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Disease on EC 1.7.99.5 - 5,10-methylenetetrahydrofolate reductase (FADH2)

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DISEASE
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5,10-methylenetetrahydrofolate reductase (fadh2) deficiency
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
5,10-Methylenetetrahydrofolate reductase deficiency. Clinical and biochemical features of a further case.
A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.
Adverse effect of nitrous oxide in a child with 5,10-methylenetetrahydrofolate reductase deficiency.
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.
Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
Follow-up in a child with 5,10-methylenetetrahydrofolate reductase deficiency.
Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency.
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.
Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: Molecular genetic and enzymatic characterization of 76 patients.
Prenatal diagnosis of 5,10-methylenetetrahydrofolate reductase deficiency.
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Purine deoxynucleosides and adenosine dialdehyde decrease 5-amino-4-imidazolecarboxamide (Z-base)-dependent purine nucleotide synthesis in cultured T and B lymphoblasts.
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.
Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism.
Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.
[Effect of folic acid for treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency]
Abortion, Habitual
Maternal Factor V Leiden and Prothrombin Mutations Do Not Seem to Contribute to the Occurrence of Two or More Than Two Consecutive Miscarriages in Caucasian patients.
The C677T polymorphism of the methylenetetrahydrofolate reductase gene and idiopathic recurrent miscarriage.
[Genetic conditioned changes in activity of 5,10-methylenetetrahydrofolate reductase (MTHFR) and recurrent miscarriages]
Abortion, Spontaneous
Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester.
[Association of genetic polymorphisms in plasminogen activator inhibitor-1 gene and 5,10-methylenetetrahydrofolate reductase gene with recurrent early spontaneous abortion]
[C677T and A1298C mutation of the methylenetetrahydrofolate reductase gene in unexplained recurrent spontaneous abortion]
Acne Vulgaris
The Insulin-like Growth Factor-1 (G>A) and 5,10-methylenetetrahydrofolate Reductase (C677T) Gene Variants and the Serum Levels of Insulin-like Growth Factor-1, Insulin, and Homeostasis Model Assessment in Patients with Acne Vulgaris.
Activated Protein C Resistance
Hyperhomocyst(e)inemia and a common methylenetetrahydrofolate reductase mutation (Ala223Val MTHFR) in patients with inherited thrombophilic coagulation defects.
Adenocarcinoma
5,10-Methylenetetrahydrofolate reductase polymorphisms and the risk of pancreatic cancer.
Adenoma
Methylation status of CpG islands in the promoter region of genes differentially expressed in colonic mucosa from adenoma patients and controls in response to altered vegetable intake.
Amyotrophic Lateral Sclerosis
No association of MTHFR c.677C>T variant with sporadic ALS in an Italian population.
The thermolabile variant of 5,10-methylenetetrahydrofolate reductase is a possible risk factor for amyotrophic lateral sclerosis.
Anencephaly
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Antiphospholipid Syndrome
Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China.
[Mutation of a 5,10-methylenetetrahydrofolate reductase gene in systemic lupus erythematosis and antiphospholipid syndrome]
Aortic Aneurysm, Abdominal
The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm.
Arterial Occlusive Diseases
C677T MTHFR mutation and factor V Leiden mutation in patients with TIA/minor stroke: a case-control study.
Arthritis
Pharmacogenetic study of 5,10-methylenetetrahydrofolate reductase C677T and thymidylate synthase 3R/2R gene polymorphisms and methotrexate-related toxicity in Chinese Han patients with inflammatory arthritis.
Arthritis, Rheumatoid
Metabolism-blocked antifolates as potential anti-rheumatoid arthritis agents: 4-amino-4-deoxy-5,8,10-trideazapteroyl-d,l-4'-methyleneglutamic acid (CH-1504) and its analogs.
Pharmacogenetic study of methylenetetrahydrofolate reductase and thymidylate synthase in Japanese and assessment of ethnic and gender differences.
Preliminary study to identify the predictive factors for the response to methotrexate therapy in patients with rheumatoid arthritis.
Atherosclerosis
Effects of serum B vitamins on elevated plasma homocysteine levels associated with the mutation of methylenetetrahydrofolate reductase gene in Japanese.
Hyperhomocysteinaemia, folate and vitamin B12 in unsupplemented haemodialysis patients: effect of oral therapy with folic acid and vitamin B12.
Low concentrations of folate, not hyperhomocysteinemia, are associated with carotid intima-media thickness.
MTHFR C677T Polymorphism as a Risk Factor for Vascular Calcification in Chronic Hemodialysis Patients.
Polymorphisms of the methylenetetrahydrofolate reductase, vascular endothelial growth factor, endothelial nitric oxide synthase, monocyte chemoattractant protein-1 and apolipoprotein E genes are not associated with carotid intima-media thickness.
Serum total homocysteine, folate, 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T genotype and subclinical atherosclerosis.
Autoimmune Diseases
Relationship between 5,10-methylenetetrahydrofolate reductase C677T gene polymorphism and methotrexate related toxicity in patients with autoimmune diseases receiving folic acid supplementation.
Brain Diseases
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Brain Neoplasms
Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma.
Breast Neoplasms
Association between dietary intake of folate and MTHFR and MTR genotype with risk of breast cancer.
Dietary intake of folate, vitamin B2, vitamin B6, vitamin B12, genetic polymorphism of related enzymes, and risk of breast cancer: a case-control study in Japan.
Dietary intake of folate, vitamin B6, and vitamin B12, genetic polymorphism of related enzymes, and risk of breast cancer: a case-control study in Brazilian women.
Haplotypes of the MTHFR gene are associated with an increased risk of breast cancer in a Han Chinese population in Gansu province.
Meta-analyses of observational and genetic association studies of folate intakes or levels and breast cancer risk.
MTHFR polymorphisms, dietary folate intake and breast cancer risk in Chinese women.
Polymorphism of cytosolic serine hydroxymethyltransferase, estrogen and breast cancer risk among Chinese women in Taiwan.
[C677T-SNP of methylenetetrahydrofolate reductase gene and breast cancer in Mexican women].
Bronchopulmonary Dysplasia
Genetic risk factors of bronchopulmonary dysplasia.
Carcinoma
A phase I/II and pharmacogenomic study of pemetrexed and cisplatin in patients with unresectable, advanced gastric carcinoma.
Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas.
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and thymidylate synthase in squamous cell carcinoma and basal cell carcinoma of the skin.
Carcinoma, Basal Cell
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and thymidylate synthase in squamous cell carcinoma and basal cell carcinoma of the skin.
Carcinoma, Hepatocellular
Interrelationships among genetic C677T polymorphism of 5,10-methylenetetrahydrofolate reductase, biochemical folate status, and lymphocytic p53 oxidative damage in association with tumor malignancy and survivals of patients with hepatocellular carcinoma.
Osmotic regulation of hepatic betaine metabolism.
Carcinoma, Squamous Cell
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and thymidylate synthase in squamous cell carcinoma and basal cell carcinoma of the skin.
Cardiovascular Diseases
Correlation between C677T MTHFR gene polymorphism, plasma homocysteine levels and the incidence of CAD.
Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate.
Genetic analysis of the thermolabile variant of 5, 10-methylenetetrahydrofolate reductase as a risk factor for ischemic stroke.
Homocysteine, 5,10-methylenetetrahydrofolate reductase 677C>T polymorphism, nutrient intake, and incident cardiovascular disease in 24,968 initially healthy women.
Mutated 5,10-methylenetetrahydrofolate reductase, hyperhomocysteinemia and risk for cardiovascular disease. Nature, nurture or nonsense?
The C677T MTHFR genotypes influence the efficacy of B9 and B12 vitamins supplementation to lowering plasma total homocysteine in hemodialysis.
The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea.
[Role of polymorphic variants of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in the pathogenesis of cardiovascular diseases]
Carotid Artery Diseases
An association of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and common carotid atherosclerosis.
Celiac Disease
Effect of B vitamin supplementation on plasma homocysteine levels in celiac disease.
Cerebral Infarction
Mild hyperhomocysteinemia and low folate concentrations as risk factors for cervical arterial dissection.
Cerebrovascular Disorders
[An update on the familial headache syndromes]
Cholangiocarcinoma
Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population.
Cleft Lip
5,10-Methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms in patients with nonsyndromic cleft lip and palate.
Association of MTHFR 1298A?>?C Polymorphism with Susceptibility to Non-Syndromic Cleft Lip with or without Palate: A Case-Control Study and Meta-Analysis.
Family-based association study of the MTHFR polymorphism C677T in patients with nonsyndromic cleft lip and palate from central Europe.
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis.
MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile.
Cleft Palate
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis.
MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile.
Colonic Neoplasms
5,10-methylenetetrahydrofolate reductase 677 and 1298 polymorphisms, folate intake, and microsatellite instability in colon cancer.
5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites.
5,10-Methylenetetrahydrofolate reductase polymorphisms and colon cancer risk: a meta-analysis.
Phenotypic expression of the methylenetetrahydrofolate reductase 677C-->T polymorphism and flavin cofactor availability in thyroid dysfunction.
Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer.
Colorectal Neoplasms
A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk.
Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: a case-control study in an Indian population.
Methylenetetrahydrofolate reductase polymorphism, alcohol intake, and risks of colon and rectal cancers in Korea.
Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer.
Risk of colorectal cancer associated with the C677T polymorphism in 5,10-methylenetetrahydrofolate reductase in Portuguese patients depends on the intake of methyl-donor nutrients.
The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk.
Congenital Abnormalities
[Association of folate metabolism genes MTRR and MTHFR with complex congenital abnormalities among Chinese population in Shanxi Province, China].
Coronary Artery Disease
Associations of the MTHFR rs1801133 polymorphism with coronary artery disease and lipid levels: a systematic review and updated meta-analysis.
C677T polymorphism of the methylenetetrahydrofolate reductase gene is a risk factor of adverse events after coronary revascularization.
Distribution in healthy and coronary populations of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation.
Genetic polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) as a risk factor for coronary artery disease.
High incidence of two methylenetetrahydrofolate reductase mutations (C677T and A1298C) in Hispanics.
High prevalence of MTHFR gene A1298C polymorphism in Lebanon.
Methylenetetrahydrofolate reductase gene and coronary artery disease.
Phenotypic expression of the methylenetetrahydrofolate reductase 677C-->T polymorphism and flavin cofactor availability in thyroid dysfunction.
Polymorphisms of methylenetetrahydrofolate reductase are not a risk factor for Kawasaki disease in the Korean population.
Relationship of the 1793G-A and 677C-T polymorphisms of the 5,10-methylenetetrahydrofolate reductase gene to coronary artery disease.
The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm.
Coronary Disease
Expression of the C677T Polymorphism of the 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) Gene in Patients with Carotid Artery Atherosclerosis.
The human MTHFR rs4846049 polymorphism increases coronary heart disease risk through modifying miRNA binding.
[An update on the familial headache syndromes]
Dementia
Plasma homocysteine and MTHFRC677T polymorphism as risk factors for incident dementia.
Serum homocysteine: Interplay with other circulating and genetic factors in association to Alzheimer's type dementia.
Dementia, Vascular
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
Demyelinating Diseases
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.
Diabetes Mellitus, Type 2
MTHFR 677T variant contributes to diabetic nephropathy risk in Caucasian individuals with type 2 diabetes: A meta-analysis.
Diabetic Nephropathies
MTHFR 677T variant contributes to diabetic nephropathy risk in Caucasian individuals with type 2 diabetes: A meta-analysis.
Down Syndrome
No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers.
Epilepsies, Partial
Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult.
Epilepsy
Vitamin supplementation as possible prophylactic treatment against migraine with aura and menstrual migraine.
Essential Hypertension
Association between methylenetetrahydrofolate reductase (MTHFR) C677T/A1298C polymorphisms and essential hypertension: a systematic review and meta-analysis.
Methylenetetrahydrofolate reductase gene polymorphisms in essential hypertension relation: with the development of hypertensive end-stage renal disease.
The relationship between MTHFR C677T gene polymorphism and essential hypertension in a sample of an Algerian population of Oran city.
Fatigue Syndrome, Chronic
Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.
Folic Acid Deficiency
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
Genetic Diseases, Inborn
The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
Glioma
Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma.
Graft vs Host Disease
Decreased risk of acute graft-versus-host disease following allogeneic hematopoietic stem cell transplantation in patients with the 5,10-methylenetetrahydrofolate reductase 677TT genotype.
Methylenetetrahydrofolate reductase C677T genotypes and clinical outcome following hematopoietic cell transplant.
Heart Defects, Congenital
Association Between MTHFR C677T Polymorphism and Congenital Heart Disease.
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis.
Hemochromatosis
Genetic and environmental modifiers of Wilson disease.
Homocystinuria
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
Folate-responsive homocystinuria and "schizophrenia". A defect in methylation due to deficient 5,10-methylenetetrahydrofolate reductase activity.
Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy.
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
Infantile type of homocystinuria with 5,10-methylenetetrahydrofolate reductase deficiency.
[Effect of folic acid for treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency]
[Vascular complications of homocystinuria: a retrospective multicenter study]
Hydrocephalus
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency.
Hyperhomocysteinemia
Adult-onset methylenetetrahydrofolate reductase deficiency.
An evidence-based approach to globally assess the covariate-dependent effect of the MTHFR single nucleotide polymorphism rs1801133 on blood homocysteine: a systematic review and meta-analysis.
C677T polymorphism of the methylenetetrahydrofolate reductase gene is a risk factor of adverse events after coronary revascularization.
Distribution of 5,10-methylenetetrahydrofolate reductase (C667T) polymorphism and its association with red blood cell 5-methyltetrahydrofolate in the healthy Iranians.
Elevated risk of thrombophilia in agenesis of the vena cava as a factor for deep vein thrombosis.
Genetic analysis of the thermolabile variant of 5, 10-methylenetetrahydrofolate reductase as a risk factor for ischemic stroke.
High prevalence of MTHFR gene A1298C polymorphism in Lebanon.
Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia.
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis.
Hyperhomocysteinemia and the methylene tetrahydrofolate reductase C677T mutation in splanchnic vein thrombosis.
Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome.
Hyperhomocysteinemia in Tunisian bipolar I patients.
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
Methylenetetrahydrofolate reductase gene polymorphism is not related to the risk of ischemic cerebrovascular disease in a Brazilian population.
Mutated 5,10-methylenetetrahydrofolate reductase, hyperhomocysteinemia and risk for cardiovascular disease. Nature, nurture or nonsense?
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Mutations C677T and A1298C of the 5,10-methylenetetrahydrofolate reductase gene and fasting plasma homocysteine levels are not associated with the increased risk of venous thromboembolic disease.
Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation.
Role of homocysteine in age-related vascular and non-vascular diseases.
The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients.
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea.
The MTHFR C677T polymorphism modifies age at onset in Parkinson's disease.
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker.
Hyperinsulinism
Effects of a high-fat-sucrose diet on enzymes in homocysteine metabolism in the rat.
Hypertension
5,10-Methylenetetrahydrofolate reductase polymorphism and early organ damage in primary hypertension.
Expression of the C677T Polymorphism of the 5, 10-Methylenetetrahydrofolate Reductase (MTHFR) Gene in Patients with Carotid Artery Atherosclerosis.
Methylenetetrahydrofolate reductase polymorphism, folate, and susceptibility to preeclampsia.
The relationship between MTHFR C677T gene polymorphism and essential hypertension in a sample of an Algerian population of Oran city.
Hyperthyroidism
Folate-mediated incorporation of ring-2-carbon of histidine into nucleic acids: influence of thyroid hormone.
Hypothyroidism
Folate-mediated incorporation of ring-2-carbon of histidine into nucleic acids: influence of thyroid hormone.
Infant, Newborn, Diseases
Clinical and molecular characterization of adult patients with late-onset MTHFR deficiency.
Infections
Cervical-artery dissections: predisposing factors, diagnosis, and outcome.
Infertility
Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation.
Infertility, Male
MTHFR C677T polymorphism associates with unexplained infertile male factors.
Ischemic Attack, Transient
677C to T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and plasma homocyst(e)ine levels in patients with TIA or minor stroke.
Ischemic Stroke
A comprehensive association analysis of homocysteine metabolic pathway genes in Singaporean Chinese with ischemic stroke.
An association of 5,10-Methylenetetrahydrofolate Reductase (MTHFR) gene polymorphism and ischemic stroke.
Association between 5,10-Methylenetetrahydrofolate Reductase C677T Gene Polymorphism and Risk of Ischemic Stroke: A Meta-analysis.
Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis.
Genetics of ischaemic stroke among persons of non-European descent: a meta-analysis of eight genes involving approximately 32,500 individuals.
Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis.
Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke.
Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and susceptibility to ischemic stroke: a meta-analysis.
Methylenetetrahydrofolate reductase gene polymorphism is not related to the risk of ischemic cerebrovascular disease in a Brazilian population.
Prevalence of prothrombotic polymorphisms in a selected cohort of cryptogenic and noncryptogenic ischemic stroke patients.
Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation.
The coagulation factor V Leiden, MTHFRC677T variant and eNOS 4ab polymorphism in young Chinese population with ischemic stroke.
Kidney Failure, Chronic
Influence of 5,10-methylenetetrahydrofolate reductase gene polymorphism on plasma homocysteine concentration in patients with end-stage renal disease.
Leukemia
5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: a HuGE minireview.
Molecular biomarkers for the study of childhood leukemia.
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and thymidylate synthase, dietary folate intake, and the risk of leukemia in adults.
Lung Neoplasms
Folate pathway gene MTHFR C677T polymorphism and risk of lung cancer in Asian populations.
Quantitative assessment of the effect of MTHFR polymorphisms on the risk of lung carcinoma.
Lupus Erythematosus, Systemic
Homocysteine, methylenetetrahydrofolate reductase polymorphism, antiphospholipid antibodies, and thromboembolic events in systemic lupus erythematosus: a retrospective cohort study.
Meningioma
5,10-Methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTRR), and methionine synthase reductase (MTR) gene polymorphisms and adult meningioma risk.
Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma.
Meningomyelocele
Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients.
Maternal gene-micronutrient interactions related to one-carbon metabolism and the risk of myelomeningocele among offspring.
Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
Mesothelioma
Correlation between TS, MTHFR, and ERCC1 gene polymorphisms and the efficacy of platinum in combination with pemetrexed first-line chemotherapy in mesothelioma patients.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.
Migraine Disorders
Cervical-artery dissections: predisposing factors, diagnosis, and outcome.
Effects of MTHFR C677T and A1298C Polymorphisms on Migraine Susceptibility: A Meta-Analysis of 26 Studies.
Search for correlations between genotypes and electrophysiological patterns in migraine: the MTHFR C677T polymorphism and visual evoked potentials.
Vitamin supplementation as possible prophylactic treatment against migraine with aura and menstrual migraine.
Migraine with Aura
Vitamin supplementation as possible prophylactic treatment against migraine with aura and menstrual migraine.
Myocardial Infarction
D allele of the angiotensin-converting enzyme gene is a risk factor for secondary cardiac events after myocardial infarction.
Homozygosity for the C677-->T mutation of 5,10-methylenetetrahydrofolate reductase and total plasma homocyst(e) ine are not associated with greater than normal risk of a first myocardial infarction in northern Sweden.
Myocardial infarction in young women in relation to plasma total homocysteine, folate, and a common variant in the methylenetetrahydrofolate reductase gene.
Myocardial Ischemia
Molecular variant of 5,10-methylenetetrahydrofolate reductase is a risk factor of ischemic heart disease in the Japanese population.
Myoclonic Epilepsies, Progressive
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
Narcolepsy
Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.
Neoplasms
A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk.
Association of MTHFR (C677T) Gene Polymorphism With Breast Cancer in North India.
Association of MTHFR gene polymorphisms with breast cancer survival.
Elevated homocysteine level and folate deficiency associated with increased overall risk of carcinogenesis: meta-analysis of 83 case-control studies involving 35,758 individuals.
Epigenetics in Clinical Practice: Characterizing Patient and Provider Experiences with MTHFR Polymorphisms and Methylfolate.
Flavin-dependent enzymes in cancer prevention.
Genotyping of two single nucleotide polymorphisms in 5,10-methylenetetrahydrofolate reductase by multiplex polymerase chain reaction and capillary electrophoresis.
Interrelationships among genetic C677T polymorphism of 5,10-methylenetetrahydrofolate reductase, biochemical folate status, and lymphocytic p53 oxidative damage in association with tumor malignancy and survivals of patients with hepatocellular carcinoma.
Methylenetetrahydrofolate reductase polymorphism and susceptibility to breast cancer.
MTHFR polymorphisms and breast cancer risk.
Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China.
Neural Tube Defects
Antisense modulation of 5,10-methylenetetrahydrofolate reductase expression produces neural tube defects in mouse embryos.
Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects.
Association between MTHFR A1298C polymorphism and neural tube defect susceptibility: a metaanalysis.
Association between MTHFR gene polymorphism and NTDs in Chinese Han population.
Association of MTHFR C677T, MTHFR A1298C, and MTRR A66G Polymorphisms with Neural Tube Defects in Tunisian Parents.
C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?
Changes in frequencies of heterozygous thermolabile 5,10-methylenetetrahydrofolate reductase gene in fetuses with neural tube defects.
Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects.
Does prenatal screening for 5,10-methylenetetrahydrofolate reductase (MTHFR) mutations in high-risk neural tube defect pregnancies make sense?
Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects.
Impact of 5,10-methylenetetrahydrofolate reductase gene polymorphism on neural tube defects.
Interaction between maternal 5,10-methylenetetrahydrofolate reductase C677T and methionine synthase A2756G gene variants to increase the risk of fetal neural tube defects in a Shanxi Han population.
Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis.
Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.
Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects.
Non-Latin European descent could be a requirement for association of NTDs and MTHFR variant 677C > T: A meta-analysis.
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria.
Polymorphisms of 5,10-Methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria. Concerning the article by Houcher et al., Pediatr Neurosurg 2009;45:472-477.
Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.
Role of amniotic fluid homocysteine level and of fetal 5, 10-methylenetetrahydrafolate reductase genotype in the etiology of neural tube defects.
Neurodegenerative Diseases
Role of homocysteine in age-related vascular and non-vascular diseases.
Neurologic Manifestations
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings.
Pancreatic Neoplasms
5,10-Methylenetetrahydrofolate reductase polymorphisms and the risk of pancreatic cancer.
Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysis.
Parkinson Disease
5,10-methylenetetrahydrofolate reductase C677T gene polymorphism can influence age at onset of Parkinson's disease.
Methylenetetrahydrofolate reductase polymorphisms and plasma homocysteine in levodopa-treated and non-treated Parkinson's disease patients.
MTHFR C677T and A1298C polymorphisms may contribute to the risk of Parkinson's disease: A meta-analysis of 19 studies.
The thermolabile variant of 5,10-methylenetetrahydrofolate reductase is not associated with Parkinson's disease.
Peripheral Arterial Disease
5,10-methylenetetrahydrofolate reductase C677T gene polymorphism and peripheral arterial disease: A meta-analysis.
Peripheral Nervous System Diseases
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
Effect of betaine on S-adenosylmethionine levels in the cerebrospinal fluid in a patient with methylenetetrahydrofolate reductase deficiency and peripheral neuropathy.
Peripheral Vascular Diseases
The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm.
Polycystic Ovary Syndrome
Homocysteine levels and C677T polymorphism of methylenetetrahydrofolate reductase in women with polycystic ovary syndrome.
Polyneuropathies
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Postural Orthostatic Tachycardia Syndrome
Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.
Pre-Eclampsia
A mutation in the 5,10-methylenetetrahydrofolate reductase gene is not associated with preeclampsia in women of southeast Mexico.
Correlation between MTHFR gene methylation and pre-eclampsia, and its clinical significance.
Hyperhomocysteinaemia: a risk factor for preeclampsia?
Methylenetetrahydrofolate reductase C677T and glutathione S-transferase P1 A313G are associated with a reduced risk of preeclampsia in Maya-Mestizo women.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
5,10-Methylenetetrahydrofolate reductase (MTHFR) low activity genotypes reduce the risk of relapse-related acute lymphoblastic leukemia (ALL).
5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and the risk of acute lymphoblastic leukemia (ALL) in Filipino children.
5,10-Methylenetetrahydrofolate reductase polymorphisms and acute lymphoblastic leukemia risk: a meta-analysis.
Association of the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) polymorphisms in Korean patients with adult acute lymphoblastic leukemia.
Methylenetetrahydrofolate Reductase Polymorphisms and Risk of Acute Lymphoblastic Leukemia-Evidence from an updated meta-analysis including 35 studies.
Molecular biomarkers for the study of childhood leukemia.
Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia.
Risk factors for symptomatic osteonecrosis in childhood ALL: A retrospective study of a Slovenian pediatric ALL population between 1970 and 2004.
Significance of 5,10-methylenetetrahydrofolate reductase gene variants in acute lymphoblastic leukemia in Indian population: an experimental, computational and meta-analysis.
Pregnancy, Ectopic
The effect of parental 5,10-methylenetetrahydrofolate reductase 677C/T and 1298A/C gene polymorphisms on response to single-dose methotrexate in tubal ectopic pregnancy.
Presbycusis
Polymorphisms in folate metabolism genes are associated with susceptibility to presbycusis.
Prostatic Neoplasms
MTHFR C677T polymorphism contributes to prostate cancer risk among Caucasians: A meta-analysis of 3511 cases and 2762 controls.
No association of the MTHFR gene A1298C polymorphism with the risk of prostate cancer: A meta-analysis.
Protein S Deficiency
Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children.
Review article: the aetiology of primary Budd-Chiari syndrome - differences between the West and China.
Psoriasis
Study of the relationship between psoriasis and the polymorphic site C677T of methylenetetrahydrofolate reductase.
Pulmonary Embolism
Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospital-based case-control study.
Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study.
Renal Insufficiency
Methylenetetrahydrofolate reductase gene polymorphisms in essential hypertension relation: with the development of hypertensive end-stage renal disease.
The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients.
Retinal Vein Occlusion
Bilateral retinal vein occlusion associated with 5,10-methylenetetrahydrofolate reductase mutation.
Scleroderma, Systemic
Plasma homocysteine levels, the prevalence of methylenetetrahydrofolate reductase gene C677T polymorphism and macrovascular disorders in systemic sclerosis: risk factors for accelerated macrovascular damage?
Seizures
5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Spastic Paraplegia, Hereditary
Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.
Spinal Cord Diseases
Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase.
Spinal Dysraphism
C677T mutation in the MTHFR gene was not found in patients with frontoethmoidal encephalocele in East Java, Indonesia.
Is the common 677C-->T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis.
Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.
Spina bifida and folate-related genes: a study of gene-gene interactions.
The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
Stomach Neoplasms
Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer.
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a case-control study.
Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of stomach cancer in a Korean population.
Relationship between glutathione S-transferase P1 (GSTP1), X-ray repair cross complementing group 1 (XRCC1) and 5,10-methylenetetrahydrofolate reductase (5,10-MTHFR) gene polymorphisms and response to chemotherapy in advanced gastric cancer.
[C677T polymorphism of the MTHFR gene and the risk of developing distal gastric cancer in a Mexican population]
Stroke
677C to T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene and plasma homocyst(e)ine levels in patients with TIA or minor stroke.
Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings.
Homozygous MTHFR C677T gene mutation and recurrent stroke in an infant.
The C677T polymorphism of the methylenetetrahydrofolate reductase gene is associated with idiopathic ischemic stroke in the young Mexican-Mestizo population.
The model homologue of the partially defective human 5,10-methylenetetrahydrofolate reductase, considered as a risk factor for stroke due to increased homocysteine level, can be protected and reactivated by heat shock proteins.
Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned.
Subacute Combined Degeneration
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency.
Subacute combined degeneration of the cord, dementia and parkinsonism due to an inborn error of folate metabolism.
Tachycardia
Comorbidity of chronic fatigue syndrome, postural tachycardia syndrome, and narcolepsy with 5,10-methylenetetrahydrofolate reductase (MTHFR) mutation in an adolescent: a case report.
Thrombophilia
High incidence of two methylenetetrahydrofolate reductase mutations (C677T and A1298C) in Hispanics.
Maternal Factor V Leiden and Prothrombin Mutations Do Not Seem to Contribute to the Occurrence of Two or More Than Two Consecutive Miscarriages in Caucasian patients.
Thrombosis
High prevalence of MTHFR gene A1298C polymorphism in Lebanon.
Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospital-based case-control study.
Hyperhomocysteinemia and the methylene tetrahydrofolate reductase C677T mutation in splanchnic vein thrombosis.
Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome.
Multiple coronary artery thrombosis in 5,10-methylenetetrahydrofolate reductase gene mutation.
Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study.
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
Vascular Diseases
Elevated total plasma homocysteine and 677C-->T mutation of the 5,10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease.
Homozygosity for the C677-->T mutation of 5,10-methylenetetrahydrofolate reductase and total plasma homocyst(e) ine are not associated with greater than normal risk of a first myocardial infarction in northern Sweden.
Investigation of the association between 677C>T and 1298A>C 5,10-methylenetetra- hydrofolate reductase gene polymorphisms and normal-tension glaucoma.
Methylenetetrahydrofolate reductase gene A222V polymorphism and risk of ischemic stroke.
Opposite effects of plasma homocysteine and the methylenetetrahydrofolate reductase C677T mutation on carotid artery geometry in asymptomatic adults.
The methylenetetrahydrofolate reductase C677T polymorphism does not associate with susceptibility to abdominal aortic aneurysm.
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations.
Venous Thromboembolism
Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population.
Lack of association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece.
[Relationship of plasma homocysteine and folic acid levels and 5,10-methylenetetrahydrofolate reductase gene mutation with venous thromboembolism]
Venous Thrombosis
High prevalence of MTHFR gene A1298C polymorphism in Lebanon.
Homocysteine, methylenetetrahydrofolate reductase polymorphism, antiphospholipid antibodies, and thromboembolic events in systemic lupus erythematosus: a retrospective cohort study.
Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospital-based case-control study.
Rapid automated simultaneous screening of (G1691A) Factor V, (G20210A) prothrombin, and (C677T) methylenetetrahydrofolate reductase variants by multiplex PCR using fluorescence scanning technology.
Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study.
The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans.
[Homocysteine, 5,10-methylenetetrahydrofolate reductase and deep venous thrombosis. Survey of 120 patients in internal medicine]
Vitamin B 12 Deficiency
5-Methyltetrahydrofolate related enzymes and DNA polymerase alpha activities in bone marrow cells from patients with vitamin B12 deficient megaloblastic anemia.