SLC16A11 rs11558471: What Your Genotype Means
The rs11558471 variant is a genetic marker located within the SLC16A11 gene. It is part of an archaic haplotype associated with an increased risk of developing type 2 diabetes, particularly in individuals of Latino and Native American ancestry.
What each genotype means
Typical risk profile
This genotype represents the common, non-risk version of the SLC16A11 gene. Research indicates that individuals with this genotype do not carry the specific archaic haplotype associated with altered hepatic lipid transport and increased type 2 diabetes risk.
This is the most common genotype in European populations, where the risk allele is rare.
Increased diabetes risk
Carrying one copy of this variant is associated with a modest increase in the risk of developing type 2 diabetes. This variant is part of an archaic introgressed haplotype that may affect how the liver processes lipids, though the clinical impact is typically lower than in those with two copies.
This genotype is frequently observed in individuals of Mexican and Latin American ancestry, reflecting the higher prevalence of this haplotype in these populations.
Elevated diabetes risk
Individuals with two copies of this variant carry the full risk haplotype, which has been linked to decreased SLC16A11 expression in the liver and disrupted lipid metabolism. This genotype is associated with a substantially higher risk for type 2 diabetes, particularly in Latino and Native American populations.
This genotype is most common in populations with significant Native American ancestry, where the risk haplotype is prevalent.
Understanding the Variant and Its Location
The rs11558471 variant is a single nucleotide polymorphism (SNP) situated within the SLC16A11 gene, which is located on chromosome 17. This specific variant is one of several missense changes found on a larger genetic haplotype. Research indicates that this entire haplotype was inherited through ancient interbreeding between modern humans and Neanderthals. Because these variants are physically close together on the chromosome, they are often inherited as a single block. This means that individuals who carry rs11558471 often carry other associated variants in the same gene, which together influence the function of the SLC16A11 protein. Scientists use this SNP as a marker to track the presence of this specific ancestral genetic sequence in modern populations.
The Role of the SLC16A11 Gene
The SLC16A11 gene provides instructions for creating a protein known as a proton-coupled monocarboxylate transporter. This protein is primarily expressed in the liver, where it plays a role in the transport of molecules across cell membranes. Research suggests that the protein helps regulate lipid metabolism, specifically influencing the levels of triacylglycerols and other fats within liver cells. When the function of this transporter is disrupted, it can lead to changes in how the liver processes fats, which may contribute to metabolic imbalances. Studies using both human liver cells and animal models have shown that reduced activity of this transporter is linked to altered lipid profiles, which are known factors in the development of insulin resistance and type 2 diabetes.
Research and Evidence Strength
The association between the SLC16A11 risk haplotype and type 2 diabetes was identified through large-scale genome-wide association studies (GWAS) focusing on Mexican and Latin American populations. The evidence suggests that each copy of this risk haplotype is associated with approximately a 20% increase in the risk of developing type 2 diabetes. While the statistical association is strong and replicated across multiple studies, the evidence is considered specific to certain ancestries. The biological mechanism involves two primary effects: a decrease in the expression of the SLC16A11 gene in the liver and a disruption of the protein's ability to interact with other cellular components, such as basigin. These combined effects reduce the overall activity of the transporter. It is important to note that while this variant is a significant risk factor, type 2 diabetes is a complex condition influenced by many genetic and environmental factors.
Population Frequency
The frequency of the rs11558471 risk variant varies significantly across different global populations. It is most common in individuals with Native American ancestry, where the risk haplotype can reach frequencies of approximately 50%. In Mexican and Latino populations, the minor allele frequency is observed to be as high as 0.30. Conversely, the variant is rare in populations of European and African descent, with frequencies typically reported at under 0.02. This distribution reflects the history of the variant's introgression into human populations and subsequent migration patterns. Because the variant is so rare in some groups, its impact on diabetes risk is primarily studied and relevant within the context of populations where the haplotype is prevalent.
What This Information Means for You
Knowing your genotype for rs11558471 provides insight into your genetic predisposition, but it does not determine your health outcomes. Genetic risk is only one piece of a much larger puzzle that includes diet, physical activity, and other lifestyle factors. If you are concerned about your risk for type 2 diabetes, the most effective approach is to consult with a healthcare professional. They can evaluate your overall health, family history, and clinical markers to provide personalized guidance. Never use genetic information to make medical decisions or change your health habits without professional medical advice. If you have questions about how your genetic background might influence your health, a genetic counselor or your primary care physician can help you interpret these results in the context of your total health profile.
How common is this variant?
The risk variant is common in Native American and Latino populations, with frequencies up to 0.30, but is rare in European and African cohorts at less than 0.02.
Frequently asked questions
Does having the rs11558471 variant mean I will get diabetes?
No, having this variant does not mean you will develop type 2 diabetes. It is a risk factor that increases the statistical likelihood of the condition, but many other genetic and lifestyle factors play a much larger role in your actual health.
Can I change my risk associated with SLC16A11?
While you cannot change your genetic code, you can manage your overall risk for type 2 diabetes through healthy lifestyle choices. Maintaining a balanced diet, regular physical activity, and routine health screenings are the best ways to support metabolic health.
Should I get tested for this variant?
Routine testing for this specific variant is not currently recommended for clinical diagnosis. If you are concerned about your diabetes risk, talk to your doctor about standard clinical tests like fasting blood glucose or HbA1c levels.
Is this variant related to other health conditions?
Current research primarily links this variant to type 2 diabetes and lipid metabolism in the liver. There is no established evidence linking this specific SNP to other major health conditions at this time.
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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Coding missense variant in SLC16A11 associated with significantly increased predisposition to type 2 diabetes mellitus, particularly in Latin American and East Asian populations.
Located in the SLC16A11 region, this variant is part of a widely documented haplotype associated with increased risk of type 2 diabetes, particularly in Hispanic and East Asian populations.
Chromosome 19p13 cross-ancestral intronic risk variant strongly associated with laryngeal cancer.
This missense variant alters hepatic lipid and carbohydrate handling and is strongly associated with an increased genetic risk for type 2 diabetes.
Common risk allele associated with impaired lipid metabolism and elevated risk of type 2 diabetes, predominantly in Hispanic and Native American ancestries.