Going beyond MTHFR 677 and 1298
The MTHFR C677T and A1298C variants get a lot of press – from Facebook groups to whole websites that talk about them. (If you don’t know your status on those two, check out this page: MTHFR)
But MTHFR C677T and A1298C are not the whole picture for this gene. There are additional variants that also impact the functionality of the enzyme.
MTHFR is a key gene in regulating the body’s folate metabolism. The folate cycle interacts with the methylation cycle, supplying the body’s need for methyl groups.
Other MTHFR Genetic Variants:
Other variants that decrease MTHFR enzyme function:
Check your genetic data for rs2274976 G1793A or R594Q (23andMe v4, v5; AncestryDNA) known as :
- T/T: associated with cleft lip, OR 3.46 [ref] neural tube defect [ref], higher homocysteine, and folate deficiency [ref] increased risk of schizophrenia in children[ref][ref] cognitive issues possible for seniors with this genotype in conjunction with low vitamin B12[ref]
- C/T: somewhat increased risk of schizophrenia, cognitive issues possible for seniors with this genotype in conjunction with low vitamin B12[ref]
- C/C: typical
Variants that are associated with positive outcomes:
Check your genetic data for rs9651118 (23andMe v4; AncestryDNA):
- T/T: most common genotype; relatively higher homocysteine, higher risk of T2D [ref], [ref]
- C/T: decreased risk of liver cancer [ref] slower cognitive decline in elderly[ref]
- C/C: decreased risk of lung cancer [ref]
Check your genetic data for rs13306560 (23andMe v4; AncestryDNA):
- A/A: avg 5.2 mmHg lower diastolic blood pressure [ref] Protective against Parkinson’s[ref]
- A/G: avg 2.6 mmHg lower diastolic blood pressure
- C/C: common
Foods that are high in folate include: [ref]
- Beef liver
- Lentils, black-eyed peas
If you don’t eat enough folate-rich foods on a regular basis, methylfolate supplements are also available. The RDA for folate is 400 mcg/day for adults (600 mcg/day for pregnancy).