| Possibly impaired folate metabolism |
| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
most common genotype
|
| (A;C)
|
2.1
|
Possibly impaired folate metabolism
|
| (C;C)
|
2.5
|
Number of risks. Complex.
|
MTHFR rs1801131 (C) or MTHFR A1298C is a mutation in the folate pathway, specifically in the enzyme involved in converting 5-methylfolate (5MTHF) to tetrahydrofolate (THF). Defects in folate metabolism can increase the risk of neural tube defects and possibly contribute to risk of stroke / heart attack.
Unlike rs1801133 or MTHFR C677T, this mutation does not lead to elevated homocysteine levels, however some studies have suggested that there may be a synergistic effect in individuals heterozygous for both mutations. [PMID 9719624]
