MASP2 rs2273347: Understanding This Genetic Variant
The rs2273347 variant is a common genetic change located in an intergenic region near the MASP2 and SRM genes. It has been identified in large-scale genome-wide association studies (GWAS) as being linked to various immune-related traits.
What each genotype means
Typical immune-related trait profile
This genotype represents the homozygous state for the common allele at this location. Research indicates this variant is located in an intergenic region near the MASP2 gene, which is involved in the lectin pathway of the immune system. Current evidence is limited, and while this variant has been identified in multi-ancestry GWAS meta-analyses as having potential immune-related trait associations, it is not considered a diagnostic marker for any specific condition.
This is a common genotype found across diverse global populations.
Typical immune-related trait profile
This genotype represents the heterozygous state for this variant. As with the homozygous states, this variant is associated with immune-related traits in broad GWAS studies, but the functional impact of this specific change remains unclear. There is no evidence to suggest this genotype requires clinical intervention or specific health monitoring.
This is a common genotype found across diverse global populations.
Typical immune-related trait profile
This genotype represents the homozygous state for the alternative allele at this location. While this variant is cataloged in GWAS studies for its association with immune-related traits, the evidence strength is currently limited. It is important to view these findings as statistical associations observed in large populations rather than individual health predictions.
This is a common genotype found across diverse global populations.
What is rs2273347?
The rs2273347 variant is a single nucleotide polymorphism (SNP) located on chromosome 1. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is classified as intergenic, meaning it resides in the DNA sequence between two protein-coding genes: MASP2 and SRM. Because it is not located within the coding region of a gene, it does not directly alter the sequence of a protein. Instead, researchers study such variants to determine if they influence how nearby genes are regulated or expressed. The location of this SNP, 1p36.22, is a region of interest in human genomics due to its proximity to genes involved in critical biological pathways, particularly those related to the immune system.
The Role of the MASP2 Gene
The MASP2 gene encodes the Mannan-binding lectin serine protease 2 protein. This protein is a vital component of the lectin pathway, which is a part of the body's complement system. The complement system is a complex network of proteins that functions as a key pillar of the innate immune response. When activated, the lectin pathway helps the body identify and eliminate pathogens, such as bacteria and viruses, by triggering a cascade of reactions that lead to phagocytosis, or the engulfment of foreign particles by immune cells. Because MASP2 is essential for this defense mechanism, variations in or near this gene are frequently investigated to understand how they might influence individual differences in immune system function and susceptibility to inflammatory or infectious conditions.
Research and Evidence Strength
The association between rs2273347 and various traits has been documented in the GWAS Catalog, a curated database of genome-wide association studies. While this variant appears in multiple studies, the evidence linking it to specific clinical outcomes is currently considered limited. GWAS findings identify statistical correlations between a genetic variant and a trait across large populations, but these associations do not necessarily imply a direct cause-and-effect relationship. Often, an intergenic SNP like rs2273347 may simply be a marker that is inherited alongside other functional variants in the region. Because the evidence is based on meta-analyses of diverse populations, the strength of the association can vary depending on the specific trait being studied and the ancestry of the participants involved. Further functional research is required to clarify the biological impact of this variant.
What You Can Do With This Information
It is important to understand that genetic data regarding variants like rs2273347 is primarily used for scientific research and population-level studies. This information is not intended for medical diagnosis, risk prediction, or personal health management. Because the association between this variant and immune-related traits is based on statistical correlations rather than definitive clinical evidence, it cannot be used to predict an individual's health status. If you have questions about your immune health or concerns about specific symptoms, the most appropriate course of action is to consult with a qualified healthcare professional. They can provide personalized guidance based on your medical history, physical examinations, and validated clinical tests. Always avoid making health decisions based solely on genetic data found in public databases or research reports.
How common is this variant?
The rs2273347 variant is common across diverse global populations, with the A and G alleles appearing at varying frequencies depending on ancestral background.
Frequently asked questions
Is rs2273347 a disease-causing mutation?
No, rs2273347 is a common genetic variant identified in association studies, not a rare mutation known to cause a specific Mendelian disease. It is considered a marker that has been statistically linked to certain traits in large-scale research.
Can I use this SNP to predict my immune health?
No, you cannot use this SNP to predict your immune health. The associations found in GWAS are statistical in nature and do not provide individual-level diagnostic or predictive information.
What does 'intergenic' mean for this variant?
Intergenic means the variant is located in the DNA sequence between two genes, rather than inside a gene. This suggests it may play a role in gene regulation, though its specific function is still being studied.
Where can I find more information on MASP2?
You can find reliable information about the MASP2 gene and its function in the immune system through resources like the NCBI Gene database or UniProt. These platforms provide detailed summaries of gene function and protein roles.
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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A missense variant in MASP2 identified in recent GWAS studies as a potential marker for lectin pathway activity differences across diverse ancestral backgrounds.
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.