SLC16A11 rs7678262: Type 2 Diabetes Risk and Lipid Traits
Single-nucleotide polymorphism rs7678262 is a genetic variant situated within the SLC16A11 locus on chromosome 17. Research led by the SIGMA consortium has linked this variant and its surrounding haplotype to altered cellular lipid metabolism and an elevated susceptibility to type 2 diabetes. Because this risk haplotype exhibits dramatic frequency differences across ancestral groups, its effects are primarily documented in Mexican, Latin American, and Indigenous American populations.
What each genotype means
Typical metabolic risk profile
This genotype represents the common, non-risk version of the SLC16A11 variant. Research indicates that individuals with this profile do not carry the specific genetic risk factor associated with impaired lipid metabolism and increased type 2 diabetes risk linked to this locus.
This is the most common genotype in populations of European ancestry and is also found in other global populations.
Increased metabolic risk profile
This genotype includes one copy of the risk-associated allele, which has been linked to reduced SLC16A11 function and altered lipid metabolism. Statistical associations suggest that carriers of this allele may have an elevated risk for type 2 diabetes, particularly in individuals of Hispanic or Native American ancestry.
This genotype is common in Latin American and Indigenous American populations, where the risk allele frequency is significantly higher than in other groups.
Elevated metabolic risk profile
This genotype carries two copies of the risk-associated allele, which is associated with decreased SLC16A11 expression and impaired cell-surface localization of the transporter. Research suggests this profile is linked to a higher statistical risk for type 2 diabetes due to its impact on fatty acid and lipid metabolism.
This genotype is found at higher frequencies in Latin American and Indigenous American ancestries, while remaining rare in European populations.
Genomic Context and the SLC16A11 Locus
The single-nucleotide polymorphism rs7678262 is located on the short arm of chromosome 17 (17p13.1) within the genomic neighborhood of the solute carrier family 16 member 11 (SLC16A11) gene. This variant resides in strong linkage disequilibrium with a multi-variant haplotype spanning SLC16A11. In population genomics, variants residing in this block are co-inherited as a distinct ancestral genomic tract. Evolutionary analyses, such as those published by the SIGMA Type 2 Diabetes Consortium in Nature, revealed that this specific haplotype sequence diverged hundreds of thousands of years ago and likely entered the modern human gene pool through archaic admixture with Neanderthals. Because of tight linkage across this 73-kilobase segment, single markers like rs7678262 serve as informative proxies for tracking the broader functional haplotype across population cohorts.
Biological Role of SLC16A11 in Hepatic Lipid Metabolism
The SLC16A11 gene encodes a proton-coupled monocarboxylate transporter that belongs to the major facilitator superfamily. Research published in Cell has demonstrated that SLC16A11 is predominantly expressed in the liver, where it localizes to the cell surface via an interaction with the chaperone protein basigin (CD147), as well as the endoplasmic reticulum. Functional characterizations indicate that variants defining the risk haplotype disrupt this normal physiology through two distinct mechanisms: they reduce overall SLC16A11 expression levels in hepatocytes and weaken its binding interaction with basigin, leading to reduced membrane trafficking. When SLC16A11 activity is diminished or perturbed, hepatocytes exhibit measurable disruptions in lipid handling, including elevated intracellular triacylglycerol accumulation and changes in fatty acid turnover, establishing a cellular link between hepatic transport and metabolic homeostasis.
Epidemiological Research and Strength of Evidence
The scientific association between SLC16A11 variants and type 2 diabetes was firmly established in multi-center genome-wide association studies (GWAS) analyzing Mexican and Latin American cohorts. In these studies, each copy of the risk haplotype was associated with an approximate 20% to 29% increase in the relative odds of developing type 2 diabetes (odds ratio roughly 1.20 to 1.29). Subsequent investigations in non-diabetic adults have also noted modest associations with higher fasting insulin, elevated body mass index (BMI), and subtle shifts in circulating lipid profiles. However, catalog evidence ranks the broader single-marker phenotype strength as limited because the variant is part of a complex polygenic architecture. Furthermore, the association does not translate universally across all global populations due to the rarity of the risk haplotype in cohorts of European and African descent.
Global Distribution and Evolutionary History
The allele frequencies surrounding rs7678262 illustrate significant ancestral variation that explains why this metabolic risk factor was initially overlooked in early European-centric GWAS. The risk haplotype is found at high frequencies throughout the Americas, appearing in roughly 30% to 50% of individuals with high proportions of Native American ancestry and approximately 25% to 30% of Hispanic and Latin American individuals. It is present at moderate frequencies of about 10% in East Asian populations, while remaining exceedingly rare or virtually absent (less than 2%) in individuals of European and African descent. This distinct geographic gradient reflects ancient human migration and introgression patterns, underscoring the critical necessity of studying diverse populations to discover clinically relevant human genetic variation.
What You Can and Cannot Do with This Information
Discovering your genotype at rs7678262 provides statistical insight into your ancestral genetic background and polygenic predisposition, but it is not a medical diagnosis. Genetic variation in SLC16A11 represents only one small factor among hundreds of genetic markers and lifestyle determinants that shape metabolic health. Carrying the risk allele does not mean you are destined to develop type 2 diabetes, nor does a non-risk genotype confer immunity. Clinical diabetes risk assessment relies on standard physiological measures, such as fasting plasma glucose and glycated hemoglobin (HbA1c). Genetic results should never replace regular preventive health screenings, balanced nutrition, and physical activity. Individuals curious about their personal metabolic risk or pharmacotherapy options should discuss their findings with a qualified healthcare provider.
How common is this variant?
The risk allele at rs7678262 is common in Latin American and Indigenous American ancestries (approximately 0.30–0.50 frequency) and moderate in East Asian populations (~0.10), but is rare to absent in European and African ancestries (<0.02).
Frequently asked questions
What is the rs7678262 variant?
The rs7678262 variant is a single-nucleotide polymorphism located in the SLC16A11 gene locus on chromosome 17. It is part of an ancestral haplotype that has been linked to changes in liver lipid transport and elevated susceptibility to type 2 diabetes.
Does having the risk allele mean I will get type 2 diabetes?
No, having the risk allele does not mean you will develop type 2 diabetes. The variant confers a modest increase in relative statistical risk (about 20% per copy), but lifestyle factors like physical activity, diet, and overall health play decisive roles in your actual metabolic outcomes.
Why is this genetic variant more common in Hispanic and Native American individuals?
The haplotype containing rs7678262 entered modern human ancestors through ancient admixture with Neanderthals and was retained at higher frequencies across populations that migrated into the Americas. As a result, the variant is common in Indigenous American and Latin American ancestries but rare in European and African populations.
How does SLC16A11 affect the body's metabolism?
SLC16A11 codes for a monocarboxylate transporter that operates within liver cells. Variants in the risk haplotype decrease the gene's expression and impair its trafficking to the cell surface, which alters hepatic fatty acid handling and increases intracellular triglyceride buildup.
Should I change my diet or medications based on my rs7678262 genotype?
You should not alter your medications, dosing, or nutritional therapy based solely on direct-to-consumer genetic markers. If you are concerned about your blood sugar levels or family history of metabolic conditions, schedule a routine metabolic screening and discuss preventive strategies with your physician.
Sources & further reading
Educational information only, last refreshed 9/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in SLC16A11
A missense variant on an archaic introgressed haplotype that decreases hepatic lipid transport and elevates type 2 diabetes risk, particularly in Latino and Native American populations.
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.