PTGDR2 rs1169288: What Your Genotype Means
The rs1169288 variant is a single-nucleotide polymorphism located within the PTGDR2 gene. Research has associated this genetic marker with susceptibility to allergic diseases and asthma, though the evidence remains limited.
What each genotype means
Typical asthma susceptibility profile
This genotype represents the common state for this variant in the PTGDR2 gene. Research indicates that variants in this region are associated with susceptibility to allergic diseases and asthma, though the specific impact of this genotype is considered limited and may vary by ancestry.
This is the most common genotype observed in most global populations.
Potential asthma susceptibility marker
Carrying one copy of the T allele has been studied in the context of asthma susceptibility and allergic disease. Because the evidence for this specific variant is limited, this genotype should be viewed as a minor factor among many genetic and environmental influences on immune health.
This heterozygous genotype is found at varying frequencies across different ancestral groups, generally appearing in a significant minority of the population.
Increased asthma susceptibility marker
This genotype involves two copies of the T allele, which has been investigated for its association with the PTGDR2 receptor and allergic disease risk. While some studies suggest a link to asthma susceptibility, the evidence remains limited and does not serve as a diagnostic tool for any condition.
This genotype is less common than the CC or CT configurations and its frequency varies significantly depending on ancestral background.
Understanding the rs1169288 Variant
A single-nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs1169288 is located within the PTGDR2 gene, which provides instructions for making the Prostaglandin D2 Receptor 2, also known as CRTH2. This receptor plays a significant role in the human immune system, particularly in the context of inflammatory responses. When researchers study this specific SNP, they are looking at how small changes in the genetic code might influence the expression or function of this receptor. Because this variant is located in a region associated with immune regulation, it has become a subject of interest for scientists investigating the genetic underpinnings of complex conditions like asthma and other allergic responses. It is important to note that while this variant is a point of interest, it is just one of many genetic and environmental factors that contribute to the development of such conditions.
The Role of the PTGDR2 Gene
The PTGDR2 gene encodes the CRTH2 receptor, which is primarily expressed on certain types of white blood cells, including Th2 cells, eosinophils, and basophils. These cells are key players in the body's allergic response. When the body encounters an allergen, the CRTH2 receptor helps mediate the migration and activation of these immune cells to the site of inflammation. By facilitating this pro-inflammatory chemotaxis, the receptor contributes to the symptoms often associated with allergic diseases, such as airway inflammation in asthma. Because of its central role in these pathways, variations in the PTGDR2 gene are hypothesized to potentially alter how the immune system reacts to environmental triggers. Understanding the function of this gene helps researchers piece together the biological mechanisms that lead to the development of allergic phenotypes, providing a clearer picture of why some individuals may be more predisposed to these conditions than others.
Research and Evidence Strength
The association between rs1169288 and allergic disease is currently categorized as having limited evidence. While various genome-wide association studies (GWAS) have explored the genetic architecture of asthma and related allergic conditions, the findings for specific SNPs like rs1169288 can be complex. Some studies suggest that variants in the PTGDR2 region may influence susceptibility, but these associations are often dependent on the specific population being studied and the environmental context. It is common in genetic research for initial findings to require replication across larger and more diverse cohorts to confirm the strength and consistency of an association. Consequently, while rs1169288 is a recognized marker in the GWAS Catalog, it should not be viewed as a definitive diagnostic tool. The current scientific consensus emphasizes that asthma is a polygenic trait, meaning it is influenced by the cumulative effect of many different genetic variants, each contributing a small amount to the overall risk, alongside significant environmental influences.
Population Frequency
The rs1169288 variant is considered a common SNP, meaning it is found at a relatively high frequency across many different human populations. Genetic variants that are common are often those that have been present in the human gene pool for a long time. Because it is common, many individuals carry one or two copies of the variant allele. However, the exact frequency can vary significantly depending on ancestral background. In genetic studies, researchers often observe that the distribution of alleles differs between populations of European, African, Asian, and Latino descent. These differences are a normal part of human genetic diversity. When interpreting data regarding this variant, it is essential to consider that a common frequency does not necessarily imply a high risk for any individual. Instead, it highlights that the variant is a standard part of the human genetic landscape, and its presence is not an indicator of disease on its own.
What You Can Do With This Information
Information about your genotype for rs1169288 is primarily educational and should not be used for medical diagnosis or to make personal health decisions. Because the evidence linking this variant to specific health outcomes is limited, it cannot predict whether you will develop asthma or an allergic condition. If you have concerns about your respiratory health, allergies, or family history of disease, the most effective approach is to consult with a healthcare professional, such as an allergist or a primary care physician. They can evaluate your symptoms, medical history, and environmental exposures to provide appropriate guidance. Never change or stop any prescribed medications based on genetic information without first discussing it with your clinician or pharmacist. Genetic testing for common variants is a tool for scientific discovery, but it is not a substitute for clinical evaluation and personalized medical advice from a qualified healthcare provider.
How common is this variant?
The rs1169288 variant is a common polymorphism found across diverse human populations, with varying allele frequencies observed between different ancestral groups.
Frequently asked questions
Does having the rs1169288 variant mean I have asthma?
No. Having this variant does not mean you have or will develop asthma. Asthma is a complex condition influenced by many genetic and environmental factors, and this SNP is only one small piece of a much larger puzzle.
Can I use this genetic information to diagnose an allergy?
No. Genetic variants like rs1169288 are not diagnostic tools. Allergies are diagnosed by healthcare professionals through clinical evaluation, medical history, and physical testing, not by looking at a single genetic marker.
Should I change my medication based on my rs1169288 genotype?
No. You should never change or stop any medication based on genetic test results. Always consult with your doctor or pharmacist before making any changes to your prescribed treatment plan.
Why is the evidence for this variant called 'limited'?
The term 'limited' means that while some studies have shown an association, the findings may not be consistent across all populations or may require more research to fully understand the biological impact. It indicates that the scientific community has not yet reached a definitive conclusion about the variant's clinical significance.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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