MTHFR Studies

Peer-reviewed article linking MTHFR mutation to smallpox vaccine reactions.

The data demonstrate that 677C T polymorphisms, whether homozygous or heterozygous, are significantly associated with ASD. Those with two copies of the MTHFR 677C mutation had a 50% decrease in enzymatic activity while those with only one copy had a 30% decrease. The data support the hypothesis that ASD syndromes are associated with single nucleotide mutations of the MTHFR gene in some cases. Notably, only 2% of children with ASD in our study presented without at least one polymorphism in the MTHFR gene.

Genetics Home Reference: MTHFR

MTHFR Polymorphism, Homocysteine and Cardiovascular Disease

MTHFR and Neural Tube Defects

Cardiovascular Disease