• Increased genomic DNA methylation (increased amount of genes turned “off”) (T) [R].

  • Reduced activity of the enzyme MTHFR, responsible for the creation and repair of DNA (G) [R]

The Minor "G" allele is associated with:

  • Increased risk of cleft palate (the study was done in Chinese population) [R].

  • Decreased chance of developing hepatocellular carcinoma  (liver cancer) [R].

  • Increased risk of postmenopausal breast cancer [R].

  • Elevated homocysteine levels and an increased risk of placental vasculopathy [R].

  • Increased risk of malignant tumors [R].

  • Decreased risk of acute lymphoblastic leukemia in adults and children [R].

  • Increased levels of Homocysteine, an indicator of Alzheimer’s disease (GG) [R].

  • Improved survival of patients with End-Stage Kidney Disease [R].

  • Better response to MTX drug used to treat the Rheumatoid Arthritis [R].

  • Increase in weight and glucose levels when taking second-generation antipsychotics to treat schizophrenia [R].

  • Positively associated with power-based athletes [R].

The Major "T" allele was associated with:

  • Increased risk of breast cancer with dietary folate intake (TT) [R].

  • 2.5 fold reduction in risk of acute lymphoblastic leukemia in children with TT and the 677AA gene [R].

  • Increased risk of brain cancer, meningioma, and glioma [R].

  • Higher risk of grade 2 and grade 3 Radiation Pneumonitis when treating lung cancer with Thoracic Radiation therapy [R].

This SNP is associated with (unknown which allele):

  • Vascular Disease [R].


Parent Gene: MTHFR

Importance: 5
Less common allele: G = 25%
More common allele: T = 75%
My Genotype: Log In
Risk Allele: C
Significance: drug response