FAM118A rs6007514: Allergy and Sensitization Genetics
The rs6007514 polymorphism is a common single-nucleotide variant situated within the human FAM118A gene locus on chromosome 22. In genome-wide association studies, this variant has been linked with susceptibility to allergic conditions, including allergic rhinitis (hay fever), generalized allergen sensitization, and food allergy phenotypes such as peanut allergy. Carrying specific alleles modestly shifts the statistical risk of immune atopy rather than definitively causing an allergic disease.
What each genotype means
Baseline allergy risk
This genotype represents the common genetic state at this location. Research indicates that individuals with this profile do not carry the specific variant associated with increased susceptibility to peanut allergy and hay fever in certain genome-wide association studies.
This is the most common genotype in many populations, though exact frequencies vary by ancestry.
Increased allergy susceptibility
This genotype includes one copy of the variant associated with allergen sensitization and peanut allergy susceptibility. While this association has been observed in large-scale studies, it is important to remember that genetic predisposition is only one factor in the development of allergies; please consult with an allergist or clinician regarding any personal health concerns.
This heterozygous genotype is found in a significant portion of the population, consistent with the reported minor allele frequency of approximately 0.48 in European populations.
Elevated allergy susceptibility
This genotype carries two copies of the variant associated with increased susceptibility to peanut allergy and hay fever in genome-wide association studies. This finding reflects a statistical association observed in research populations and does not constitute a medical diagnosis; please discuss any symptoms or concerns with a qualified healthcare provider.
This homozygous genotype is present in a substantial segment of the population, reflecting the relatively high frequency of the minor allele in European ancestry groups.
Genomic Location and the FAM118A Gene
The single-nucleotide polymorphism rs6007514 resides on chromosome 22q13.31 within the region containing FAM118A (Family With Sequence Similarity 118 Member A). While many classic allergy-associated genes code for well-characterized immune signaling molecules such as cytokines or human leukocyte antigens (HLA), FAM118A encodes a ubiquitously expressed protein whose precise immunological functions remain under active scientific investigation. The rs6007514 variant sits in non-coding sequence, suggesting it likely acts as a regulatory variant affecting transcription or mRNA processing, or functions as a genetic tag in linkage disequilibrium with other functional changes nearby. Because non-coding variants frequently alter chromatin accessibility or local enhancer activities, researchers continue to study whether altered expression of FAM118A or neighboring loci modulates immune responsiveness or epithelial barrier integrity in atopic individuals.
The Scientific Evidence: Allergic Rhinitis and Peanut Allergy
Large-scale genome-wide association studies (GWAS) analyzing allergic disease cohorts have identified rs6007514 as an associated locus for allergic sensitization, hay fever symptoms, and specific food allergies such as peanut allergy. In complex traits like atopy, individual common variants generally exert modest effect sizes rather than high-penetrance causation. For rs6007514, each copy of the risk allele typically confers a small incremental change in odds ratio, shifting an individual's baseline biological susceptibility rather than guaranteeing disease onset. The strength of evidence connecting this genomic locus to allergic traits is considered moderate: multiple independent GWAS datasets replicate associations across allergic phenotypes, but fine-mapping and definitive functional biochemical validation linking the specific nucleotide substitution directly to immune dysregulation are still emerging.
Population Patterns and Diversity
The rs6007514 variant is very common across global human groups, though precise allele frequencies vary notably among different continental ancestries. In populations of European descent, the minor allele frequency is relatively balanced at approximately 0.48, making heterozygous and homozygous genotypes frequent across individuals. Because modern allergy genome-wide scans have predominantly recruited participants of European ancestry, statistical associations for rs6007514 are most thoroughly described in these groups. Allelic distributions and linkage disequilibrium patterns can differ significantly across African, East Asian, and admixed populations. Consequently, caution is warranted when extrapolating relative risk estimates derived from single-ancestry GWAS across diverse worldwide ancestral backgrounds.
Clinical Interpretation and Everyday Actionability
Understanding your rs6007514 genotype provides an educational glimpse into inherited polygenic atopic tendencies, but it cannot be used as a standalone diagnostic tool. Allergic sensitization and clinical allergies are multifactorial conditions shaped by hundreds of genetic variants interacting with environmental factors such as early allergen exposures, microbiome health, and barrier integrity. Having a higher-attention genotype does not mean you have an active allergy, nor does possessing a favorable genotype guarantee you will never experience hay fever or peanut reactivity. Clinical allergy diagnoses depend on validated medical evaluations, including thorough patient histories, specific IgE blood tests, and skin-prick testing performed under the supervision of a licensed physician or allergist.
How common is this variant?
The minor allele frequency for rs6007514 is approximately 0.48 in European populations, making all three genotypes common. Frequencies vary across other global ancestral groups, where linkage disequilibrium patterns may also differ.
Frequently asked questions
Does having the rs6007514 risk genotype mean I am allergic to peanuts?
No, carrying the risk-associated allele does not mean you have a peanut allergy. It simply reflects a small statistical variation observed in large population studies of allergic susceptibility. True clinical food allergies require an immune diagnosis based on clinical symptoms and formal medical testing.
Can rs6007514 genetic testing replace standard allergy testing?
No, genetic variant analysis cannot replace clinical allergy evaluations such as skin-prick tests or serum IgE testing. Genetic tests identify general inherited predispositions across populations, whereas clinical allergy tests evaluate whether your immune system actively produces an allergic response to specific substances.
What is the role of the FAM118A gene in the immune system?
The biological mechanism of FAM118A in immune regulation is still being actively researched by scientists. The rs6007514 variant may influence local gene expression or act as a proxy marker for nearby immune-modulating regulatory DNA regions on chromosome 22.
Why do common allergy variants have such small individual effects?
Common atopic disorders like hay fever and food allergies are polygenic, meaning they are influenced by hundreds of different genetic variants acting together. Each individual variant, such as rs6007514, contributes only a minor fraction toward a person's total physiological predisposition.
Sources & further reading
Educational information only, last refreshed 9/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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