ALOX5 rs2228065: Understanding This Genetic Variant
The rs2228065 variant is a specific change in the ALOX5 gene, which provides instructions for an enzyme involved in inflammation. Research has explored its potential role in modulating inflammatory responses and its association with various health traits.
What each genotype means
Typical ALOX5 enzyme profile
This genotype represents the most common form of the ALOX5 gene in many populations. Research indicates that individuals with this profile generally maintain standard baseline levels of leukotriene production, though inflammatory responses can still be influenced by other genetic and environmental factors. Please discuss any concerns regarding inflammatory health or medication responses with your healthcare provider.
This is the most common genotype observed across most global populations.
ALOX5 variant carrier
You carry one copy of the A allele, which is a non-synonymous variant in the ALOX5 gene. Studies have investigated this variant for potential associations with inflammatory pathways and cardiovascular health, though findings remain complex and context-dependent. As this gene is involved in the production of inflammatory mediators, consult with your clinician if you are managing chronic inflammatory conditions or discussing specific anti-inflammatory therapies.
This genotype is relatively uncommon, with the A allele occurring at a frequency of approximately 0.004 in some studied populations.
ALOX5 variant homozygous
You carry two copies of the A allele for this variant. While this specific change in the ALOX5 gene has been identified in research, its clinical significance is still being explored in the context of inflammatory responses. Because this gene plays a role in the leukotriene pathway, you should discuss your overall inflammatory health profile and any relevant medication management with your doctor or pharmacist.
This genotype is rare in most populations due to the low frequency of the A allele.
What is rs2228065?
The variant rs2228065 is a single-nucleotide polymorphism (SNP) located within the ALOX5 gene. In genetic terms, this variant represents a change where the DNA base guanine (G) is replaced by adenine (A). This specific alteration is a non-synonymous variant, meaning it results in a change to the amino acid sequence of the protein produced by the gene. Specifically, it causes a substitution of glutamic acid (E) for lysine (K) at position 254 of the protein, which is why it is sometimes referred to in scientific literature as E254K. Because it alters the protein's structure, researchers have investigated whether this change affects the enzyme's function or stability within the body.
The Role of the ALOX5 Gene
The ALOX5 gene encodes the enzyme arachidonate 5-lipoxygenase, commonly known as 5-LO. This enzyme plays a critical role in the human immune system by catalyzing the first steps in the biosynthesis of leukotrienes. Leukotrienes are potent lipid mediators that act as signaling molecules to promote inflammation, recruit immune cells to sites of injury, and regulate immune responses. While inflammation is a necessary defense mechanism for healing and fighting infection, dysregulation of the 5-LO pathway is often studied in the context of chronic inflammatory conditions. By converting arachidonic acid into these signaling molecules, the ALOX5 gene acts as a central switch in the inflammatory cascade, making it a frequent subject of study in immunology and cardiovascular research.
Research and Evidence
Scientific evidence regarding rs2228065 is considered moderate. Some studies have examined its potential association with inflammatory conditions, such as bronchial asthma, where researchers observed differences in genotype frequencies between affected individuals and control groups. Other research has looked at the broader ALOX5 gene in the context of cardiovascular health and diabetes, though findings are often mixed or specific to certain populations. It is important to note that many genetic associations with complex traits are influenced by multiple genes and environmental factors. Consequently, the presence of this variant does not guarantee a specific health outcome. Current research continues to evaluate how this variant might influence individual differences in inflammatory responses, particularly in relation to dietary factors or environmental triggers.
Population Frequency
The frequency of the rs2228065 variant is variable across different global populations. In many Caucasian populations, the minor allele frequency (MAF) is approximately 0.03, meaning it is relatively uncommon. Because genetic diversity varies significantly by ancestry, the prevalence of the A allele can differ substantially between groups. Researchers often account for these population-specific differences when conducting genetic studies to ensure that findings are not skewed by ancestry-related background noise. If you are interested in your own genetic profile, it is helpful to understand that population-level statistics provide a broad context but do not predict individual health outcomes.
What You Can Do With This Information
Genetic information like rs2228065 is best viewed as a piece of a much larger puzzle. Because the evidence linking this variant to specific health outcomes is moderate and often context-dependent, it should not be used to make medical decisions or self-diagnose. If you have concerns about inflammation, asthma, or your response to dietary changes, the most effective approach is to consult with a qualified healthcare provider. They can evaluate your symptoms, medical history, and lifestyle factors to provide personalized guidance. If you are taking medications related to inflammatory conditions, always discuss any questions about your treatment or dosing with your clinician or pharmacist. Genetic data is a tool for education and conversation, not a substitute for professional medical care.
How common is this variant?
The rs2228065 variant is relatively uncommon, with a minor allele frequency of approximately 0.03 in Caucasian populations, though frequencies vary significantly across different global ancestries.
Frequently asked questions
Is rs2228065 a cause of asthma?
Research has identified statistical associations between this variant and asthma in some studies, but it is not considered a direct cause. Asthma is a complex condition influenced by many genetic and environmental factors.
Does my genotype mean I have high inflammation?
No. A genetic variant alone does not determine your overall inflammatory state. Inflammation is regulated by many biological processes, lifestyle choices, and environmental exposures.
Should I change my diet based on this SNP?
There is no clinical evidence to support changing your diet based solely on this genetic variant. Always consult with a registered dietitian or your doctor before making significant changes to your nutrition.
Can I use this information to choose medication?
No. You should never use genetic information to select or adjust medications. Always discuss your treatment plan and any concerns about medication response with your clinician or pharmacist.
Sources & further reading
Educational information only, last refreshed 10/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This SNP is linked to cardiovascular disease prevention strategies and personalized nutritional approaches.
This polymorphism in the arachidonate 5-lipoxygenase gene is investigated for its potential influence on cardiovascular disease risk and dietary response.