SLCO1B1 rs4149080: Understanding Genetic Variation and Statin Response
The rs4149080 variant is a genetic marker located within the SLCO1B1 gene, which encodes a protein responsible for transporting medications into the liver. This variant is associated with the SLCO1B1*14 haplotype and has been studied for its potential influence on how the body processes statin medications.
What each genotype means
Normal transporter activity
This genotype is associated with the SLCO1B1*14 haplotype, which involves the p.Gly488Ala substitution. Research into this specific variant is limited, and it is not currently considered a primary driver of statin-induced myopathy compared to other well-studied SLCO1B1 variants. Please discuss any concerns regarding medication dosing or potential side effects with your clinician or pharmacist.
This genotype is common in many populations, though exact frequencies vary by ancestral background.
Normal transporter activity
This genotype represents a heterozygous state for the SLCO1B1*14 haplotype. Current evidence regarding the clinical impact of this specific variant on drug transport is limited, and it is not typically used to guide routine clinical decision-making for statin therapy. You should consult with your healthcare provider or pharmacist regarding any questions about your medication regimen.
This genotype is found at moderate frequencies across diverse global populations.
Normal transporter activity
This genotype indicates the presence of the variant allele associated with the SLCO1B1*14 haplotype. There is limited evidence suggesting this variant significantly alters hepatic uptake transporter activity or clinical outcomes for statin users. Always consult your pharmacist or physician before making changes to your prescribed medications.
This genotype is observed in a small percentage of the population, with a minor allele frequency typically ranging between 0.02 and 0.05 in European and American cohorts.
What is rs4149080?
The rs4149080 variant is a single nucleotide polymorphism (SNP) situated within the SLCO1B1 gene on chromosome 12. In genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is often discussed in the context of the SLCO1B1*14 haplotype, which is a specific combination of genetic markers inherited together. While many people focus on other variants in this gene, such as rs4149056, rs4149080 serves as an important marker for researchers studying the genetic architecture of the SLCO1B1 locus. It is located in an intronic region, meaning it does not directly change the protein sequence itself, but it may influence how the gene is regulated or expressed. Understanding these markers helps scientists map out the complex variations that exist within the human genome.
The Role of the SLCO1B1 Gene
The SLCO1B1 gene provides instructions for making a protein called organic anion transporting polypeptide 1B1 (OATP1B1). This protein acts as a gatekeeper in the liver, facilitating the uptake of various substances from the blood into liver cells, including bile acids, hormones, and many medications, such as statins used to lower cholesterol. When the function of this transporter is altered, it can change the concentration of these substances in the bloodstream. Because statins rely on this transporter to reach their site of action in the liver, genetic variations that affect OATP1B1 activity are of significant interest in pharmacogenomics. By studying how different versions of this gene function, researchers aim to better understand why individuals may respond differently to the same dose of a medication.
Research and Evidence Strength
The evidence linking rs4149080 to clinical outcomes is currently considered limited. While some studies have explored its association with statin pharmacokinetics and lipid-lowering efficacy, the findings are not as robust as those for other, more well-characterized variants in the same gene. For instance, while rs4149056 is widely recognized for its strong association with statin-associated muscle symptoms, the role of rs4149080 is less clear. Some research has suggested that it may be part of haplotypes that influence transporter activity, but it is often studied alongside other markers rather than in isolation. Because the scientific community requires consistent, large-scale replication to establish strong clinical associations, the current understanding of rs4149080 remains an area of ongoing investigation rather than a standard clinical diagnostic tool.
Population Frequency
Genetic variation in the SLCO1B1 gene is common, but the frequency of specific alleles can vary significantly across different ancestral populations. For the rs4149080 variant, the minor allele frequency is typically observed in the range of 0.02 to 0.05 in European and American populations. This means that a small but notable percentage of individuals carry this specific genetic marker. Because these frequencies differ globally, researchers must account for ancestry when conducting studies to ensure that findings are accurate and applicable to diverse groups. Large-scale databases like gnomAD provide essential data on these frequencies, helping scientists understand the distribution of genetic diversity across the human population.
What This Information Means for You
It is important to understand that having a specific genotype for rs4149080 does not provide a definitive prediction of how you will respond to any medication. Pharmacogenomics is a complex field where many factors—including other genes, diet, age, and concurrent medications—interact to influence drug response. This information is intended for educational purposes and should not be used to make personal health decisions or to interpret your own medical risk. If you are concerned about how a medication is affecting you, or if you are interested in how your genetics might influence your treatment plan, the best course of action is to consult with your healthcare provider or a pharmacist. They can provide personalized guidance based on your full medical history and current clinical guidelines.
How common is this variant?
The minor allele frequency for rs4149080 is approximately 0.02 to 0.05 in European and American populations, indicating it is a relatively uncommon but well-documented variant.
Frequently asked questions
Is rs4149080 used to predict statin side effects?
Currently, rs4149080 is not a primary marker used in clinical practice to predict statin side effects. Other variants, such as rs4149056, have much stronger evidence linking them to muscle-related symptoms.
Should I get tested for SLCO1B1 variants?
Genetic testing for SLCO1B1 is generally reserved for specific clinical scenarios determined by your doctor. You should discuss the necessity of any pharmacogenetic testing with your healthcare provider to see if it is appropriate for your specific health needs.
Does this variant mean I cannot take statins?
No, having a specific genotype for this variant does not mean you cannot take statins. Many people with various genotypes successfully take statins, and dosing is typically managed by your physician based on your cholesterol levels and overall health.
Where can I find more information on SLCO1B1?
You can find reliable information on the SLCO1B1 gene and its clinical implications through resources like MedlinePlus Genetics, the PharmGKB database, and the Clinical Pharmacogenomics Implementation Consortium (CPIC) guidelines.
Sources & further reading
Educational information only, last refreshed 9/18/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This missense variant (p.Pro155Thr) is associated with reduced OATP1B1 transporter function, which can lead to increased plasma concentrations of certain statins and higher risk of myopathy.
A regulatory variant in the SLCO1B1 gene influencing statin pharmacokinetics.
Defines the c.388A>G (p.Asn130Asp) variant, which is a component of the SLCO1B1*1B and *15 haplotypes, influencing hepatic statin uptake.
Non-synonymous coding polymorphism (p.Asn130Asp) defining the SLCO1B1*30 allele with modest alteration in hepatic statin uptake.
This variant (c.521T>C) is strongly associated with decreased function of the OATP1B1 transporter, significantly increasing the risk of statin-induced myopathy.
Known as SLCO1B1*1b (p.Asn130Asp), this variant alters hepatic transporter activity and modulates statin exposure and pharmacokinetic clearance.