Hyperhomocysteinemia is a defined risk factor for venous thromboembolism (VTE). Several polymorphisms of genes encoding for enzymes acting in the remethylation pathway of homocysteine metabolism, ie, methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C, can cause increased homocysteine levels particularly in patients with deficiencies of folic acid...

Hypertension, defined as a systolic/diastolic blood pressure of 140/90 mmHg or greater, is estimated to carry a three-fold increased risk of developing cardiovascular diseases (CVDs). Evidence from genome-wide association studies has identified an association between blood pressure and the gene encoding the folate-metabolising enzyme, methylenetetrahydrofolate reductase (MTHFR). Recent meta-ana...

Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides needed for DNA synthesis and repair. Variations in MTHFR functions likely play roles in the etiology of lung cancer. The MTHFR gene has three nonsynonymous single nucleotide polymorphisms (i.e., C677T, A1298C, and G1793A) that have a minor allele frequency of >5%. We investigated the associations betw...

This corrects the article "Neurological Manifestations of MTHFR-related Hyperhomocysteinemia" in volume 41 on page 68.

BACKGROUND Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects. This study aimed to determine the association of these polymorphisms in patients with isolated PDA and in non-PDA patients group without congenital heart disease. METHODS This retrospective case-controlled study was...

Attention-deficit/hyperactivity disorder (ADHD) is a common, multifactorial genetic disorder. The aim of the present study was to evaluate a possible association between 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and ADHD. There is evidence to suggest that MTHFR C677T and A1298C polymorphisms alter the function of the enzyme, causing reduced folate and increased homocys...

Daugėlaitė K. and D. Serapinas (2015): The importance of mthfr gene mutation detection in patient with recurrent miscarriagesGenetika, Vol 47, No. 2, 609-616. Homocysteine is an enzyme encoded by MTHFR (methylenetetrahydrofolate reductase) gene located on chromosome 1. Mutations in MTHFR gene may result in the afflicted metabolism of homocysteine and thus might increase the risk of recurrent mi...

BACKGROUND Although single nucleotide polymorphisms may be potentially important pharmacogenetic determinants of cancer therapy, functional evidence regarding their relevance is currently lacking. The C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with changes in cellular composition of folates. We hypothesized that this polymorphism may modulate the cy...

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disease included in the group of homocysteine remethylation disorders. The MTHFR catalyzes the irreversible conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. Besides the well-known association of thrombophilic defects with MTHFR variants and elevated homocysteine, few patients with MTHFR...