IL4R rs1801275: Understanding the Q551R Variant and Asthma Risk
The rs1801275 variant is a common genetic change in the IL4R gene that results in a p.Gln551Arg amino acid substitution. It has been extensively studied for its potential role in modulating immune responses and its statistical association with atopic asthma and IgE regulation.
What each genotype means
Baseline IL4R receptor activity
This genotype represents the common reference form of the IL4R gene. Research indicates that individuals with this profile do not carry the specific Gln551Arg substitution associated with altered receptor signaling in some studies of atopic asthma. This is considered the baseline state for this variant.
Carried by approximately 4% of people in some studied White cohorts, though frequencies vary significantly by ancestry.
Increased atopic asthma risk
This genotype indicates you carry one copy of the Arg551 variant, which has been linked in some meta-analyses to an increased risk of atopic asthma and altered IgE regulation. Because evidence for this association is limited and conflicting across different populations, this result should be viewed as a statistical observation rather than a diagnostic indicator. Please discuss any respiratory concerns with your healthcare provider.
Carried by approximately 29% of people in some studied White cohorts.
Elevated atopic asthma risk
This genotype indicates you carry two copies of the Arg551 variant, which has been associated with a higher risk of atopic asthma and potential changes in receptor function in some research. The evidence linking this variant to clinical outcomes is mixed and often depends on specific ancestral backgrounds. This information is for educational purposes and should not be used to guide medical decisions without consulting a clinician.
Carried by approximately 64% of people in some studied White cohorts.
What is the rs1801275 Variant?
The rs1801275 variant is a single nucleotide polymorphism (SNP) located within the IL4R gene on chromosome 16. In scientific literature, this variant is frequently referred to as Q551R, indicating that at position 551 of the protein, the amino acid glutamine (Q) is replaced by arginine (R). Some research papers may also refer to this as the 576 variant due to differences in how the protein sequence is numbered in various studies. As a missense variant, it alters the genetic code, potentially changing the structure or function of the resulting interleukin-4 receptor alpha protein. Because this receptor is a critical component of the immune system, researchers have long investigated whether this specific change influences how the body responds to certain inflammatory signals.
The Role of the IL4R Gene
The IL4R gene provides instructions for making the alpha subunit of the interleukin-4 receptor. This receptor is essential for the signaling of two key immune system molecules: interleukin-4 (IL-4) and interleukin-13 (IL-13). These cytokines play a central role in regulating the immune response, particularly in the development of allergic inflammation and the production of immunoglobulin E (IgE), an antibody involved in allergic reactions. When IL-4 or IL-13 binds to the receptor, it triggers a signaling cascade, often involving the protein STAT6, which leads to the activation of various immune cells. Because of its central role in these pathways, variations in the IL4R gene are hypothesized to potentially alter the sensitivity or intensity of these immune responses, which is why the gene is a frequent subject of study in the context of allergic diseases.
Research Associations and Evidence Strength
Research into rs1801275 has produced mixed and sometimes controversial results regarding its link to asthma. Several studies have reported that the variant is associated with increased IgE levels, lower lung function, and a higher risk of atopic asthma. Some laboratory experiments suggest that cells carrying the 551R variant may show enhanced responsiveness to IL-4 stimulation compared to the 551Q version. However, the strength of this evidence is considered limited because findings are often inconsistent across different populations. While some meta-analyses have identified a statistical association with asthma risk, others have failed to replicate these findings in different ethnic groups. This suggests that the impact of rs1801275 may be highly dependent on an individual's genetic background or environmental factors, and it is not a definitive predictor of disease.
Population Frequency
The rs1801275 variant is relatively common, with a minor allele frequency (MAF) typically ranging between 0.20 and 0.30 across various global populations. This means that a significant portion of the general population carries at least one copy of the variant allele. Because it is so common, it is considered a normal variation in the human genome rather than a rare mutation. However, the distribution of the genotypes can vary significantly depending on ancestral background. For example, some studies have noted higher prevalence rates in specific populations, such as African American cohorts, compared to others. Understanding these frequency differences is important for researchers when interpreting the results of genetic association studies, as it helps clarify whether a reported link to a health trait is consistent across diverse groups or specific to one.
What This Information Means for You
It is important to understand that having a specific genotype for rs1801275 does not mean you will develop asthma or any other allergic condition. Asthma is a complex, multifactorial disease influenced by a combination of many different genes, environmental exposures, and lifestyle factors. A genetic variant like rs1801275 represents only a very small piece of a much larger puzzle. You cannot use this information to diagnose yourself or predict your future health. If you have concerns about asthma, allergies, or your immune health, the most effective approach is to consult with a healthcare professional, such as an allergist or immunologist. They can evaluate your symptoms, medical history, and clinical test results to provide appropriate guidance. Never make changes to your medications or health management based on genetic test results without first discussing them with your doctor or pharmacist.
How common is this variant?
The rs1801275 variant is common, with a minor allele frequency typically between 0.20 and 0.30 across diverse ancestral populations.
Frequently asked questions
Does the rs1801275 variant cause asthma?
No, this variant does not cause asthma. Asthma is a complex condition influenced by many genetic and environmental factors, and this SNP is only one of many potential contributors identified in research.
Should I get tested for the IL4R rs1801275 variant?
There is currently no clinical recommendation to test for this variant. Because the association with disease is limited and inconsistent, it does not provide actionable information for routine medical care.
Can I change my risk if I have the G allele?
Genetic variants are fixed at birth. However, managing environmental triggers and working with a healthcare provider to control allergic symptoms is the standard approach to managing asthma risk, regardless of your genotype.
Is this variant the same as the 576 variant?
Yes, the rs1801275 variant is sometimes referred to as the 576 variant in scientific literature. This naming difference arises from variations in how researchers number the amino acids in the IL4R protein.
Sources & further reading
Educational information only, last refreshed 9/20/2026. 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.
Variant in the IL4R locus associated with atopic dermatitis and allergic rhinitis susceptibility.
A well-characterized functional missense variant (I50V) in the IL-4 receptor alpha chain that enhances downstream allergic and Th2 signaling pathways.
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.