IL4R rs117137535: Understanding Your Genetic Variant
The rs117137535 variant is a genetic marker located near the IL4R gene, which plays a role in immune system regulation. Research has linked this specific site to an increased likelihood of developing atopic dermatitis and allergic rhinitis in certain populations.
What each genotype means
Typical Atopic Risk Profile
You carry two copies of the common C allele at rs117137535 near the IL4R gene. In genome-wide association research, this baseline genotype is not associated with elevated interleukin-4 receptor signaling or increased genetic susceptibility to atopic dermatitis or allergic rhinitis. Because allergy and eczema risk is shaped by many genetic variants and environmental factors, this genotype alone does not rule out developing atopic conditions.
Carried by approximately 92% of individuals of European ancestry and the vast majority of non-European populations globally.
Slightly Elevated Atopic Predisposition
You carry one copy of the less common T allele at rs117137535 in the IL4R region. Population-level association studies provide limited evidence linking the T allele to modest alterations in IL4R-mediated immune signaling and a slight increase in statistical risk for allergic rhinitis and atopic dermatitis. Having this variant copy represents only a minor statistical predisposition, not a clinical diagnosis of any allergic disease.
Carried by roughly 7% to 8% of people of European descent and is observed at lower frequencies across other ancestries.
Moderately Elevated Atopic Predisposition
You carry two copies of the less common T allele at rs117137535 near the IL4R gene. Emerging research suggests homozygous carriers may have a slightly stronger genetic predisposition toward allergic inflammatory traits, such as atopic dermatitis and allergic rhinitis, relative to baseline. However, evidence remains limited and allergic conditions depend heavily on environmental exposures and multiple other genes, meaning this genotype does not determine clinical outcomes.
Carried by fewer than 1 in 500 individuals of European descent (under 0.2%) and is extremely rare globally.
What is rs117137535?
The variant rs117137535 is a single nucleotide polymorphism (SNP), which is a variation at a single position in the DNA sequence. It is situated in the genomic region surrounding the IL4R gene. In genetics, SNPs are the most common type of variation among people, and they often serve as biological signposts. While many SNPs have no effect on health, some are located in areas that influence how genes are turned on or off. Researchers study these variants to understand the complex genetic architecture behind common inflammatory conditions. Because this variant is located in a non-coding region, it is hypothesized that it may influence gene expression or regulatory mechanisms rather than directly altering the structure of a protein. Scientists use large-scale studies to determine if the presence of a specific allele at this position correlates with certain physical traits or disease risks.
The Role of the IL4R Gene
The IL4R gene provides instructions for making a protein called the interleukin-4 receptor. This receptor is a critical component of the immune system, specifically involved in signaling pathways that regulate inflammation and the body's response to allergens. When interleukin-4 binds to its receptor, it triggers a cascade of signals that influence the behavior of various immune cells, including T cells and B cells. Because of its central role in immune signaling, variations in or near the IL4R gene are frequently investigated in the context of allergic diseases. Dysregulation of this pathway can lead to an overactive immune response, which is a hallmark of conditions like atopic dermatitis (eczema) and allergic rhinitis. Understanding how this gene functions helps researchers map the biological pathways that contribute to skin inflammation and allergic sensitivity.
Research and Evidence Strength
The association between rs117137535 and conditions like atopic dermatitis is supported by genome-wide association studies (GWAS). These studies compare the DNA of individuals with a specific condition to those without it to identify statistical links. While the evidence for this variant is considered limited, it has been highlighted in research exploring the genetic risk factors for allergic diseases. It is important to note that genetic associations are statistical in nature and do not imply a direct cause-and-effect relationship. Many factors, including environmental triggers and other genetic variants, contribute to the development of atopic dermatitis. Current research is ongoing to determine the exact functional impact of this variant, as many GWAS-identified signals reside in non-coding regions where their specific biological roles are still being uncovered through functional assays and transcriptome-wide analyses.
Population Frequency
Genetic variants are not distributed equally across all human populations. For rs117137535, the minor allele frequency (MAF) is approximately 0.04 in European populations, according to data from gnomAD. This means that the variant is relatively uncommon but present in a significant portion of the population. Frequency data is essential for researchers because it helps determine the statistical power of a study and provides context for how common a risk factor might be within a specific ancestral group. Because genetic studies have historically focused on European cohorts, there is often less data available for other ancestral backgrounds. As research expands to include more diverse populations, our understanding of how this variant's frequency and its associated risks vary globally will continue to improve.
Interpreting Your Genetic Information
If you have information about your genotype for rs117137535, it is important to view it as one small piece of a much larger puzzle. Genetic testing for common variants does not provide a medical diagnosis, nor can it predict with certainty whether you will develop a specific condition. Atopic dermatitis and allergic rhinitis are complex, multifactorial diseases influenced by a combination of genetics, lifestyle, and environmental exposures. You cannot change your genotype, but understanding your genetic predispositions can be a tool for personal health awareness. If you have concerns about skin health, allergies, or immune function, the most effective approach is to consult with a healthcare professional or an allergist. They can provide personalized guidance based on your clinical history and symptoms, rather than relying on genetic data alone.
How common is this variant?
The variant has a minor allele frequency of approximately 0.04 in European populations as reported in gnomAD.
Frequently asked questions
Does having the rs117137535 variant mean I will get eczema?
No. Having a specific genotype does not guarantee that you will develop atopic dermatitis. Many people with this variant never develop the condition, and many people without it do.
Can I use this information to treat my allergies?
Genetic information is not a substitute for medical advice. You should always discuss any symptoms or treatment plans for allergies with a qualified healthcare provider or allergist.
Why is the evidence for this variant called 'limited'?
Evidence is labeled as limited when the statistical association is not yet fully supported by functional biological proof or when studies have not consistently replicated the findings across diverse populations.
Where can I find more information about my specific genetic results?
You can discuss your genetic reports with a genetic counselor or your primary care physician. They can help you interpret the results in the context of your overall health and family history.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A polymorphism modulating IL-4 and IL-13 signaling thresholds on mucosal surfaces, conferring altered predisposition to aeroallergen reactivity.
A well-characterized functional missense variant (I50V) in the IL-4 receptor alpha chain that enhances downstream allergic and Th2 signaling pathways.
Missense variant (p.Gln551Arg) in interleukin 4 receptor subunit alpha strongly linked to atopic asthma and IgE regulation.
A functional variant within the IL4R promoter/intron region modulating receptor density and susceptibility to atopic eczema and allergic rhinitis.
A coding missense variant (Q576R) in the IL-4 receptor alpha chain that potentiates downstream STAT6 signaling, increasing predisposition to atopic asthma and severe allergic sensitization.
A missense variant in the interleukin 4 receptor alpha chain that impacts signaling sensitivity and is associated with allergic bronchopulmonary disorders and atopic dermatitis.