NCAM2 rs7275360: Understanding the Genetic Link to Allergic Disease
The rs7275360 variant is a single nucleotide polymorphism (SNP) located within the NCAM2 gene. Research has identified a suggestive association between this genetic marker and combined allergic disease phenotypes, such as atopic dermatitis and allergic rhinitis, specifically within East Asian populations.
What each genotype means
Baseline allergic disease risk
This genotype represents the absence of the minor allele associated with allergic disease in certain studies. Research in East Asian populations has identified this variant as having a suggestive association with allergic disease phenotypes, but the evidence remains limited and requires further validation. This result does not constitute a medical diagnosis.
This is the most common genotype globally, though frequencies vary significantly by ancestry.
Increased allergic disease association
You carry one copy of the minor allele that has shown a suggestive statistical association with allergic disease phenotypes in East Asian populations. Because this evidence is limited and based on population-level studies, it cannot predict your individual health outcomes. Please consult with a healthcare professional regarding any concerns about allergic conditions.
This genotype is observed in a significant portion of the population, particularly in East Asian cohorts where the minor allele frequency is approximately 0.35.
Elevated allergic disease association
You carry two copies of the minor allele that has been identified in research as having a suggestive association with allergic disease phenotypes in East Asian populations. Current evidence is limited and does not imply a direct causal link to disease for any specific individual. This information is for educational purposes and should not be used for medical decision-making.
This genotype is less common than the heterozygous state, occurring at frequencies consistent with a minor allele frequency of approximately 0.35 in East Asian populations.
What is rs7275360?
The variant rs7275360 is a single nucleotide polymorphism, or SNP, which is a common type of genetic variation where a single "letter" in the DNA sequence differs between individuals. This specific SNP is classified as an intronic variant, meaning it is located within an intron—a non-coding region of the NCAM2 gene. Because it sits in an intron, it does not directly change the protein sequence produced by the gene, but it may influence how the gene is regulated or expressed. It is located on chromosome 21 at position 21q21.1. In the context of genomics, identifying such variants helps researchers map the complex genetic architecture of multifactorial traits, though intronic variants often require further functional studies to determine their precise biological impact on health.
The Role of the NCAM2 Gene
The NCAM2 gene encodes the Neural Cell Adhesion Molecule 2, a protein that belongs to the immunoglobulin superfamily. As its name suggests, this protein is primarily involved in cell-to-cell adhesion within the nervous system, playing a critical role in neuronal differentiation and the organization of axons. While NCAM2 is most recognized for its function in brain development and connectivity, its potential involvement in immune-related conditions is an emerging area of interest. Some researchers hypothesize that because neurodevelopmental pathways and immune responses can share underlying biological mechanisms, variations in genes like NCAM2 might indirectly influence susceptibility to inflammatory conditions. However, NCAM2 is not a traditional "immune gene," and its exact contribution to the development of allergic diseases remains a subject of ongoing scientific investigation.
Evidence and Research Associations
The association between rs7275360 and allergic disease was highlighted in a genome-wide association study (GWAS) conducted on the Korean population. The study identified this SNP as having a suggestive association with self-reported allergic disease phenotypes, including atopic dermatitis and allergic rhinitis. It is important to note that the evidence for this association is currently considered suggestive rather than definitive, as the statistical p-values did not reach the strict threshold typically required for genome-wide significance. Furthermore, these findings have not yet been widely replicated in other ethnic groups. The researchers noted that while the link is statistically interesting, it is not a diagnostic marker. The complexity of allergic diseases, which involve a mix of genetic, environmental, and lifestyle factors, means that a single SNP like rs7275360 likely contributes only a very small fraction to an individual's overall risk.
Population Frequency
Genetic variants often show significant differences in frequency across different ancestral groups. For rs7275360, the minor allele frequency is approximately 0.35 in East Asian populations, while global data from the gnomAD database indicates a frequency of approximately 0.42. These numbers suggest that the variant is relatively common in the general population, rather than being a rare mutation. Because it is common, it is considered a normal part of human genetic diversity. The fact that it is found at different frequencies across populations highlights the importance of conducting genetic research in diverse groups to ensure that findings are applicable and accurate for everyone. Researchers use these frequency data to better understand the evolutionary history of variants and to refine the statistical models used in large-scale health studies.
What This Information Means for You
If you have learned that you carry a specific genotype for rs7275360, it is important to view this information in the proper context. This variant is associated with a suggestive, not causative, link to allergic disease in specific populations. It is not a medical diagnosis, and it cannot predict whether you will develop allergies or how severe they might be. Allergic conditions are complex and influenced by many genes and environmental triggers. You should never use genetic information to make decisions about your health, such as starting or stopping medications, without consulting a qualified healthcare professional. If you are concerned about allergies or your immune health, the best course of action is to speak with an allergist or primary care physician who can evaluate your symptoms, medical history, and environmental factors to provide personalized guidance.
How common is this variant?
The minor allele frequency for rs7275360 is approximately 0.35 in East Asian populations and approximately 0.42 globally according to gnomAD data.
Frequently asked questions
Does having the rs7275360 variant mean I will get allergies?
No. This variant is only associated with a suggestive increase in risk for allergic disease in certain populations. It is not a diagnostic test, and many people with this variant do not have allergies.
Is rs7275360 a mutation that causes disease?
No, it is a common genetic variant, not a disease-causing mutation. It is a normal part of human genetic variation found in a large portion of the population.
Can I use this information to change my allergy treatment?
No. You should never change your medical treatment based on genetic data. Always consult with your doctor or pharmacist regarding any changes to your health management.
Why is this variant linked to NCAM2 if it's an allergy study?
The variant is located within the NCAM2 gene, which is why it is linked to that gene. Researchers are exploring whether genes involved in brain development might also have secondary roles in immune system regulation.
Sources & further reading
Educational information only, last refreshed 9/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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