ADAMTS13 rs36222275: What Your Genotype Means
The rs36222275 variant is a common genetic marker located within the ADAMTS13 gene. Research has investigated its potential association with variations in ADAMTS13 enzyme activity levels, which are critical for regulating blood clotting processes.
What each genotype means
Typical enzyme activity levels
This genotype represents the most common sequence for this variant in many populations. Research indicates that individuals with this genotype generally maintain typical ADAMTS13 enzyme function, which supports healthy regulation of blood clotting and microvascular integrity.
This is the most common genotype observed across most global populations.
Potential for altered activity
Carrying one copy of the T allele has been statistically associated in some studies with variations in ADAMTS13 enzyme activity levels. While this is generally not linked to clinical disease, it may correlate with minor differences in how your body regulates von Willebrand factor and microvascular health.
This genotype is found in a significant portion of the population, though specific frequency varies by ancestry.
Potential for reduced activity
This genotype is associated with a greater statistical likelihood of having lower ADAMTS13 activity levels compared to those with the CC genotype. While these findings are based on population-wide genetic associations rather than individual diagnosis, it suggests a profile that may deserve attention regarding vascular health. If you have concerns about clotting, vascular health, or skin-related microcirculation, please discuss these results with your clinician or pharmacist.
This is a less common genotype, typically occurring at a lower frequency than the CC or CT genotypes in most populations.
Understanding the rs36222275 Variant
The rs36222275 variant is a single nucleotide polymorphism (SNP) situated on chromosome 9 within the ADAMTS13 gene. In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. This specific variant is cataloged in major databases like dbSNP and has been the subject of scientific inquiry regarding its influence on gene expression and protein function. Because it is located within a gene that encodes a vital enzyme, researchers often study such variants to determine if they correlate with measurable differences in biological traits or susceptibility to certain conditions. It is important to note that the presence of a variant does not inherently imply a health issue; rather, it is a natural point of genetic diversity found across human populations.
The Role of the ADAMTS13 Gene
The ADAMTS13 gene provides the blueprint for the ADAMTS13 enzyme, a zinc-containing metalloprotease that circulates in the blood. Its primary function is to regulate the size of von Willebrand factor (VWF), a large protein essential for blood clotting. Under normal conditions, VWF helps platelets adhere to damaged vessel walls to form temporary clots. However, if VWF multimers become too large, they can trigger excessive clotting in the microvasculature. The ADAMTS13 enzyme acts as a molecular 'scissors,' cleaving these large VWF multimers into smaller, manageable pieces. By maintaining this balance, the enzyme prevents the formation of dangerous, spontaneous clots in the circulation. Proper regulation of this process is vital for vascular health, and significant deficiencies in this enzyme are linked to rare, severe conditions like thrombotic thrombocytopenic purpura (TTP).
Research Associations and Evidence
Scientific research has explored whether common variants in the ADAMTS13 gene, including rs36222275, influence the activity levels of the ADAMTS13 enzyme. Some studies have suggested that certain polymorphisms within the coding or regulatory regions of this gene may act as modifiers of enzyme activity. While some variants are known to cause severe loss-of-function, the evidence for rs36222275 is generally considered to be of moderate strength regarding its functional impact. It is essential to distinguish between rare, pathogenic mutations that cause disease and common variants that may only slightly shift physiological baselines. Current literature indicates that while genetic background contributes to enzyme activity, environmental factors and other genetic modifiers also play significant roles. As such, this variant is not typically used as a standalone diagnostic tool for clinical conditions.
What You Can Do With This Information
Genetic information regarding variants like rs36222275 is primarily educational and intended to provide insight into your biological makeup. It is important to understand that this information cannot be used to diagnose medical conditions or predict specific health outcomes. If you have concerns about your cardiovascular health, blood clotting, or skin health, you should consult with a qualified healthcare professional. They can provide context based on your personal medical history, physical examinations, and standard clinical laboratory tests. Never make changes to your health regimen or medication based on genetic data without professional guidance. Genetic research is an evolving field, and while variants like rs36222275 offer interesting data points for scientists, they are only one piece of a much larger, complex puzzle that determines individual health.
How common is this variant?
The rs36222275 variant is documented as a common polymorphism, meaning it appears frequently across various global ancestral populations.
Frequently asked questions
Is rs36222275 associated with a specific disease?
While the ADAMTS13 gene is linked to conditions like thrombotic thrombocytopenic purpura (TTP), rs36222275 is a common variant and is not considered a primary cause of such rare, severe disorders.
Does this variant affect my skin health?
Some research explores links between ADAMTS13 and dermal microvasculature, but there is no definitive evidence that this specific SNP significantly impacts skin health or photo-aging in the general population.
Should I get tested for this variant?
There is no clinical necessity to test for this variant. It is typically identified through broad genomic screening, and the results do not currently change standard medical care.
Can I change my ADAMTS13 activity levels?
ADAMTS13 activity is largely determined by genetics and underlying health status. If you have concerns about blood clotting, consult a doctor for appropriate clinical testing rather than relying on genetic variant data.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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