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Scientific Literature & Resources

This is a reference page of scientific literature for more technical purposes and full disclosure of medical information on this subject. The literature on MTHFR genetic research and its clinical impact is always expanding. Below is a non-exhaustive resource list of MTHFR medical literature.

 

MTHFR & High Homocysteine levels

 

MTHFR & Heart Health

  • Quantitative assessment of the association between MTHFR C677T polymorphism and hemorrhagic stroke risk. PubMed ID: 23184002
  • Synergistic effect of MTHFR C677T and F2 G20210A polymorphisms on ischemic stroke. PubMed ID: 24132798

  • A meta-analysis of the relationship between MTHFR gene A1298C polymorphism and the risk of adult stroke. PubMed ID: 25472665

  • Association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and essential hypertension: a systematic review and meta-analysis. PubMed ID: 25458833

  • Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta-analysis. PubMed ID: 19157768

 

MTHFR & Metabolic Function

  • MTHFR 677C/T and 1298A/C mutations and non-alcoholic fatty liver disease. PubMed ID: 26031974

  • Association of methylenetetrahydrofolate reductase gene C677T polymorphism with polycystic ovary syndrome risk: a systematic review and meta-analysis update. PubMed ID: 24192663

 

MTHFR & Mental Health

  • Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. PubMed ID: 17074966

  • Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis. PubMed ID: 16172608
  • Association between MTHFR C677T polymorphism and depression: An updated meta-analysis of 26 studies. PubMed ID: 23831680

  • The methylation, neurotransmitter, and antioxidant connections between folate and depression. PubMed ID: 18950248

  • MTHFR: Genetic variants, expression analysis and COMT interaction in major depressive disorder. PubMed ID: 26021967

  • The one-carbon-cycle and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in recurrent major depressive disorder; influence of antidepressant use and depressive state? PubMed ID: 25012419

  • Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and susceptibility to Parkinson's disease: a meta-analysis. PubMed ID: 24064257

 

MTHFR & Development

  • A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?  PubMed ID: 9545395

  • Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency. PubMed ID: 24726568

  • MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. PubMed ID: 16489479

 

MTHFR & ADHD

 

MTHFR & Autism

  • The MTHFR 677C-->T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.  PubMed ID: 19455642
  • Metabolic biomarkers of increased oxidative stress and impaired methylation capacity in children with autism. PubMed ID: 15585776
  • Efficacy of methylcobalamin and folinic acid treatment on glutathione redox status in children with autism. PubMed ID: 19056591