IL4R rs117137535: Understanding Genetic Links to Atopic Dermatitis
The rs117137535 variant is a single nucleotide polymorphism located within the IL4R gene, which encodes a critical component of the interleukin-4 receptor. Research has identified this variant as a potential genetic marker associated with susceptibility to atopic dermatitis and allergic rhinitis.
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) situated on chromosome 16. In the context of human genomics, SNPs represent the most common type of genetic variation, where a single building block of DNA—a nucleotide—is replaced by another. This specific variant is located within the IL4R gene locus. Genomic studies, including those cataloged in the GWAS Catalog, have identified this site as a region of interest when investigating the genetic architecture of inflammatory and allergic conditions. Because it sits within a gene responsible for immune signaling, researchers study this location to determine if specific DNA changes might alter how the body regulates immune responses, potentially contributing to the development of skin or respiratory sensitivities.
The Role of the IL4R Gene
The IL4R gene provides instructions for creating the alpha subunit of the interleukin-4 receptor. This receptor is essential for the function of two key immune signaling molecules, interleukin-4 (IL-4) and interleukin-13 (IL-13). These cytokines are central to the Th2 immune response, which is the pathway typically involved in allergic reactions and the body's defense against parasites. When IL-4 or IL-13 binds to the receptor, it triggers a cascade of signals that can lead to inflammation, the production of IgE antibodies, and the activation of various immune cells. Because this pathway is so fundamental to allergic inflammation, variations in the IL4R gene are frequently investigated to see if they lead to overactive or dysregulated immune responses, which may manifest as conditions like asthma, eczema, or allergic rhinitis.
Evidence and Associations
The evidence linking rs117137535 to allergic traits is currently considered limited. While some studies have identified this variant in association with atopic dermatitis and allergic rhinitis, the strength of these associations can vary significantly between different populations and study designs. It is important to note that genetic association does not imply direct causation. Many allergic conditions are polygenic, meaning they are influenced by the cumulative effect of hundreds of small genetic variants, as well as significant environmental factors like allergen exposure, pollution, and early-life immune development. Because findings in this field are often mixed—with some studies finding significant links and others finding no evidence of association—the scientific community views these results as preliminary. Further large-scale research is required to clarify the functional impact of this specific variant.
Population Frequency
Genetic variants are rarely distributed equally across all human populations. According to data from gnomAD, the minor allele frequency (MAF) for rs117137535 is approximately 0.04 in European populations. This means that the variant is relatively uncommon but present in a significant portion of the population. Because allele frequencies can differ drastically based on ancestral background, it is common for a variant that appears to be a risk factor in one ethnic group to show different or negligible effects in another. Researchers use these frequency data to help determine if a variant is common enough to be a meaningful contributor to a trait or if it is a rare mutation with a more localized impact.
Interpreting Your Genetic Information
If you have received information about your genotype for rs117137535, it is important to understand that this data is for educational purposes only. Having a specific genotype does not mean you will develop a particular condition, nor does it provide a diagnosis. Allergic diseases are complex and influenced by a wide array of genetic and environmental factors that a single SNP cannot capture. You should never use genetic information to make medical decisions, such as starting or stopping medications or changing your diet. If you are concerned about symptoms of atopic dermatitis, asthma, or allergies, the most effective approach is to consult with a healthcare professional or an allergist. They can provide a clinical evaluation based on your medical history and symptoms, which is far more informative than any single genetic variant.
How common is this variant?
The variant rs117137535 has a minor allele frequency of approximately 0.04 in European populations according to gnomAD data.
Frequently asked questions
Does having the rs117137535 variant mean I have allergies?
No. Genetic variants are only one small piece of a very complex puzzle. Many people with this variant do not have allergies, and many people with allergies do not carry this variant.
Can I use this information to prevent eczema?
There is no evidence that knowing your status for this variant can be used to prevent eczema. Eczema is managed through clinical care, skin barrier protection, and identifying environmental triggers with a doctor.
Is this variant the same as the Q576R polymorphism?
No, rs117137535 is a distinct variant from the well-studied Q576R (rs1801275) polymorphism. While both are in the IL4R gene, they are different genetic markers.
Should I get tested for this variant?
Clinical genetic testing for common variants like this is generally not recommended for the general public. It does not provide actionable medical information for diagnosing or treating allergic conditions.
Sources & further reading
Educational information only, last refreshed 10/28/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs117137535?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in IL4R
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.