MASP2 rs41307788: What Your Genotype Means
The rs41307788 variant is a missense genetic change located within the MASP2 gene. It has been identified in genome-wide association studies as a potential marker for variations in the activity of the lectin pathway, a component of the human immune system.
What each genotype means
Typical lectin pathway activity
This genotype represents the most common genetic configuration for this position in the MASP2 gene. Research into this variant is currently limited, and there is no established clinical consensus on how this specific genotype influences lectin pathway function or overall health. As evidence is limited, this result should not be used to infer disease risk or immune status.
This is the most frequent genotype observed across most global populations.
Potential lectin pathway marker
Carrying one copy of the G allele at this position has been identified in some studies as a potential marker for variations in lectin pathway activity. Because the evidence for this association is currently limited and conflicting, it is unclear if this genotype has any meaningful impact on your immune system or health. This finding is not a diagnostic indicator and should be viewed as a subject of ongoing scientific research.
This genotype is found at low frequencies in many populations and is notably less common in individuals of European ancestry.
Potential lectin pathway marker
Carrying two copies of the G allele is a rare genetic configuration for this variant. While this position in the MASP2 gene is studied for its potential role in lectin pathway activity, the current scientific evidence is limited and conflicting regarding its functional consequences. There is no established clinical significance for this genotype, and it should not be used to make health-related decisions.
This genotype is very rare and is observed at low frequencies across most ancestral backgrounds.
Understanding the rs41307788 Variant
The rs41307788 variant is a single nucleotide polymorphism (SNP) situated on chromosome 1 at position 11,045,485. In genetics, a missense variant means that the change in the DNA sequence results in a different amino acid being incorporated into the protein structure. This specific variant is located within the MASP2 gene, which provides instructions for creating the mannan-binding lectin-associated serine protease 2 enzyme. Because this variant alters the genetic code, researchers investigate whether it influences the structure or function of the resulting protein. While it is cataloged in genomic databases, it is important to note that the functional consequences of this specific missense change are still being explored by the scientific community, and its presence does not inherently indicate a health condition.
The Role of the MASP2 Gene
The MASP2 gene encodes a critical enzyme involved in the lectin pathway of the complement system. The complement system is a vital part of the innate immune response, acting as a first line of defense against pathogens like bacteria and viruses. When mannan-binding lectin or ficolins bind to carbohydrate structures on the surface of a microorganism, MASP-2 is activated. Once active, this enzyme cleaves other complement proteins, such as C4 and C2, to initiate a cascade that leads to the destruction of the invader. Because MASP-2 is essential for this activation process, variations in the MASP2 gene are of interest to immunologists studying how different individuals might respond to infections or manage inflammatory processes. The gene is located on the short arm of chromosome 1, a region frequently studied in the context of immune-related traits.
Research and Evidence Strength
Current evidence linking rs41307788 to specific clinical outcomes is considered limited. While the GWAS Catalog identifies this variant in association studies, these findings often represent statistical correlations rather than direct causation. Research into MASP2 polymorphisms has historically focused on how different variants affect the levels or activity of the MASP-2 enzyme in the blood. Some studies have suggested that certain MASP2 variants may influence susceptibility to inflammatory conditions or infections, but these associations can be complex and are not always consistent across different study populations. Because the evidence for rs41307788 is not yet robust, it is categorized as a potential marker rather than a definitive diagnostic tool. Further research is required to determine if this specific variant has a measurable impact on immune system function in real-world settings.
Interpreting Your Information
If you have received information about your genotype for rs41307788, it is important to view it within the context of current scientific uncertainty. Genetic variants are common, and most do not have a significant impact on your daily health. This information is intended for educational purposes and should not be used to make medical decisions or to diagnose any condition. If you have concerns about your immune health, susceptibility to infections, or inflammatory symptoms, you should consult with a qualified healthcare professional. They can provide context based on your personal medical history, family history, and clinical symptoms. Never use genetic data to alter medications or treatment plans without direct guidance from your clinician or pharmacist, as they are the only ones qualified to interpret how your genetic profile might interact with your specific health needs.
How common is this variant?
The rs41307788 variant is characterized by a low frequency in non-European populations, making it a rare finding in many global genetic datasets.
Frequently asked questions
What does a missense variant mean?
A missense variant is a type of genetic change where a single DNA letter is swapped for another, causing the cell to use a different amino acid when building a protein. This can sometimes change how the protein functions, though many such changes have no noticeable effect.
Is rs41307788 associated with a specific disease?
Current research does not link rs41307788 to any specific disease diagnosis. While it is studied as a marker for lectin pathway activity, the evidence is limited and does not support using this variant to predict health outcomes.
Should I be worried if I have the rare genotype?
No, having a rare genotype for this variant is not a cause for concern. Most genetic variations are normal human diversity and do not translate into clinical health issues.
Can I use this information to change my diet or supplements?
No, you should not use genetic information to make changes to your diet or supplement regimen. Always consult with a healthcare provider before making changes to your health routine.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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An intergenic variant near the MASP2 and SRM genes that has been linked to immune-related trait associations in multi-ancestry GWAS meta-analyses.
This missense variant in the MASP2 gene is associated with variations in lectin pathway function, which shows significant ancestral diversity in population-specific immune responses.