STAT4 rs4407186: Understanding Genetic Links to Autoimmunity
The rs4407186 variant is a single nucleotide polymorphism located within the STAT4 gene. Research has statistically associated this variant with an increased risk for several autoimmune conditions, including systemic lupus erythematosus and type 1 diabetes.
What each genotype means
Typical autoimmune risk profile
This genotype represents the common state for this variant in many populations. While STAT4 variants are linked to autoimmune conditions, this specific genotype does not carry the risk-associated allele identified in studies of systemic lupus erythematosus and other immune-mediated conditions. Please note that genetic risk is complex and influenced by many factors beyond a single variant.
This is the most common genotype observed across most global populations.
Increased autoimmune risk marker
Carrying one copy of the C allele is associated with a statistically higher risk for certain autoimmune conditions, such as systemic lupus erythematosus, in various research cohorts. This variant may influence cytokine signaling pathways that contribute to chronic inflammation. You should discuss your overall health history and any concerns regarding autoimmune symptoms with your clinician.
This genotype is found at varying frequencies globally, appearing in a significant portion of the population depending on ancestral background.
Elevated autoimmune risk marker
Carrying two copies of the C allele is associated with a higher statistical risk for developing certain autoimmune conditions compared to those without the variant. Research suggests this may be linked to altered STAT4 expression or function, which can impact immune system regulation. This finding is a statistical association and not a diagnosis; please consult with a healthcare provider to discuss your health profile.
This genotype is less common than the heterozygous state but is present across many diverse ancestral populations.
What is rs4407186?
The rs4407186 variant is a specific genetic change, or single nucleotide polymorphism (SNP), located within the STAT4 gene. In genomics, a SNP represents a variation at a single position in a DNA sequence among individuals. This particular variant is situated in a region of the genome that has been extensively studied for its influence on immune system regulation. When researchers identify a SNP like rs4407186, they are looking for statistical correlations between the presence of a specific DNA letter at that location and the occurrence of certain health traits or conditions. It is important to note that the presence of a specific allele at this site does not guarantee the development of any disease, but rather indicates a statistical association observed in large-scale population studies.
The Role of the STAT4 Gene
The STAT4 gene encodes the signal transducer and activator of transcription 4 protein. This protein plays a critical role in the signaling pathways of several important cytokines, including interleukin-12 and interferon-gamma. These signaling molecules are essential for the proper function and regulation of the immune system, particularly in the activation and differentiation of T-cells. Because STAT4 is a key mediator in these inflammatory pathways, variations in the gene can potentially alter how the body responds to immune triggers. Research suggests that when STAT4 signaling is dysregulated, it may contribute to the development of chronic inflammation or autoimmune responses, where the immune system mistakenly targets the body's own tissues.
Research and Autoimmune Associations
Scientific literature has identified STAT4 as a significant locus for autoimmune susceptibility. Multiple studies have linked variants within this gene to conditions such as systemic lupus erythematosus (SLE), rheumatoid arthritis, and type 1 diabetes. The evidence for these associations is considered moderate, as researchers have consistently observed these patterns across diverse populations, including Caucasian and Korean cohorts. While the statistical link is robust, the exact molecular mechanisms by which rs4407186 influences disease risk remain a subject of ongoing investigation. It is likely that this variant acts in concert with other genetic and environmental factors rather than acting as a sole cause of disease. Current research continues to explore how these genetic signals translate into the complex biological processes that characterize autoimmune disorders.
Population Frequency
The rs4407186 variant is considered a common polymorphism, meaning that the different alleles are found at significant frequencies across various human populations. Because it is common, many individuals carry one or two copies of the variant allele without ever developing an autoimmune condition. The frequency of these alleles can vary depending on ancestral background, which is a standard observation in human genetics. Large-scale genomic databases, such as gnomAD, provide data on how often these alleles appear globally. Understanding that this variant is common helps contextualize its role as a susceptibility factor rather than a deterministic mutation. It highlights that genetic risk is often a matter of probability and cumulative influence from many common variants across the entire genome.
Interpreting Your Genetic Information
Information regarding genetic variants like rs4407186 is intended for educational purposes and should not be used for medical diagnosis or personal health management. A genetic association does not equate to a clinical diagnosis, and many people with a 'risk' genotype remain healthy. If you are concerned about your risk for autoimmune conditions, it is essential to consult with a qualified healthcare professional who can evaluate your personal and family medical history. They can provide appropriate screenings or clinical assessments that are far more informative than genetic data alone. Never make changes to your health regimen or medication based on genetic test results without first discussing them with your doctor or a licensed genetic counselor.
How common is this variant?
The rs4407186 variant is a common polymorphism found across diverse ancestral populations, with its specific allele frequencies varying by geographic and ethnic background.
Frequently asked questions
Does having the rs4407186 variant mean I will get lupus?
No, having this variant does not mean you will develop lupus. It is only one of many genetic factors that may contribute to risk, and most people with the variant do not develop the condition.
Can I use this SNP to diagnose an autoimmune disease?
No, genetic variants cannot be used to diagnose autoimmune diseases. Diagnosis is based on clinical symptoms, physical exams, and specialized blood tests performed by a physician.
Is STAT4 the only gene involved in autoimmune risk?
No, autoimmunity is complex and involves many different genes, as well as environmental factors. STAT4 is just one of many loci that have been statistically linked to immune system regulation.
Where can I find more information about my specific genetic results?
You should discuss your genetic results with a healthcare provider or a certified genetic counselor. They can help you interpret the information in the context of your overall health and family history.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Intronic regulatory variant in STAT4 associated with increased susceptibility to systemic lupus erythematosus and rheumatoid arthritis.
This variant is associated with altered immune function and risk for systemic lupus erythematosus.
This SNP is associated with the regulation of inflammatory pathways and autoimmune risk.
This variant is associated with susceptibility to systemic lupus erythematosus and rheumatoid arthritis.
This genetic marker is associated with the modulation of immune response and susceptibility to inflammatory diseases.
This SNP is involved in the genetic predisposition to various autoimmune disorders.