The MTHFR gene codes for an enzyme known as methylenetetrahydrofolate reductase or MTHFR. This enzyme is very important for the production of DNA and methylation pathways that are essential for all bodily functions [R]. Genetic variations in the MTHFR gene results in reduced activity of the enzyme produced and have been associated with a series of diseases and conditions, including cardiovascular disorders, neurological defects, some forms of cancer, psychiatric disorders, diabetes, and pregnancy complications [R, R2].
Interpreting your MTHFR gene SNPs
The two most important SNPs you should look for are rs1801131 and rs1801133 .
Ofthe two, rs1801133 is more important.
1. First, take a look at your genotype for rs1801133:
- MTHFR CC677 (rs1801133) or GG is normal
- MTHFR C677T (rs1801133) or AG may reduce MTHFR function by 30% maximum (not so bad)
- MTHFR 677TT (rs1801133) or AA may reduce MTHFR function by up to 70% maximum (bad)
So if you see "AA" in your file, this means your MTHFR enzyme activity is more likely not to function as well. AG means it still may not function as well, but the chances are lower. And finally, GG is the normal version and doesn't impact this enzyme.
2. Next, take a look at rs1801131. This SNP has less of an effect on MTHFR function, but can still be useful to look at. For this SNP:
- MTHFR AA1298 (rs1801131) or TT is normal
- MTHFR A1298C (rs1801131) or GT may slightly reduce MTHFR activity (not so bad)
- MTHFR 1298CC (rs1801131) or GG may reduce MTHFR activity more (bad)
For this SNP, GG could be the worst combination, but still doesn't have a large influence overall.
To get a complete picture, look at your genotype for these SNPs together. If you have the "bad" genotype for both, the chances are higher that your MTHFR enzyme will not work as well. The MTHFR 677TT/ rs1801133 AA and MTHFR 1298CC/rs1801131 GG combination can decrease MTHFR function the most.
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