EMSY rs6534340: What Your Genotype Means
The rs6534340 variant is a genetic marker located on chromosome 11 near the EMSY and LRRC32 genes. It has been identified in research studies as being associated with a susceptibility to atopic dermatitis, commonly known as eczema, and other allergic conditions.
What each genotype means
Typical eczema susceptibility
Your genotype shows two copies of the common C allele at this locus near EMSY and LRRC32. Population studies have not identified an elevated statistical risk for atopic dermatitis or allergic sensitization associated with this specific genotype. Because eczema and allergic conditions are influenced by many complex lifestyle and genetic factors, this genotype alone does not prevent symptoms from developing.
Carried by approximately 40% to 45% of individuals of European ancestry, and represents the majority genotype in most populations worldwide.
Modestly increased eczema risk
You carry one copy of the T risk allele in the EMSY/LRRC32 locus. Genome-wide association studies link this allele to a small statistical increase in the risk of developing atopic dermatitis, eczema, and allergic sensitization, primarily characterized in European cohorts. This is a subtle susceptibility factor rather than a direct cause, meaning many carriers never experience chronic skin irritation or allergies.
Carried by roughly 45% of people of European ancestry, where the T allele occurs at a frequency of approximately 35%.
Elevated eczema susceptibility
You have two copies of the T risk allele in the EMSY/LRRC32 region on chromosome 11. Large genetic studies observe a modest additive increase in statistical susceptibility to atopic dermatitis, allergic sensitization, and childhood eczema among individuals with this genotype. However, because genetic evidence remains limited and atopic conditions depend heavily on environmental exposures and multiple genes, having two risk alleles does not guarantee skin disease.
Carried by roughly 10% to 15% of people of European ancestry; it occurs at varying frequencies across other global ancestries.
Understanding the rs6534340 Variant
The rs6534340 variant is a single nucleotide polymorphism (SNP) situated in a non-coding, intergenic region on chromosome 11q13.5. In genetics, SNPs are the most common type of variation among people, representing a difference in a single DNA building block. This specific location is of significant interest to researchers because it sits between two candidate genes: EMSY and LRRC32. Because this variant is located in a regulatory region rather than within the protein-coding sequence of a gene, it is thought to influence how these nearby genes are expressed or regulated rather than changing the structure of the proteins they produce. Genomic studies have shown that this region contains active promoters, suggesting it plays a role in controlling gene activity in skin tissues.
The Role of EMSY and LRRC32
The genes flanking the rs6534340 variant, EMSY and LRRC32, are both considered important in the context of skin barrier function and immune regulation. EMSY encodes a transcriptional regulator that has been shown to influence the expression of various components necessary for maintaining a healthy skin barrier. When the skin barrier is compromised, it can lead to increased susceptibility to inflammatory conditions like atopic dermatitis. Similarly, LRRC32, also known as GARP, is involved in immune system processes. Research suggests that both genes may contribute to the complex biological pathways that lead to allergic sensitization. Because these genes are located within the same topologically associating domain, they are often studied together to understand how variations in this specific chromosomal region contribute to the development of eczema and other related allergic diseases.
Research and Evidence Strength
The association between the 11q13.5 locus and atopic dermatitis has been identified through multiple genome-wide association studies (GWAS). These studies compare the DNA of individuals with a specific trait to those without it to find statistical correlations. While the evidence linking this region to atopic dermatitis is well-documented in the scientific literature, the specific functional mechanisms remain a subject of ongoing research. It is important to note that the evidence for this specific variant is considered limited in terms of its predictive power for an individual. Atopic dermatitis is a complex, polygenic condition, meaning it is influenced by many different genetic variants, environmental factors, and lifestyle choices. Therefore, having a specific genotype at rs6534340 does not mean an individual will develop eczema, nor does the absence of the variant guarantee protection.
Population Frequency
The rs6534340 variant is relatively common in human populations. According to data from the Genome Aggregation Database (gnomAD), the minor allele frequency is approximately 0.35 in European populations. This means that a significant portion of the population carries at least one copy of the variant. Because it is so common, it is considered a normal part of human genetic diversity rather than a rare mutation. Frequencies can vary across different ancestral groups, and researchers continue to refine these estimates as more diverse genomic data becomes available. Understanding these frequencies helps scientists determine the prevalence of the variant across global populations and assess its contribution to the overall genetic architecture of allergic diseases.
What This Information Means for You
Genetic information regarding variants like rs6534340 is primarily used for scientific research to better understand the biological pathways of diseases. It is not a diagnostic tool. If you are concerned about skin health, eczema, or allergic reactions, it is essential to consult with a dermatologist or a primary care physician. They can provide a clinical evaluation based on your symptoms, medical history, and physical examination, which are far more informative than any single genetic variant. You cannot use this information to predict your health outcomes or to make medical decisions. Always rely on professional medical advice for the management of any skin condition, and avoid making changes to your health regimen based solely on genetic data found in public databases.
How common is this variant?
The variant is common, with a minor allele frequency of approximately 0.35 in European populations according to gnomAD data.
Frequently asked questions
Does having this variant mean I will get eczema?
No. Atopic dermatitis is a complex condition influenced by many genes and environmental factors. This variant is only one small piece of a much larger puzzle and does not determine whether you will develop the condition.
Can I use this SNP to diagnose atopic dermatitis?
No. Genetic variants are not used for the clinical diagnosis of eczema. Diagnosis is based on clinical symptoms and a physical examination by a healthcare professional.
Is this variant considered a mutation?
In genetics, this is classified as a common variant or polymorphism rather than a rare mutation. It is found in a large percentage of the healthy population.
Should I change my skincare routine based on this result?
No. You should not change your medical or skincare routine based on genetic data. Consult a dermatologist for personalized advice on managing your skin health.
Sources & further reading
Educational information only, last refreshed 10/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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A variant in the EMSY-LRRC32 cluster showing genome-wide significant association with clinically confirmed food allergy and allergic rhinitis.
Significant variant mapping to the EMSY-LRRC32 region implicated in epigenetic regulation and mucosal barrier sensitization in food allergy.