Normal allele: GG
A gene fragment known as MTHFR C677T, which encodes an enzyme involved in folic acid metabolism. A break in this gene fragment results in high levels of homocysteine, low levels of B12 and folic acid. If your tests show high homocysteine levels, your doctor will likely advise you on an appropriate diet and supplementation regime. Taking varieties of the active form of B9 methylfolate (5-MTHF or L-methyltetrahydrofolate), the active form of vitamin B12, methylcobalamin, is recommended to reduce your risks.
Polymorphism rs1801133 is related to topics like this:
MTHFR is an enzyme crucial for converting folic acid into an active form known as L-methylfolate,...
Many individuals carry MTHFR mutations without being aware of their MTHFR status, while only a...
The Genetic Methylation Check examines your DNA to offer insights into your unique methylation...
Research and publications :
Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
Homocysteine metabolism in pregnancies complicated by neural-tube defects
A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population
5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans
Molecular genetics of methylenetetrahydrofolate reductase deficiency
Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study
Differences in methylenetetrahydrofolate reductase genotype frequencies, between Whites and Blacks
Methylenetetrahydrofolate reductase gene and coronary artery disease
Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease
Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia
Myocardial infarction in young women in relation to plasma total homocysteine, folate, and a common variant in the methylenetetrahydrofolate reductase gene
Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects
Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations
Methionine synthase deficiency without megaloblastic anaemia
Worldwide distribution of a common methylenetetrahydrofolate reductase mutation
MTHFR association with arteriosclerotic vascular disease?
A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells
Genetic selection and folate intake during pregnancy
Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy
Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR)
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
Methylenetetrahydrofolate reductase thermolabile variant and oral clefts
The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group
Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and preeclampsia in Japanese women
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
The homozygous C677T mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for migraine
The frequency of the C677T substitution in the methylenetetrahydrofolate reductase gene in Manitoba
Pharmacogenetics of methotrexate: toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase C677T polymorphism
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans
MTRR and MTHFR polymorphism: link to Down syndrome?
Hyperhomocysteinemia, low folate status, homozygous C677T mutation of the methylene tetrahydrofolate reductase and renal arterial thrombosis
Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study
A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status
C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy
The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with retinal artery occlusion
Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors
Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population
Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis
Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome
Implications on human fertility of the 677C-->T and 1298A-->C polymorphisms of the MTHFR gene: consequences of a possible genetic selection
Measurement of red blood cell methylfolate
Lack of association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece
A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth D
MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis
Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for a survival advantage
Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult
Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis
Preponderance of methylenetetrahydrofolate reductase C677T homozygosity among leukemia patients intolerant to methotrexate
Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies
Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis
Folate, vitamin B12, homocysteine, and the MTHFR 677C->T polymorphism in anxiety and depression: the Hordaland Homocysteine Study
Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia
Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia
Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases
Predictors of oral mucositis in patients receiving hematopoietic cell transplants for chronic myelogenous leukemia
Maternal MTHFR interacts with offspring BCL3 genotypes, but not with TGFA, to increase the risk of nonsyndromic cleft lip with or without cleft palate.
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
MTHFR T677 homozygosis influences the presence of aura in migraineurs
5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls
Does "race" matter in the genetic control of disease?
Equal proportion of adult male and female homozygous for the 677C --> T mutation in the methylenetetrahydrofolate reductase polymorphism
A meta-analysis of the MTHFR C677T polymorphism and schizophrenia risk
Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia
Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control study
C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma
Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL
No evidence of association of methylenetetrahydrofolate reductase polymorphism with occurrence of second neoplasms after treatment of childhood leukemia
Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis
Migraine and MTHFR C677T genotype in a population-based sample
A heat-labile variant of MTHFR is associated with depression in the British Heart and Women's Health Study and meta-analysis.
Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma
MTHFR 677 (C-->T) polymorphism is not relevant for prognosis or therapy-associated toxicity in pediatric NHL: results from 484 patients of multicenter trial NHL-BFM 95
Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China
Methylenetetrahydrofolate reductase and thymidylate synthase genotypes modify oral mucositis severity following hematopoietic stem cell transplantation
Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population
MTHFR C677T polymorphism and migraine with aura
Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions
Comparison of PrASE and Pyrosequencing for SNP Genotyping
MTHFR polymorphism and bone mineral density: meta-analysis of published studies
Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study
Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma
Modulation of the homocysteine-betaine relationship by methylenetetrahydrofolate reductase 677 C->t genotypes and B-vitamin status in a large-scale epidemiological study
Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women
Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia
MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer
Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada
The methylenetetrahydrofolate reductase 677C-->T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism
Methylenetetrahydrofolate reductase gene variants C677T and A1298C in adult patients with non-Hodgkin's lymphoma: association with toxicity and survival
Impact of MTHFR polymorphism on outcome and toxicity in patients with acute lymphoblastic leukemia
Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia
