MTHFR Mutation Research

Section A1: MTHFR C677T Mutations

• Hypertension in Homozygous C677T MTHFR Individuals: Reduction in Systolic and Diastolic Blood Pressure using Riboflavin

• Down’s Syndrome Etiology Linked to Mothers with MTHFR C677T Polymorphisms

• Down’s Syndrome Etiology Linked to Mothers with MTHFR C667T, MTHFR A1298C, MTR and RFCI

• Methotrexate Toxicity in Individuals with C677T MTHFR Polymorphisms

• Breast Cancer Risk with BRCA Mutation Combined with MTHFR C677T and/or MTR A2756G Variants: Weak Trend

• Deep Venous Thrombosis in Post-Operative Individuals with Homozygous C677T MTHFR Polymorphisms

• Colon Cancer Risk Increase with Homozygous C677T Polymorphisms

• Colon Cancer Risk Reduction in those with Homozygous C677T when supplemented with methyl donors.

• Nitrous Oxide Increases Homocysteine Significantly in those with Homozygous C677T MTHFR Mutations

• Atrial Fibrillation Risk Increases with MTHFR C677T MTHFR Mutation and Elevated Homocysteine Levels

• Epilepsy: Prevalence of Homozygous MTHFR C677T MTHFR Mutations

• Infertility in MTHFR-Deficient Male Mice Is Partially Alleviated by Lifetime Dietary Betaine Supplementation

• Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta-analysis

• Migraines and C677T MTHFR

Section B: MTHFR A1298C Mutations

• ADHD in A1298C MTHFR Polymorphisms: Possible Relationship

• Infertility in Homozygous A1298C MTHFR Polymorphisms: Idiopathic Indian Male Infertility

• Rheumatoid Arthritis + MTHFR A1298C Polymorphisms Predispose Individuals to Increased Cardiovascular Risk

• Turner Syndrome and Homozygous A1298C Polymorphisms: Linked

• Elevated Homocysteine in Homozygous A1298C MTHFR Polymorphisms: Indirect Finding (page 38)

Section C: Compound Heterozygous MTHFR Mutations

• Congential Heart Disease and Compound Heterozygous MTHFR Mothers: Increase in Newborns with Congential Heart Disease

• Deep Venous Thrombosis Risk in Post-Operative Individuals: Increased Risk in Compound Heterozygous MTHFR Individuals

• Meningioma and Glioma Incidence Associated with MTHFR Compound Heterozgyous Polymorphisms (and in MTRR 66G)

• Association of Polymorphisms in One-Carbon Metabolism Genes and Postmenopausal Breast Cancer Incidence