Summary: The MTHFR genotype was not significantly more prevalent in patients than in controls, and markedly contributed to Moderate hyperhomocysteinemia. Total fasting plasma homocysteine was negatively correlated to folate and vitamin B12 levels. However, folate was similar in patients and controls and vitamin B12 was higher in patients.

Summary: Homocysteine concentrations were higher in persons carrying minor allele. The Mediterranean diet score was not significantly associated with homocysteine concentrations. However, after control for potential confounders, the stratified analysis showed that adherence to a Mediterranean diet was associated with reduced homocysteine concentrations in persons with the TT and CT genotypes but not in those with the CC genotype.

Summary: In the patient group there was a significant relationship between TT genotype and homocysteine concentration after we controlled for other risk factors. Controlling for serum folate weakened this relationship, and folate itself was independently related to serum homocysteine. There was no difference between patients and control subjects in either TT genotype frequency or T allele frequency. There was no association when analysis was limited to individuals deficient in folate or to younger individuals. There was no association between TT genotype and any stroke subtype or with degree of carotid stenosis.

Summary: Greater adherence to the Mediterranean diet was associated with lower ox-LDL concentrations only in MTHFR T-allele carriers, but not in CC homozygotes.

Summary: An inverse relationship was observed between changes in Total homocysteine and changes in the intake of beer in TT individuals but not in CC/CT individuals. In addition, changes in Total homocysteine were positively associated with changes in several biological risk factors, such as waist circumference, diastolic blood pressure, total cholesterol and LDL cholesterol (P<0.01). The association between waist circumference and MTHFR genotype seemed stronger in TT individuals than in CC/CT individuals.

Summary: In MTHFR C677T polymorphism, the amino acid alanine is changed to valine making this enzyme thermolabile. The homozygous variant (TT) reduces the enzyme activity by 68% thereby decreasing the conversion of methylene tetrahydrofolate to methyl tetrahydrofolate (a substrate that converts homocysteine to methionine), resulting in intracellular accumulation of homocysteine.

Summary: Supplementation with folic acid led to a significant reduction in tHcy levels. The mean tHcy changed from 12.14 to 10.42 micromol/l after supplementation (p<10* –5 ). Moreover, the change in tHcy levels was highly heritable (64%),not associated with the C677T functional variant at MTHFR and not confounded by age, BMI or diet. The results highlight the need to identify genetic factors associated with biomarkers of response to folate supplementation.

Summary: The findings support a role of methyl group availability as an underlying mechanism for an effect of folate on colorectal carcinogenesis. The protective effect of the homozygous variant TT form of the MTHFR genotype (C677T) on the risk of colorectal cancer seems to be modified by the level of methyl diets, that is, by folate, which has a protective effect, or conversely by alcohol.

Summary: Anthropometric, biochemical, and OS parameters, and antioxidant dietary intake data were assessed using validated procedures. Genotype of seven polymorphisms from genes involved in OS (pro-oxidant and antioxidant) were analyzed using the SNPlex system. The effects of polymorphism on promoter activity and thus thioredoxin (TXN) activity were examined using reporter assays

Summary: The MTHFR A1298C polymorphism is significantly associated with homocysteine levels, and that the CC genotype is present at a higher frequency in the Indian population, makes it extremely relevant in terms of its potential impact on hyperhomocysteinemia.

Summary: Individuals with CC genotype (homozygous for minor allele) have lower homocysteine levels than the AA genotype.Because the liver has a major role in homocysteine metabolism, this polymorphism could potentially play a vital role in maintaining the levels of homocysteine in circulation.