DPYS rs36027551: Understanding This Rare Genetic Variant
The rs36027551 variant is a rare genetic change located within the DPYS gene, which encodes the enzyme dihydropyrimidinase. Researchers are investigating whether this variant, along with others in the same gene, may influence how individuals process fluoropyrimidine-based chemotherapy drugs.
What each genotype means
Typical enzyme activity
This is the most common genotype for this variant. Research does not suggest that this specific genetic makeup significantly alters the way your body processes fluoropyrimidine medications compared to the general population. Always discuss your medication plan and any concerns about potential side effects with your clinician or pharmacist.
This is the most common genotype found across all major global populations.
Potential for altered metabolism
This genotype includes one copy of the rare variant (p.Arg181Trp). While some research into the DPYS gene suggests that rare variants may be associated with an increased risk of fluoropyrimidine-induced toxicity, the evidence for this specific variant remains inconclusive. You should discuss this finding with your healthcare provider to determine if it is relevant to your specific treatment plan.
This genotype is rare, occurring in a very small percentage of the population.
Rare variant carrier
This genotype indicates that both copies of the gene carry the rare variant. Because the DPYS gene is involved in the breakdown of pyrimidines and related drugs, carrying two copies of a rare variant may warrant clinical caution regarding fluoropyrimidine therapy. Please consult with your oncologist or a pharmacist to review your medication options, as current evidence is limited and requires professional clinical interpretation.
This genotype is extremely rare in the general population.
What is the rs36027551 Variant?
The rs36027551 variant is a specific change in the DNA sequence of the DPYS gene. In genetics, a single nucleotide polymorphism (SNP) like this represents a variation at a single position in the genome. This particular variant is classified as a coding variant, meaning it results in a change to the amino acid sequence of the protein produced by the gene, specifically identified as p.Arg181Trp. Because it is a rare variant, it is not found in the majority of the population. Scientists study such variants to determine if they alter the function of the resulting protein or if they serve as markers for other underlying genetic differences. Understanding the location and nature of this variant is the first step in evaluating its potential impact on human health and drug metabolism.
The Role of the DPYS Gene
The DPYS gene provides the instructions for creating the enzyme dihydropyrimidinase. This enzyme plays a critical role in the body's catabolic pathway, specifically in the second step of breaking down pyrimidines, which are essential building blocks of DNA and RNA. Beyond its role in natural metabolism, dihydropyrimidinase is also involved in the breakdown of fluoropyrimidines, a class of chemotherapy drugs used to treat various cancers. When this enzyme functions normally, it helps the body clear these medications efficiently. If the enzyme's activity is reduced due to genetic variations, it may lead to the accumulation of the drug in the body. This accumulation is a subject of significant interest in pharmacogenomics, as it could potentially increase the risk of adverse side effects during cancer treatment.
Research and Clinical Evidence
Current research into rs36027551 and the broader DPYS gene is focused on its association with fluoropyrimidine-induced toxicity. While well-established variants in the DPYD gene are known to cause severe toxicity, the role of DPYS is an emerging area of study. Some studies have suggested that a burden of rare variants in the DPYS gene may be associated with an increased risk of severe toxicity in patients receiving fluoropyrimidine-based regimens. However, the evidence for rs36027551 specifically remains inconclusive. It is important to note that scientific findings in this field are often based on statistical associations in specific patient cohorts, and these results do not always translate directly to individual clinical outcomes. Further large-scale research is required to determine the clinical significance of this specific variant.
Population Frequency
The rs36027551 variant is considered rare across global populations. In genetic studies, rare variants are those that appear at a very low frequency in the general population, often making them difficult to study without large sample sizes. Because of its rarity, most individuals will carry the common, or reference, version of the gene at this position. The distribution of such rare variants can also vary significantly between different ancestral groups. Current genomic databases continue to collect data to better map the frequency of this variant, which helps researchers understand its prevalence and potential impact across diverse human populations.
What This Information Means for You
If you have received information about your status for the rs36027551 variant, it is essential to interpret it within the context of your overall health and medical history. This variant is currently a subject of research and is not typically used as a standalone diagnostic tool for clinical decision-making. Genetic information can be complex, and the presence of a variant does not guarantee a specific health outcome or drug response. If you are scheduled to undergo chemotherapy or have concerns about how your body processes medications, you should discuss this with your oncologist or a clinical pharmacist. They are the best resources to help you understand how your genetic profile might influence your treatment plan and to ensure that your care is personalized to your specific needs.
How common is this variant?
The rs36027551 variant is classified as rare, with a low frequency observed across most global populations in genomic databases.
Frequently asked questions
Is rs36027551 a cause of chemotherapy toxicity?
The evidence linking rs36027551 to chemotherapy toxicity is currently inconclusive. While some research suggests that rare variants in the DPYS gene may contribute to toxicity, more studies are needed to confirm the role of this specific variant.
Should I get tested for DPYS variants?
Routine testing for DPYS variants is not currently standard clinical practice. You should discuss any concerns about your genetic risk for drug side effects with your healthcare provider, who can determine if testing is appropriate for your specific situation.
What is the difference between DPYD and DPYS?
DPYD and DPYS are both genes involved in the breakdown of pyrimidines and fluoropyrimidine drugs. DPYD is the primary gene associated with severe toxicity, while DPYS is a related gene that researchers are currently investigating for its potential secondary role.
Can I change my genotype?
No, your genotype is determined by the DNA you inherit from your parents and cannot be changed. However, knowing your genetic information can help your medical team make more informed decisions about your healthcare.
Sources & further reading
Educational information only, last refreshed 9/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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