The objective of this study was to investigate whether polymorphisms of genes that are involved in one-carbon metabolism (dihydrofolate reductase, methionine synthase reductase, methylenetetrahydrofolate reductase, reduced folate carrier 1 and transcobalamin II) influence DNA methylation in 106 patients with alcoholism. In the multivariate model no genotype showed significant effects on DNA met...

Effective supplementation with folate, which prevents neural tube defect (NTD) occurrence, and high homocysteine levels in the blood of NTD children's mothers suggest that genes involved in folate and homocysteine metabolism can be involved in NTD aetiology. Genes encoding methylenetetrahydrofolate reductase (MTHFR) or methylenetetrahydrofolate dehydrogenase (MTHFD) belong to the first group. G...

AIM One of the main problems concerning repeated spontaneous miscarriage (RSM) is the etiological diagnosis. The relation of thrombophilia to RSM is a matter of debate. In this case-control study, we determined the percentages of three thrombophilic mutations (factor V leiden, prothrombin, and methylenetetrahydrofolate reductase) amongst 20 cases with RSM and 20 control normal parous women. R...

Methylenetetrahydrofolate reductase catalyzes the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, which serves as the methyl donor for the conversion of homocysteine to methionine in the reaction catalyzed by methionine synthase. Recent studies have provided evidence for association of a common polymorphism of methylenetetrahydrofolate reductase with elevated levels of blood h...

Decrease in the activity of methylenetetrahydrofolate reductase (MTHFR) increases level homocysteine. MTHFR C677T gene polymorphism has been reported as a well-known cause elevated homocysteine associated with cerebral venous sinus thrombosis (CVST). A 34-year-old male was admitted severe headache after generalized seizure. Brain magnetic resonance venography showed thrombus superior sagittal s...

important genetic-environmental interaction. Blood 91:4158, 1998 2. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R: Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93:7, 1996 3. Verhoef P, Kok FJ, Kluijtmans LAJ, Blom HJ, Refsum H, Ueland PM, Kruyssen DACM:...

important genetic-environmental interaction. Blood 91:4158, 1998 2. Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R: Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93:7, 1996 3. Verhoef P, Kok FJ, Kluijtmans LAJ, Blom HJ, Refsum H, Ueland PM, Kruyssen DACM:...

AIM To assess the association between ABO blood group genotypes and genetic risk factors for thrombosis (FV Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations) in the Croatian population and to determine whether genetic predisposition to thrombotic risk is higher in non-OO blood group genotypes than in OO blood group genotypes. METHODS The study included 154 ...