?
You can find reliable information about the ABCG2 gene and its role in the body through resources like MedlinePlus Genetics or the PharmGKB database. These sites provide educational summaries grounded in current scientific research.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Regulatory variant in ABCG2 associated with altered transporter expression, influencing uric acid levels and statin pharmacokinetics.
A premature stop codon polymorphism (p.Gln126Ter) in ABCG2 that causes non-functional transporter activity, increasing rosuvastatin plasma concentrations.
A major genetic driver of high uric acid and risk of gout.