What is an MTHFR mutation report?
The methylenetetrahydrofolate reductase (MTHFR) mutation report provides information about the common polymorphisms in the MTHFR gene, which are associated with increased levels of homocysteine in the blood.
What is an MTHFR mutation?
MTHFR is a gene that codes for the enzyme called methylenetetrahydrofolate reductase (MTHFR). This enzyme is responsible for the conversion of inactive folate to active folate. A variation in this gene in some people can disrupt this conversion and lead to various health problems.
What are the symptoms of MTHFR polymorphism?
Some signs of MTHFR polymorphisms are cardiovascular and thromboembolic diseases, anxiety, bipolar disorder, colon cancer, and chronic pain.
Are all MTHFR mutations important?
Not all MTHFR gene variations are associated with significant MTHFR enzyme activity. There are two important MTHFR SNPs, rs1801133 and rs1801131, associated with the MTHFR enzyme activity. These variations affect approximately 1 in 4 people significantly and about 1 in 2 people mildly.
Where is my result provided in the report?
Information about the variant of these two highly significant genes is present in the table titled “Prominent MTHFR SNPs.”
What is my likely MTHFR enzyme activity based on my MTHFR SNPs?
The MTHFR enzyme activity is provided as a bar diagram below the table titled Prominent MTHFR SNPs. It is based on the two prominent SNPs.
What about the other MTHFR SNPs mentioned in the report?
Apart from the two important MTHFR SNPs, there are other variations in the MTHFR gene which are associated, in varying degrees, with MTHFR enzyme activity. Information about these SNPs is included in the table titled “Other MTHFR SNPs.”
How should the table titled “Other MTHFR SNPs” be interpreted?
The presence of a large number of homozygous (2 risk variants- red color) of high ranking SNPs may be associated with lower enzymatic activity and higher homocysteine levels.
What does rank mean in the table titled ‘Other MTHFR SNPs’?
Certain SNPs are found to have a higher impact, and variations in these SNPs may have a greater impact on health. The ‘Rank’ is indicated as ‘high,’ ‘medium, and ‘low’ depending on the potential impact. Please bear in mind that the Rank is a theoretical value and not experimentally verified.
Why are certain SNPs marked in red?
The column ‘normal’ (e.g., C) is the variant associated with normal enzyme activity, while the column ‘risk’ (A) is the variant associated with reduced enzyme activity. ‘Geno’ refers to your genotype.
- If you carry two risk variants (e.g., AA) for that SNP, then it is marked in red.
- If you carry one risk variant (e.g., AC) for that SNP, then it is marked in yellow.
- If you carry two normal variants (e.g., CC) for that SNP, then it is marked in white.
Disclaimer: As always, please bear in mind that human traits are a result of complex interactions between multiple genes and multiple environmental factors. The findings presented in this report are of a preliminary nature and are not considered clinically- or medically- actionable.
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