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SNP information rs1801133

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:

Vitamin B9 (folic acid)
Vitamin B12
Methylation and homocysteine


Research and publications:

  1522835   Recommendations for the use of folic acid to reduce the number of cases of spina bifida and other neural tube defects

  7564788   Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

  7647779   A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

  7741859   Homocysteine metabolism in pregnancies complicated by neural-tube defects

  8542260   A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects

  8554053   Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid

  8554066   Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

  8616944   Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations

  8771990   A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population

  8826441   5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

  8837319   The incidence of the gene for thermolabile methylene tetrahydrofolate reductase in African Americans

  8892013   Molecular genetics of methylenetetrahydrofolate reductase deficiency

  8903338   Determinants and vitamin responsiveness of intermediate hyperhomocysteinemia (> or = 40 micromol/liter). The Hordaland Homocysteine Study

  8981967   Differences in methylenetetrahydrofolate reductase genotype frequencies, between Whites and Blacks

  8994411   Methylenetetrahydrofolate reductase gene and coronary artery disease

  9133512   Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease

  9192280   Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia

  9244205   Myocardial infarction in young women in relation to plasma total homocysteine, folate, and a common variant in the methylenetetrahydrofolate reductase gene

  9341863   Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects

  9372726   Retinal arterial occlusion in a child with factor V Leiden and thermolabile methylene tetrahydrofolate reductase mutations

  9453374   Methionine synthase deficiency without megaloblastic anaemia

  9545406   Worldwide distribution of a common methylenetetrahydrofolate reductase mutation

  9737770   MTHFR association with arteriosclerotic vascular disease?

  9789068   A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells

  9798595   Genetic selection and folate intake during pregnancy

  9843036   Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip

  9863598   The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy

  10196703   Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR)

  10323741   Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

  10440833   Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

  10732818   The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defect in American Caucasians. The NTD Collaborative Group

  10869114   Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and preeclampsia in Japanese women

  10930360   Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome

  11121176   The homozygous C677T mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for migraine

  11140843   The frequency of the C677T substitution in the methylenetetrahydrofolate reductase gene in Manitoba

  11418485   Pharmacogenetics of methotrexate: toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase C677T polymorphism

  11781870   The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans

  11807890   MTRR and MTHFR polymorphism: link to Down syndrome?

  11863127   Hyperhomocysteinemia, low folate status, homozygous C677T mutation of the methylene tetrahydrofolate reductase and renal arterial thrombosis

  11888585   Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study

  11929966   A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status

  12080391   C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy

  12095808   The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with retinal artery occlusion

  12154064   Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors

  12165282   Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population

  12196644   Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis

  12221667   Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome

  12356947   Implications on human fertility of the 677C-->T and 1298A-->C polymorphisms of the MTHFR gene: consequences of a possible genetic selection

  12383688   Measurement of red blood cell methylfolate

  12384649   Lack of association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece

  12384833   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

  12387655   MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis

  12400059   Preferential transmission of the MTHFR 677 T allele to infants with Down syndrome: implications for a survival advantage

  12406076   Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult

  12428084   Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis

  12453860   Preponderance of methylenetetrahydrofolate reductase C677T homozygosity among leukemia patients intolerant to methotrexate

  12529699   Absence of association of fetal MTHFR C677T polymorphism with prenatal Down syndrome pregnancies

  12560871   Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis

  12796225   Folate, vitamin B12, homocysteine, and the MTHFR 677C->T polymorphism in anxiety and depression: the Hordaland Homocysteine Study

  12915598   Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia

  14647408   Role of polymorphisms in MTHFR and MTHFD1 genes in the outcome of childhood acute lymphoblastic leukemia

  14724163   Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases

  15051775   Predictors of oral mucositis in patients receiving hematopoietic cell transplants for chronic myelogenous leukemia

  15054400   Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate

  15103709   Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women

  15154859   MTHFR T677 homozygosis influences the presence of aura in migraineurs

  15173232   5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations are associated with DNA hypomethylation

  15534175   Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls

  15565101   In genetic control of disease, does 'race' matter?

  15704130   Equal proportion of adult male and female homozygous for the 677C --> T mutation in the methylenetetrahydrofolate reductase polymorphism

  15729744   A meta-analysis of the MTHFR C677T polymorphism and schizophrenia risk

  15781665   Methylenetetrahydrofolate reductase polymorphisms and therapy response in pediatric acute lymphoblastic leukemia

  15806605   Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control study

  15808177   C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma

  16013960   Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL

  16019535   No evidence of association of methylenetetrahydrofolate reductase polymorphism with occurrence of second neoplasms after treatment of childhood leukemia

  16172608   Homocysteine, methylenetetrahydrofolate reductase and risk of schizophrenia: a meta-analysis

  16365871   Migraine and MTHFR C677T genotype in a population-based sample

  16402130   The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis

  16462575   Effects of methylenetetrahydrofolate reductase and reduced folate carrier 1 polymorphisms on high-dose methotrexate-induced toxicities in children with acute lymphoblastic leukemia or lymphoma

  16463153   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

  16470725   Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China

  16501586   Methylenetetrahydrofolate reductase and thymidylate synthase genotypes modify oral mucositis severity following hematopoietic stem cell transplantation

  16712703   Maternal MTR genotype contributes to the risk of non-syndromic cleft lip and palate in the Polish population

  16800002   MTHFR C677T polymorphism and migraine with aura

  16870553   Folate cycle gene variants and chemotherapy toxicity in pediatric patients with acute lymphoblastic leukemia

  17035141   Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions

  17107626   Comparison of PrASE and Pyrosequencing for SNP Genotyping

  17115239   MTHFR polymorphism and bone mineral density: meta-analysis of published studies

  17119116   Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study

  17180579   Genetic polymorphisms associated with adverse events and elimination of methotrexate in childhood acute lymphoblastic leukemia and malignant lymphoma

  17284634   Modulation of the homocysteine-betaine relationship by methylenetetrahydrofolate reductase 677 C->t genotypes and B-vitamin status in a large-scale epidemiological study

  17301261   Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women

  17323057   Genetic polymorphisms of folate metabolic enzymes and toxicities of high dose methotrexate in children with acute lymphoblastic leukemia

  17350979   MTHFR C677T has differential influence on risk of MSI and MSS colorectal cancer

  17366837   Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada

  17436239   The methylenetetrahydrofolate reductase 677C-->T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism

  17488658   Methylenetetrahydrofolate reductase C677T and A1298C gene variants in adult non-Hodgkin's lymphoma patients: association with toxicity and survival

  17512587   MTHFR polymorphisms' influence on outcome and toxicity in acute lymphoblastic leukemia patients

  17543893   Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia

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