SLC39A8 rs13105400: Understanding This Genetic Variant
The rs13105400 variant is a genetic change located within the SLC39A8 gene, which plays a role in how cells transport essential metals. Research has linked this variant to various physiological traits, including differences in blood pressure, body mass index, and cholesterol levels.
What each genotype means
Common reference genotype
This genotype represents the most common form of the SLC39A8 gene in the general population. Research indicates that individuals with this genotype do not carry the specific missense variant (p.Ala391Thr) associated with altered metal cation transport and various complex traits.
This is the most frequent genotype observed globally, carried by the vast majority of individuals across all ancestral groups.
Heterozygous carrier status
You carry one copy of the variant allele associated with the p.Ala391Thr change in the SLC39A8 protein. Studies have linked this variant to pleiotropic effects, including differences in lipid levels, body mass index, and potential susceptibility to certain inflammatory or psychiatric conditions, though the clinical significance for any one individual remains limited and context-dependent.
Carried by roughly 1 in 7 to 1 in 8 people of European ancestry; it is significantly less common in other global populations.
Homozygous variant status
You carry two copies of the variant allele, which results in the p.Ala391Thr substitution in the SLC39A8 transporter. This genotype has been statistically associated with variations in HDL cholesterol, blood pressure, and body mass index, as well as an increased risk for Crohn's disease and schizophrenia in some research cohorts. These associations are complex and influenced by environmental factors, so please discuss these findings with a healthcare professional to understand their relevance to your personal health history.
This genotype is rare, occurring in approximately 0.5% to 1% of individuals of European ancestry and is extremely rare in non-European populations.
What is rs13105400?
The rs13105400 variant is a single nucleotide polymorphism (SNP) located in the SLC39A8 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This specific variant is categorized as a missense variant, meaning the change in the DNA code results in a different amino acid being incorporated into the protein structure. The SLC39A8 gene provides instructions for creating a protein known as ZIP8, which functions as a transporter on the surface of cells. This transporter is responsible for moving divalent metal ions, such as manganese, zinc, and iron, into the cell. Because these metals are essential for various cellular processes, changes in the structure or function of the ZIP8 protein can potentially influence how cells maintain their internal environment and respond to external signals.
The Role of SLC39A8
The SLC39A8 gene is critical for maintaining metal homeostasis within the body. The ZIP8 protein it encodes acts as a gatekeeper, facilitating the influx of metals like manganese, which is a necessary cofactor for many enzymes. Research indicates that the ZIP8 transporter is expressed in various tissues, including the brain, liver, and the lining of the gut. When the function of this transporter is altered, it can affect the levels of these metals inside cells. While the exact mechanisms are still being studied, scientists believe that the ability of ZIP8 to transport metals is fundamental to cellular health. Disruptions in this process have been investigated in the context of various conditions, ranging from rare congenital disorders of glycosylation to more common complex traits, highlighting the importance of this gene in human physiology.
Research and Associations
Scientific studies have explored the association between SLC39A8 variants and a wide array of human traits. Research has linked variants in this gene to differences in blood pressure, body mass index (BMI), and lipid profiles, such as HDL cholesterol and triglycerides. Some studies have also investigated potential links to neuropsychiatric conditions, including schizophrenia, and inflammatory conditions like Crohn's disease. It is important to note that the evidence for these associations is often described as limited or mixed. Many of these findings come from genome-wide association studies (GWAS), which identify statistical correlations between genetic markers and traits across large populations. These associations do not necessarily imply direct causation, and the biological pathways connecting the variant to these specific health outcomes are still a subject of active investigation. Because these traits are complex and influenced by many genes and environmental factors, the impact of a single variant like rs13105400 is typically small.
Population Frequency
The frequency of the rs13105400 variant varies significantly across different global populations. In European populations, the minor allele frequency is generally observed to be between 0.06 and 0.08. In contrast, the variant is found at much lower frequencies in other ancestral groups. Understanding these frequency differences is a key part of genetic research, as it helps scientists determine whether a variant is common or rare within specific groups. Population databases, such as gnomAD, are essential tools for researchers to track these frequencies and interpret the significance of genetic findings across diverse backgrounds.
Interpreting Your Genetic Information
If you have information about your genotype for rs13105400, it is important to view it within the context of your overall health. Genetic variants are only one piece of a much larger puzzle that includes your lifestyle, environment, and other genetic factors. The associations identified in research studies are statistical observations made at the population level and cannot be used to predict individual health outcomes or diagnose medical conditions. If you are concerned about specific health traits, such as blood pressure or cholesterol levels, the most effective approach is to consult with a healthcare professional. They can provide personalized guidance based on your medical history and clinical testing. Never use genetic information to make changes to your medical care or medication regimen without first discussing it with your doctor or pharmacist.
How common is this variant?
The minor allele frequency for this variant is approximately 0.06-0.08 in European populations, while it is significantly lower in other global populations.
Frequently asked questions
Is rs13105400 a cause of disease?
No, rs13105400 is a genetic variant associated with certain traits in statistical studies. It is not a direct cause of disease, and most people with this variant do not develop the conditions linked to it in research.
Can I use this SNP to predict my health?
No, genetic variants like rs13105400 cannot be used to predict individual health outcomes. Complex traits are influenced by many genes, environmental factors, and lifestyle choices.
Where can I find more information on SLC39A8?
You can find reliable information on the SLC39A8 gene through resources like MedlinePlus Genetics or the NCBI Gene database. These sites provide detailed summaries of gene functions and their roles in human health.
Should I change my diet based on this variant?
You should not change your diet or health habits based on a single genetic variant. Always consult with a healthcare provider or a registered dietitian before making significant changes to your nutrition or health plan.
Sources & further reading
Educational information only, last refreshed 9/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is associated with manganese levels and risk of neurological and inflammatory conditions.
A pleiotropic missense variant (p.Ala391Thr) affecting cellular manganese and zinc transport, linked across GWAS to lipid profiles, blood pressure, and inflammatory bowel disease risk.
Missense variant (p.Ala391Thr) robustly associated with sleep duration and daytime sleepiness in recent large-scale UK Biobank sleep health genome-wide scans.