CD33 rs2455069: What Your Genotype Means for AML Therapy
The rs2455069 variant is a single-nucleotide polymorphism located within the CD33 gene. Research suggests this variant may influence the levels of CD33 protein on the surface of cells, which is relevant to the efficacy of the leukemia medication gemtuzumab ozogamicin.
What each genotype means
Typical CD33 expression profile
This genotype represents the common variant for this position in the CD33 gene. Research into CD33 variants often focuses on how genetic differences influence the binding of targeted therapies like gemtuzumab ozogamicin, and you should discuss any relevant medication dosing or treatment plans with your clinician or pharmacist.
This genotype is common in many global populations.
Intermediate CD33 expression profile
Carrying one copy of the G allele may influence the expression or splicing patterns of the CD33 protein. Because CD33 variants can affect how certain leukemia treatments bind to cells, please consult with your healthcare provider or pharmacist regarding how your specific genetic profile might relate to therapeutic options.
This heterozygous genotype is frequently observed across diverse ancestral groups.
Alternative CD33 expression profile
This genotype is associated with variations in the CD33 gene that may alter the structure or surface expression of the CD33 protein. Since these changes can impact the efficacy of CD33-targeted therapies, it is important to discuss your genetic results with your clinician or pharmacist when considering treatment strategies.
This genotype is found in a significant portion of the population, though frequencies vary by ancestry.
Understanding the rs2455069 Variant
The rs2455069 variant is a specific change in the DNA sequence of the CD33 gene, often referred to as an A>G substitution or an Arg69Gly amino acid change. A single-nucleotide polymorphism (SNP) like this represents a variation at a single position in the genome. In the case of rs2455069, individuals may carry different versions of this genetic "letter"—either an adenine (A) or a guanine (G). Because we inherit two copies of every gene, one from each parent, individuals can have different combinations of these letters. Scientists study these variations to understand how they might alter the structure or function of the resulting protein, or how they might influence the body's response to specific medical treatments. This particular variant is located in a region of the gene that can affect how the CD33 protein is processed and displayed on the surface of myeloid cells.
The Role of the CD33 Gene
The CD33 gene provides instructions for making a protein that acts as a receptor on the surface of certain immune cells, particularly those in the myeloid lineage. These cells include monocytes and granulocytes, which are types of white blood cells. CD33 is also frequently found on the surface of leukemic blasts in patients with acute myeloid leukemia (AML). The protein functions as a sialic acid-binding receptor, which helps regulate immune cell activity. In the context of cancer treatment, CD33 serves as a target for specific therapies. Gemtuzumab ozogamicin is a drug designed to bind to the CD33 protein on the surface of leukemia cells, delivering a toxic payload to kill the cancer cells. Because the drug relies on the presence of CD33 to identify and attack these cells, the amount of CD33 protein expressed on the cell surface is a critical factor in how well the treatment works.
Research and Clinical Associations
Scientific research has investigated whether the rs2455069 variant influences the clinical outcomes of patients treated with gemtuzumab ozogamicin. Studies have observed that this SNP, along with others in the CD33 gene, is associated with variations in the density of CD33 protein on the surface of leukemic cells. Some evidence suggests that certain genotypes may be linked to higher or lower levels of this protein, which in turn could affect how effectively the medication binds to and destroys the cancer cells. However, the evidence regarding the direct impact of rs2455069 on clinical survival outcomes is considered limited and is often studied as part of a broader 'genotype score' rather than in isolation. Furthermore, some research has explored potential links between this variant and other conditions, such as Alzheimer's disease, though these findings are preliminary and require further validation in larger, diverse populations.
Population Frequency and Variability
The rs2455069 variant is considered a common polymorphism, meaning it is found at significant frequencies across many different human populations. Genetic studies indicate that the distribution of the A and G alleles can vary between different ancestral groups. Because it is common, many individuals carry at least one copy of the variant allele. It is important to note that genetic associations observed in one population, such as a specific cohort of pediatric AML patients, may not necessarily apply to all other groups. The frequency of these genotypes is a standard feature of human genetic diversity, and researchers continue to map these patterns to better understand how genetic background influences health and treatment responses globally.
What This Information Means for You
If you are interested in your genetic profile regarding rs2455069, it is essential to understand that this information is for educational purposes only. Genetic variants are just one piece of a very complex puzzle that determines how a person responds to medication. Factors such as overall health, the specific characteristics of a disease, and other genetic or environmental influences play significant roles. You should never use genetic information to make decisions about your medical care or to interpret your risk for a disease without professional guidance. If you or a loved one are undergoing treatment for leukemia or are concerned about pharmacogenomics, please discuss these topics with your oncologist or a clinical pharmacist. They are the best resources to help you understand how your specific genetic information might—or might not—be relevant to your personalized treatment plan.
How common is this variant?
The rs2455069 variant is common in many populations, with the A and G alleles appearing at varying frequencies across different ancestral groups.
Frequently asked questions
Is rs2455069 a diagnostic test for leukemia?
No, rs2455069 is not a diagnostic test for leukemia. It is a genetic variant studied for its potential to influence how well certain treatments, like gemtuzumab ozogamicin, work in patients who have already been diagnosed with AML.
Can I use my genotype to predict my response to chemotherapy?
Genetic variants are only one factor in treatment response. You should not use this information to predict your response to chemotherapy; always consult your oncology team for clinical guidance.
Does the rs2455069 variant cause Alzheimer's disease?
Some preliminary research has explored a potential association between this variant and Alzheimer's disease, but it is not considered a cause of the disease. These findings are early-stage and require more research to confirm.
Where can I find more information about CD33 pharmacogenomics?
You can find reliable information through resources like the Pharmacogenomics Knowledgebase (PharmGKB) or by searching for peer-reviewed studies on PubMed. Always prioritize information from established medical and scientific institutions.
Sources & further reading
Educational information only, last refreshed 10/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant in the CD33 gene is associated with altered CD33 protein expression and efficacy of the leukemia drug gemtuzumab ozogamicin.
This variant influences CD33 expression and splicing in microglia, modulating the risk of developing Alzheimer's disease.
This variant in CD33 exon 2 modulates mRNA splicing, influencing the expression of a truncated isoform that is associated with both altered risk of Alzheimer's disease and clinical outcomes in AML patients treated with gemtuzumab-ozogamicin.