LDLR rs17249057: Understanding Your Genetic Variant
The rs17249057 variant is a genetic change located within the LDLR gene, which provides instructions for the low-density lipoprotein receptor. This specific variant is associated with variations in how individuals may respond to statin therapy, particularly in East Asian populations.
What each genotype means
Typical LDLR 3' UTR profile
This genotype represents the common sequence in the 3' UTR region of the LDLR gene. Research indicates that variants in this region, including those in linkage disequilibrium with rs17249057, may influence how individuals respond to statin therapy. Please discuss your lipid-lowering treatment plan and potential medication response with your clinician or pharmacist.
This is a common genotype, though exact frequencies vary significantly by ancestral background.
Variant LDLR 3' UTR profile
You carry one copy of the variant allele at this position in the LDLR gene. This variant is known to be in linkage disequilibrium with other markers in the 3' UTR that have been associated with variable outcomes in statin therapy. Because the evidence for this specific variant's clinical impact is limited, please consult your healthcare provider or pharmacist regarding your personal response to cholesterol-lowering medications.
This genotype is observed in various populations, with notable documentation in East Asian cohorts.
Variant LDLR 3' UTR profile
You carry two copies of the variant allele at this position in the LDLR gene. This region is associated with the regulation of the LDL receptor, and research suggests that variants here may influence the efficacy of statin treatments. As the clinical evidence remains limited, please discuss your specific medication response and cardiovascular management with your clinician or pharmacist.
This genotype is less common than the homozygous reference state and varies in frequency across different global populations.
What is rs17249057?
The rs17249057 variant is a single nucleotide polymorphism (SNP) located in the 3' untranslated region (UTR) of the LDLR gene. The 3' UTR is a segment of DNA that does not code for protein but plays a critical role in regulating gene expression, such as determining how much protein is produced from the gene's instructions. Because this variant sits in a regulatory region, it is thought to influence the stability or translation of the LDLR messenger RNA. In genetic research, rs17249057 is often studied alongside other variants in the same region because they are inherited together in a pattern known as linkage disequilibrium. This means that when researchers observe an effect associated with this SNP, it may be due to the variant itself or other nearby genetic changes that are consistently inherited with it.
The Role of the LDLR Gene
The LDLR gene is essential for maintaining healthy cholesterol levels in the blood. It encodes the low-density lipoprotein receptor, a protein that sits on the surface of cells, particularly in the liver. These receptors act like docking stations, binding to low-density lipoprotein (LDL) particles—often called 'bad' cholesterol—and removing them from the bloodstream to be broken down inside the cell. When the LDLR gene functions correctly, it helps keep blood cholesterol levels within a normal range. Mutations or variations that disrupt the production or function of this receptor can lead to elevated LDL cholesterol, which is a primary driver of atherosclerosis and cardiovascular disease. Understanding how variants like rs17249057 influence this process is a key area of research in pharmacogenomics, as it helps scientists understand why people respond differently to cholesterol-lowering medications.
Research and Evidence Strength
The evidence linking rs17249057 to clinical outcomes is currently classified as limited. While some studies suggest that this variant is associated with differences in how patients respond to statin therapy, the findings are not yet robust enough to guide routine clinical decision-making. Much of the existing research has focused on East Asian cohorts, where the variant is well-documented. Because the evidence is limited and potentially ancestry-specific, it is important to interpret these findings with caution. The scientific community continues to investigate whether this variant directly impacts statin efficacy or if it serves as a marker for other underlying genetic factors. As with any pharmacogenomic marker, the presence of this variant does not provide a definitive prediction of how a specific individual will respond to a medication, and it should not be used to make independent medical decisions.
What You Can Do With This Information
If you have received information about your rs17249057 genotype, it is important to understand that this is just one small piece of a very complex biological puzzle. Genetic variants are not diagnostic tools; they are statistical associations that describe trends across large groups of people, not individual outcomes. You cannot use this information to diagnose a condition or to change your medication regimen on your own. If you are concerned about your cholesterol levels or how you are responding to a statin, the most important step is to have a conversation with your healthcare provider or a pharmacist. They can interpret your genetic results in the context of your overall health, medical history, and other lifestyle factors. Always consult with a clinician before making any changes to your prescribed treatments, as they are best equipped to provide personalized medical guidance.
How common is this variant?
The frequency of the rs17249057 variant varies significantly across different ancestral groups and is particularly well-documented in East Asian cohorts.
Frequently asked questions
Does having the rs17249057 variant mean I have high cholesterol?
No, this variant is not a diagnostic test for high cholesterol. It is a genetic marker associated with how some people may respond to medication, not a direct cause of cholesterol levels.
Should I stop taking my statin if I have this variant?
Absolutely not. You should never stop or change your medication without consulting your doctor, as doing so could increase your risk of cardiovascular events.
Is this variant linked to familial hypercholesterolemia?
While the LDLR gene is the primary gene associated with familial hypercholesterolemia, rs17249057 is a common variant and is not typically classified as a pathogenic mutation that causes the condition.
How can I find out if I have this variant?
This variant may be included in some direct-to-consumer genetic tests or clinical pharmacogenomic panels. If you have results, discuss them with your healthcare provider to understand their relevance to your health.
Sources & further reading
Educational information only, last refreshed 9/29/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A variant in the 3' UTR of the LDLR gene that significantly influences rosuvastatin efficacy in patients.
Synonymous exon 12 variant (p.Asn591Asn) modifying low-density lipoprotein receptor exon splicing efficiency and predisposing carriers to elevated plasma LDL cholesterol.
This variant is associated with levels of low-density lipoprotein (LDL) cholesterol in the blood.
Familial hypercholesterolemia pathogenic missense variant in the LDL receptor gene causing severe premature cardiovascular risk.
Pathogenic missense/in-frame mutation in LDLR associated with autosomal dominant familial hypercholesterolemia and impaired LDL clearance.
Pathogenic LDLR missense variant causing functional impairment of the low-density lipoprotein receptor and familial hypercholesterolemia.