MTHFR

Summary

Gene Symbol: MTHFR
Description: methylenetetrahydrofolate reductase
Alias: methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H)
Species: human
Products:     MTHFR

Top Publications

  1. De Marco P, Calevo M, Moroni A, Arata L, Merello E, Finnell R, et al. Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population. J Hum Genet. 2002;47:319-24 pubmed
    Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians...
  2. Moorthy D, Peter I, Scott T, Parnell L, Lai C, Crott J, et al. Status of vitamins B-12 and B-6 but not of folate, homocysteine, and the methylenetetrahydrofolate reductase C677T polymorphism are associated with impaired cognition and depression in adults. J Nutr. 2012;142:1554-60 pubmed publisher
    The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene differs in frequency in various ethnic groups that have differing prevalence of age-related cognitive impairments...
  3. Alberola V, Sarries C, Rosell R, Taron M, de Las Peñas R, Camps C, et al. Effect of the methylenetetrahydrofolate reductase C677T polymorphism on patients with cisplatin/gemcitabine-treated stage IV non-small-cell lung cancer. Clin Lung Cancer. 2004;5:360-5 pubmed
    ..In the present study, we have examined the SNP of methylenetetrahydrofolate reductase (MTHFR) C677T, which affects DNA methylation patterns and is linked to elevated plasma homocysteine ..
  4. Yang B, Fan S, Zhi X, Li Y, Liu Y, Wang D, et al. Associations of MTHFR gene polymorphisms with hypertension and hypertension in pregnancy: a meta-analysis from 114 studies with 15411 cases and 21970 controls. PLoS ONE. 2014;9:e87497 pubmed publisher
    Several epidemiological studies have investigated the associations of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms with hypertension (H) or hypertension in pregnancy (HIP)...
  5. Wettergren Y, Odin E, Carlsson G, Gustavsson B. MTHFR, MTR, and MTRR polymorphisms in relation to p16INK4A hypermethylation in mucosa of patients with colorectal cancer. Mol Med. 2010;16:425-32 pubmed publisher
    ..In the present study, germ line polymorphisms in the folate- and methyl-associated genes, methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR) and methionine synthase reductase (MTRR), were analyzed in the ..
  6. Wu W, Shen O, Qin Y, Niu X, Lu C, Xia Y, et al. Idiopathic male infertility is strongly associated with aberrant promoter methylation of methylenetetrahydrofolate reductase (MTHFR). PLoS ONE. 2010;5:e13884 pubmed publisher
    ..chain reaction and bisulfite sequencing method, we examined methylation patterns of the promoter of methylenetetrahydrofolate reductase (MTHFR) gene (NG_013351: 1538-1719) in sperm DNA obtained from 94 idiopathic infertile men and 54 ..
  7. Gupta N, Gupta S, Dama M, David A, Khanna G, Khanna A, et al. Strong association of 677 C>T substitution in the MTHFR gene with male infertility--a study on an indian population and a meta-analysis. PLoS ONE. 2011;6:e22277 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate and methionine metabolism, making it crucial for DNA synthesis and methylation...
  8. Ouerhani S, Rouissi K, Marrakchi R, Ben Slama M, Sfaxi M, Chebil M, et al. Combined effect of NAT2, MTR and MTHFR genotypes and tobacco on bladder cancer susceptibility in Tunisian population. Cancer Detect Prev. 2009;32:395-402 pubmed
    ..Moreover, folate insufficiency can induces carcinogenesis by decreasing DNA methylation. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTR) are enzymes that play central roles in the folate metabolic ..
  9. Mamasoula C, Prentice R, Pierscionek T, Pangilinan F, Mills J, Druschel C, et al. Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls. Circ Cardiovasc Genet. 2013;6:347-53 pubmed publisher
    Association between the C677T polymorphism of the methylene tetrahydrofolate reductase (MTHFR) gene and congenital heart disease (CHD) is contentious...

More Information

Publications156 found, 100 shown here

  1. Spellicy C, Northrup H, Fletcher J, Cirino P, Dennis M, Morrison A, et al. Folate metabolism gene 5,10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients. PLoS ONE. 2012;7:e51330 pubmed publisher
    The objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD) in individuals with myelomeningocele...
  2. Langevin S, Lin D, Matsuo K, Gao C, Takezaki T, Stolzenberg Solomon R, et al. Review and pooled analysis of studies on MTHFR C677T polymorphism and esophageal cancer. Toxicol Lett. 2009;184:73-80 pubmed publisher
    ..may be modified by functional polymorphisms in genes along the folate metabolic pathway, such as methylenetetrahydrofolate reductase (MTHFR)...
  3. Ibrahim S, El Dessokiy O. Prevalence of methylenetetrahydrofolate gene (MTHFR) C677T polymorphism among chronic hemodialysis patients and its association with cardiovascular disease: a cross-sectional analysis. Clin Exp Nephrol. 2009;13:501-507 pubmed publisher
    ..A common C-T mutation at nucleotide position 677 (C677T) has been identified in the gene coding for methylenetetrahydrofolate reductase (MTHFR), which is involved in the remethylation of homocysteine (Hcy)...
  4. Zhao M, Ren Y, Shen L, Zhang Y, Zhou B. Association between MTHFR C677T and A1298C polymorphisms and NSCL/P risk in Asians: a meta-analysis. PLoS ONE. 2014;9:e88242 pubmed publisher
    Several studies have reported the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and nonsyndromic cleft lip with or without palate (NSCL/P) in Asian populations...
  5. Li S, Li J, Xiao Z, Ren A, Jin L. Prospective study of MTHFR genetic polymorphisms as a possible etiology of male infertility. Genet Mol Res. 2014;13:6367-74 pubmed publisher
    The aim of this study was to explore the relationship between 2 genetic polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR), C677T and A1298C, and determine the long-term reproductive outcome in infertile men...
  6. Li K, Li W, Dong X. Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. PLoS ONE. 2014;9:e71290 pubmed publisher
    The 677 C>T and 1298 A>C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene have been widely reported and considered to have a significant effect on breast cancer risk, but the results are inconsistent...
  7. Zhu B, Wu X, Zhi X, Liu L, Zheng Q, Sun G. Methylenetetrahydrofolate reductase C677T polymorphism and type 2 diabetes mellitus in Chinese population: a meta-analysis of 29 case-control studies. PLoS ONE. 2014;9:e102443 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, had significant effects on the homocysteine levels. The common functional MTHFR C677T polymorphism had been extensively researched...
  8. Huang C, Chang W, Shui H, Hsieh Y, Loh C, Wang H, et al. Evaluation of the contribution of methylenetetrahydrofolate reductase genotypes to Taiwan breast cancer. Anticancer Res. 2014;34:4109-15 pubmed
    The aim of the present study was to evaluate the effects of the genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and its interaction with early-onset breast cancer risk in Taiwan...
  9. Wang Z, Cui W, Yang L, Zhu Y, Wei W. Association of dietary intake of folate and MTHFR genotype with breast cancer risk. Genet Mol Res. 2014;13:5446-51 pubmed publisher
    We conducted a hospital-based case-control study to investigate the associations of dietary intake of folate and MTHFR C677T and A1298C polymorphisms with breast cancer in a Chinese population...
  10. Rai V. The methylenetetrahydrofolate reductase C677T polymorphism and breast cancer risk in Asian populations. Asian Pac J Cancer Prev. 2014;15:5853-60 pubmed
    Methylenetetrahydrofolate (MTHFR) is the key enzyme of the folate metabolic pathway and several studies have pointed to association between the MTHFR C677T polymorphism and breast cancer risk...
  11. Chao C, Wei J, Huang H, Yang S. Correlation between methyltetrahydrofolate reductase (MTHFR) polymorphisms and isolated patent ductus arteriosus in Taiwan. Heart Lung Circ. 2014;23:655-60 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms are associated with the risk of patent ductus arteriosus (PDA) congenital heart defects...
  12. Permoda Osip A, Dmitrzak Weglarz M, Hauser J, Rybakowski J. Are genes connected with homocysteine metabolism associated with bipolar disorder?. Neuropsychobiology. 2014;69:107-11 pubmed publisher
    ..with homocysteine metabolism, some studies have found an association between polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene and bipolar disorder...
  13. Botto L, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000;151:862-77 pubmed
    The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36...
  14. Schläwicke Engström K, Broberg K, Concha G, Nermell B, Warholm M, Vahter M. Genetic polymorphisms influencing arsenic metabolism: evidence from Argentina. Environ Health Perspect. 2007;115:599-605 pubmed
    ..S-transferase omega 1 (GSTO1), 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), methylenetetrahydrofolate reductase (MTHFR), and glutathione S-transferases mu 1 (GSTM1) and theta 1 (GSTT1)...
  15. Wang S, Qiao F, Feng L, Lv J. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome in China. J Zhejiang Univ Sci B. 2008;9:93-9 pubmed publisher
    To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), the central enzymes in folate metabolism that affects DNA methylation and synthesis, and the ..
  16. Callejón G, Mayor Olea A, Jimenez A, Gaitan M, Palomares A, Martinez F, et al. Genotypes of the C677T and A1298C polymorphisms of the MTHFR gene as a cause of human spontaneous embryo loss. Hum Reprod. 2007;22:3249-54 pubmed
    BACKGROUND Polymorphisms C677T and A1298C of the MTHFR gene have been implicated in fetal viability...
  17. Lissowska J, Gaudet M, Brinton L, Chanock S, Peplonska B, Welch R, et al. Genetic polymorphisms in the one-carbon metabolism pathway and breast cancer risk: a population-based case-control study and meta-analyses. Int J Cancer. 2007;120:2696-703 pubmed
    ..Previous studies have focused on 2 polymorphisms in the methylenetetrahydrofolate gene (MTHFR A222V and E429A); however, findings are inconclusive...
  18. Shi J, Gershon E, Liu C. Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. Schizophr Res. 2008;104:96-107 pubmed publisher
    ..The odds ratios (ORs) of the associated minor risk alleles range from 1.072 to 1.121, for DRD4, MTHFR, PPP3CC and TP53. For protective allele associations, the ORs are between 0.842 and 0...
  19. Jennings B, Willis G, Skinner J, Relton C. Genetic selection? A study of individual variation in the enzymes of folate metabolism. BMC Med Genet. 2010;11:18 pubmed publisher
    ..We have looked at the prevalence of genetic variants of the enzymes MTHFR and TYMS in 2,898 DNA samples derived from five cohorts collected in the United Kingdom...
  20. Mendilcioglu I, Bilgen T, Arikan Y, Keser I, Simsek M, Timuragaoglu A. The association between inherited thrombophilias and pregnancy-related hypertension recurrence. Arch Gynecol Obstet. 2011;284:837-41 pubmed publisher
    ..samples were tested for factor V Leiden, prothrombin G20210A and homozygous methylene tetrahydrofolate reductase (MTHFR) C677T mutations using reverse hybridization method. Common inherited thrombophilias were present in 26...
  21. Fung M, Salem R, Lipkowitz M, Bhatnagar V, Pandey B, Schork N, et al. Methylenetetrahydrofolate reductase (MTHFR) polymorphism A1298C (Glu429Ala) predicts decline in renal function over time in the African-American Study of Kidney Disease and Hypertension (AASK) Trial and Veterans Affairs Hypertension Cohort (VAHC). Nephrol Dial Transplant. 2012;27:197-205 pubmed publisher
    ..Mutations in the human methylenetetrahydrofolate reductase (MTHFR) gene have been associated with increased homocysteine levels and risks of CVD in various ..
  22. Ventura P, Rosa M, Abbati G, Marchini S, Grandone E, Vergura P, et al. Hyperhomocysteinaemia in chronic liver diseases: role of disease stage, vitamin status and methylenetetrahydrofolate reductase genetics. Liver Int. 2005;25:49-56 pubmed
    ..such as the stage and the aetiology of disease, vitamin status, genetic documented alterations (methylenetetrahydrofolate reductase deficiency) and presence/absence of documented malignant evolution (hepatocellular carcinoma)...
  23. Falchi A, Giovannoni L, Piras I, Calo C, Moral P, Vona G, et al. Prevalence of genetic risk factors for coronary artery disease in Corsica island (France). Exp Mol Pathol. 2005;79:210-3 pubmed
    ..GpIIIa Pl(A1/A2)), (4) Coagulation fibrinolysis: Plasminogen Activator Tissue (PLAT TPA25 I/D) and Methylenetetrahydrofolate Reductase (MTHFR C677T and A1298C)...
  24. De Mattia E, Toffoli G. C677T and A1298C MTHFR polymorphisms, a challenge for antifolate and fluoropyrimidine-based therapy personalisation. Eur J Cancer. 2009;45:1333-51 pubmed publisher
    ..5,10-Methylenetetrahydrofolate reductase (MTHFR), a key enzyme of one-carbon metabolism, catalyses the irreversible conversion of 5,10-..
  25. Dekou V, Gudnason V, Hawe E, Miller G, Stansbie D, Humphries S. Gene-environment and gene-gene interaction in the determination of plasma homocysteine levels in healthy middle-aged men. Thromb Haemost. 2001;85:67-74 pubmed
    ..for plasma total homocysteine levels and genotyped for the A222V polymorphism in the methylene-tetrahydrofolate (MTHFR) gene, the 68 bp insertion polymorphism in exon 8 of the cystathionine b synthase (CBS) gene and the D919G ..
  26. Xu X, Gammon M, Zhang H, Wetmur J, Rao M, Teitelbaum S, et al. Polymorphisms of one-carbon-metabolizing genes and risk of breast cancer in a population-based study. Carcinogenesis. 2007;28:1504-9 pubmed
    ..We previously reported that polymorphisms in methylenetetrahydrofolate reductase (MTHFR) in one-carbon pathway were associated with breast cancer risk in the population-based Long ..
  27. Haggarty P, Campbell D, Duthie S, Andrews K, Hoad G, Piyathilake C, et al. Folic acid use in pregnancy and embryo selection. BJOG. 2008;115:851-6 pubmed publisher
    ..We measured the genotype (MTHFR C677T and A1298C, MTR A2756G, MTRR A66G and TCN G776C) of mothers and their offspring, maternal supplement intake, ..
  28. Kim S, Song J, Joo E, Jeong S, Kim S, Lee K, et al. No association of functional polymorphisms in methlylenetetrahydrofolate reductase and the risk and minor physical anomalies of schizophrenia in Korean population. J Korean Med Sci. 2011;26:1356-63 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism, plays an important role in DNA methylation...
  29. Chen J, Giovannucci E, Kelsey K, Rimm E, Stampfer M, Colditz G, et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res. 1996;56:4862-4 pubmed
    We examined the relationship of a common polymorphism (667C-->T) of the methylenetetrahydrofolate reductase (MTHFR) gene with the risk of colorectal cancer in a case-control study conducted in the Health Professionals Follow-up Study...
  30. Hefler L, Jirecek S, Heim K, Grimm C, Antensteiner G, Zeillinger R, et al. Genetic polymorphisms associated with thrombophilia and vascular disease in women with unexplained late intrauterine fetal death: a multicenter study. J Soc Gynecol Investig. 2004;11:42-4 pubmed
    ..of thrombophilic and vascular genes (factor V Leiden, factor V H1299R, prothrombin G20210A, factor XIII V34L, MTHFR C677T, MTHFR A1298C, beta-fibrinogen-455 G to A, PAI-1 4G/5G, GPIIIa L33P, HFE C282Y, apolipoprotein B R3500Q, and ..
  31. Huang Z, Hua D, Li L. The polymorphisms of TS and MTHFR predict survival of gastric cancer patients treated with fluorouracil-based adjuvant chemotherapy in Chinese population. Cancer Chemother Pharmacol. 2009;63:911-8 pubmed publisher
    The aim of this study was to investigate the association of the thymidylate synthase (TS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms with the clinical outcomes of gastric cancer patients treated with 5-FU-based ..
  32. Reeves S, Meldrum C, Groombridge C, Spigelman A, Suchy J, Kurzawski G, et al. MTHFR 677 C>T and 1298 A>C polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer. Eur J Hum Genet. 2009;17:629-35 pubmed publisher
    ..Alterations in the kinetics of methylene tetrahydrofolate reductase (MTHFR) due to the presence of polymorphisms in the MTHFR gene have been associated with an increased risk of colorectal ..
  33. García Miss M, Perez Mutul J, López Canul B, Solís Rodríguez F, Puga Machado L, Oxté Cabrera A, et al. Folate, homocysteine, interleukin-6, and tumor necrosis factor alfa levels, but not the methylenetetrahydrofolate reductase C677T polymorphism, are risk factors for schizophrenia. J Psychiatr Res. 2010;44:441-6 pubmed publisher
    The methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated to high homocysteine levels and schizophrenia...
  34. Lea R, Ovcaric M, Sundholm J, Solyom L, MacMillan J, Griffiths L. Genetic variants of angiotensin converting enzyme and methylenetetrahydrofolate reductase may act in combination to increase migraine susceptibility. Brain Res Mol Brain Res. 2005;136:112-7 pubmed
    ..is involved in migraine risk and whether this variant might act in combination with the previously implicated MTHFR C677T genetic variant in 270 migraine cases and 270 matched controls...
  35. Rubini M, Padovan M, Baricordi O, Fotinidi M, Govoni M, Trotta F. The c.1298A>C polymorphism in the methylenetetrahydrofolate reductase gene is associated with rheumatoid arthritis susceptibility in Italian patients. Clin Exp Rheumatol. 2008;26:163 pubmed
  36. Martínez de Villarreal L, Delgado Enciso I, Valdez Leal R, Ortiz Lopez R, Rojas Martinez A, Limón Benavides C, et al. Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study. Arch Med Res. 2001;32:277-82 pubmed
    ..of homocysteine to methionine as folate deficiency and the mutation 677T in the N(5),N(10)-methylenetetrahydrofolate reductase gene (MTHFR)...
  37. Deligezer U, Akisik E, Dalay N. Genotyping of the MTHFR gene polymorphism, C677T in patients with leukemia by melting curve analysis. Mol Diagn. 2003;7:181-5 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in folate metabolism and displays common genetic polymorphisms affecting the enzyme activity...
  38. Zetterberg M, Tasa G, Palmér M, Juronen E, Toover E, Blennow K, et al. Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma. Ophthalmic Genet. 2007;28:47-50 pubmed
    ..of the present study was to determine if hyperhomocysteinemia-associated polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR) are overrepresented in primary open-angle glaucoma...
  39. Clement C, Goldberg I, Healey P, Graham S. Plasma homocysteine, MTHFR gene mutation, and open-angle glaucoma. J Glaucoma. 2009;18:73-8 pubmed publisher
    ..In this study, we have measured plasma homocysteine and C677T methylenetetrahydrofolate reductase (MTHFR) mutation, the commonest genetic cause of elevated plasma homocysteine, in patients with ..
  40. Canataroglu A, Tanriverdi K, Inal T, Seydaoglu G, Arslan D, Ozbek S, et al. Methylenetetrahydrofolate reductase gene C677T mutation and plasma homocysteine level in Behçet's disease. Rheumatol Int. 2003;23:236-40 pubmed
    The aim of this study was to assess whether homozygosity for the 5, 10-methylenetetrahydrofolate reductase (MTHFR) C677T mutation and plasma homocysteine concentration are related to deep vein thrombosis in Behçet's disease (BD) ..
  41. Relton C, Wilding C, Laffling A, Jonas P, Burgess T, Binks K, et al. Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy. Mol Genet Metab. 2004;81:273-81 pubmed
    ..b>MTHFR 677C >T, MTHFR 1298A >C, MTRR 66A >G, SHMT 1420C >T, CbetaS 844ins68, and RFC-1 80G >A allele and ..
  42. Almeida O, Flicker L, Lautenschlager N, Leedman P, Vasikaran S, van Bockxmeer F. Contribution of the MTHFR gene to the causal pathway for depression, anxiety and cognitive impairment in later life. Neurobiol Aging. 2005;26:251-7 pubmed
    ..influenced by factors such as age, vitamin deficiency, renal function, and a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, where cytosine is replaced by thymidine (C-->T) at nucleotide position 677...
  43. Lacasaña Navarro M, Galvan Portillo M, Chen J, López Cervantes M, Lopez Carrillo L. Methylenetetrahydrofolate reductase 677C>T polymorphism and gastric cancer susceptibility in Mexico. Eur J Cancer. 2006;42:528-33 pubmed
    This study investigated whether methylenetetrahydrofolate reductase MTHFR 677C>T polymorphism modified gastric cancer (GC) risk independently as well as in combination with folate intake and alcohol consumption...
  44. Komitopoulou A, Platokouki H, Kapsimali Z, Pergantou H, Adamtziki E, Aronis S. Mutations and polymorphisms in genes affecting hemostasis proteins and homocysteine metabolism in children with arterial ischemic stroke. Cerebrovasc Dis. 2006;22:13-20 pubmed
    ..FVL, FV H1298R-FVR2, FII 20210A, b-Fib 455G>A, FXIII V34L, PAI-1 4G, HPA-1b) or homocysteine metabolism (MTHFR C677T, MTHFR A1298C) among 90 children with arterial ischemic stroke (AIS) and 103 controls, and to associate the ..
  45. Antoniades C, Shirodaria C, Leeson P, Baarholm O, Van Assche T, Cunnington C, et al. MTHFR 677 C>T Polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosis. Circulation. 2009;119:2507-15 pubmed publisher
    ..We used the methyl tetrahydrofolate reductase (MTHFR) gene polymorphism 677C>T as a model of chronic exposure of the vascular wall to varying 5-MTHF levels in 218 ..
  46. Karpinski P, Myszka A, Ramsey D, Misiak B, Gil J, Laczmanska I, et al. Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype. Cancer Epidemiol. 2010;34:338-44 pubmed publisher
    ..We examined the potential association between the polymorphisms of MTHFR 677C>T, TS 5'UTR 2R/3R, TS 3'UTR 1494del6, DeltaDNMT3B -149C>T and DNMT3B -283T>C in a group of 46 CIMP+ ..
  47. Prince J, Feuk L, Sawyer S, Gottfries J, Ricksten A, Nagga K, et al. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. Eur J Hum Genet. 2001;9:437-44 pubmed
    ..butyrylcholinesterase (BCHE), Fe65 (APBB1), oestrogen receptor alpha (ESR1), cathepsin D (CTSD), methylenetetrahydrofolate reductase (MTHFR), and interleukin 1A (IL1A)...
  48. Esfahani S, Cogger E, Caudill M. Heterogeneity in the prevalence of methylenetetrahydrofolate reductase gene polymorphisms in women of different ethnic groups. J Am Diet Assoc. 2003;103:200-7 pubmed
    To determine the prevalence of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in women of different ethnic groups and to relate these common mutations to plasma homocysteine, red cell folate, and serum folate...
  49. De Maat M, Jansen M, Hille E, Vos H, Bloemenkamp K, Buitendijk S, et al. Preeclampsia and its interaction with common variants in thrombophilia genes. J Thromb Haemost. 2004;2:1588-93 pubmed
    ..type 1 [PAI-1 -675(4G/5G)], thrombin activatable fibrinolysis inhibitor (TAFI -438G/A and 1040C/T), methylenetetrahydrofolate reductase (MTHFR 677C/T), factor V (FV Leiden R/Q506), prothrombin (FII 20210G/A) and factor XIIIA (FXIIIA V/..
  50. Hernandez diaz S, Wu X, Hayes C, Werler M, Ashok T, Badovinac R, et al. Methylenetetrahydrofolate reductase polymorphisms and the risk of gestational hypertension. Epidemiology. 2005;16:628-34 pubmed
    Evidence on the association of 5,10 methylentetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in women with gestational hypertension is inconsistent...
  51. Banerjee I, Gupta V, Ganesh S. Association of gene polymorphism with genetic susceptibility to stroke in Asian populations: a meta-analysis. J Hum Genet. 2007;52:205-19 pubmed
    ..We performed a meta-analysis of the three most investigated genes, viz., methylenetetrahydrofolate reductase (MTHFR), apolipoprotein E (ApoE) and angiotensin-converting enzyme (ACE)...
  52. Elkins J, Johnston S, Ziv E, Kado D, Cauley J, Yaffe K. Methylenetetrahydrofolate reductase C677T polymorphism and cognitive function in older women. Am J Epidemiol. 2007;166:672-8 pubmed
    Homocysteine may play a causal role in cognitive decline. The authors analyzed the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T genotype, a correlate of plasma homocysteine levels, among 6,653 participants in the Study of ..
  53. Fohr I, Prinz Langenohl R, Brönstrup A, Bohlmann A, Nau H, Berthold H, et al. 5,10-Methylenetetrahydrofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women. Am J Clin Nutr. 2002;75:275-82 pubmed
    ..The polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase (FADH(2)) (MTHFR) influences the tHcy concentration and the response to tHcy-lowering therapy...
  54. Davalos I, Moran M, Martinez Abundis E, Gonzalez Ortiz M, Flores Martinez S, Machorro V, et al. Methylenetetrahydrofolate reductase C677T polymorphism and Factor V Leiden variant in Mexican women with preeclampsia/eclampsia. Blood Cells Mol Dis. 2005;35:66-9 pubmed
    ..A common missense mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with increased plasma homocysteine concentrations...
  55. Luo D, Yan S, Cheng X, Song Y. [Levels of homocysteine and polymorphisms of homocysteine metabolism-related enzymes in patients with type 2 diabetes mellitus and coronary heart disease]. Wei Sheng Yan Jiu. 2009;38:39-42 pubmed
    To explore the significance of Hey, the gene polymorphisms of methylenetetrahydrofolate reductase (MTHFR) C677 T and cystathionine beta- synthase (CBS844) ins68 in type 2 diabetes mellitus (DM) with coronary heart disease (CHD) in China...
  56. Zhong J, Rodriguez A, Yang N, Li L. Methylenetetrahydrofolate reductase gene polymorphism and risk of type 2 diabetes mellitus. PLoS ONE. 2013;8:e74521 pubmed publisher
    ..examining a possible link between the rs1801133 polymorphism (677C ? T) in the gene encoding the methylenetetrahydrofolate reductase (MTHFR) gene and risk of type 2 diabetes mellitus (DM)...
  57. Keku T, Millikan R, Worley K, Winkel S, Eaton A, Biscocho L, et al. 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites. Cancer Epidemiol Biomarkers Prev. 2002;11:1611-21 pubmed
    We evaluated polymorphisms in methylenetetrahydrofolate reductase (MTHFR), folate intake and alcohol consumption in relation to risk of colon cancer in a population-based case-control study in North Carolina...
  58. Khazamipour N, Noruzinia M, Fatehmanesh P, Keyhanee M, Pujol P. MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility. Hum Reprod. 2009;24:2361-4 pubmed publisher
    The causative mechanisms of male infertility are still poorly understood. Mutations in the Methylenetetrahydrofolate reductase (MTHFR) gene have been shown to be involved in male infertility; however, other mechanisms of pathogenesis, ..
  59. Sangrajrang S, Sato Y, Sakamoto H, Ohnami S, Khuhaprema T, Yoshida T. Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women. Breast Cancer Res Treat. 2010;123:885-93 pubmed publisher
    ..Twenty-seven single nucleotide polymorphisms (SNPs) in the MTR, MTRR, MTHFR, TYMS, ADH1C, ALDH2, GSTP1, NAT1, NAT2, CYP2E1 DRD2, DRD3, and SLC6A4 were genotyped...
  60. Zhang M, Miao L, Li Y, Hu G. Meta-analysis of the methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to Alzheimer's disease. Neurosci Res. 2010;68:142-50 pubmed publisher
    No clear consensus has been reached at the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and Alzheimer's disease (AD) risk...
  61. Saffroy R, Pham P, Chiappini F, Gross Goupil M, Castera L, Azoulay D, et al. The MTHFR 677C > T polymorphism is associated with an increased risk of hepatocellular carcinoma in patients with alcoholic cirrhosis. Carcinogenesis. 2004;25:1443-8 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, plays a major role in the provision of methyl groups for DNA methylation and in the production of dTMP for DNA synthesis...
  62. Figueiredo J, Levine A, Grau M, Midttun O, Ueland P, Ahnen D, et al. Vitamins B2, B6, and B12 and risk of new colorectal adenomas in a randomized trial of aspirin use and folic acid supplementation. Cancer Epidemiol Biomarkers Prev. 2008;17:2136-45 pubmed publisher
    ..When we examined specific gene-B-vitamin interactions, we observed a possible interaction between methylenetetrahydrofolate reductase -C677T and plasma B(2) on risk of all adenomas...
  63. Cohen Woods S, Craig I, Gaysina D, Gray J, Gunasinghe C, Craddock N, et al. The Bipolar Association Case-Control Study (BACCS) and meta-analysis: No association with the 5,10-Methylenetetrahydrofolate reductase gene and bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:1298-304 pubmed publisher
    ..5,10-Methylenetetrahydrofolate reductase (MTHFR) is a crucial enzyme in folate-mediated one-carbon metabolism and folate deficiency can be ..
  64. Santos M, das C L E Silva F, Gomes K, Fernandes A, Freitas F, Faria M, et al. Mutations in methylenetetrahydrofolate reductase and in cysthationine beta synthase: is there a link to homocysteine levels in peripheral arterial disease?. Mol Biol Rep. 2011;38:3361-6 pubmed publisher
    ..The present study aimed to investigate whether mutations in the methylenetetrahydrofolate reductase (MTHFR) or in the cystathionine beta synthase (CBS) genes are associated with higher levels of ..
  65. Sharp L, Little J, Brockton N, Cotton S, Masson L, Haites N, et al. Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, intakes of folate and related B vitamins and colorectal cancer: a case-control study in a population with relatively low folate intake. Br J Nutr. 2008;99:379-89 pubmed
    ..one-carbon metabolism requires other B vitamins and the optimal activity of enzymes including 5,10-methylenetetrahydrofolate reductase (MTHFR)...
  66. Ravel C, Chantot Bastaraud S, Chalmey C, Barreiro L, Aknin Seifer I, Pfeffer J, et al. Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts. PLoS ONE. 2009;4:e6540 pubmed publisher
    ..Notably, the gene Methylenetetrahydrofolate reductase (MTHFR) in which the homozygous (TT) state of the polymorphism c.665C>T (p...
  67. Xuan C, Bai X, Gao G, Yang Q, He G. Association between polymorphism of methylenetetrahydrofolate reductase (MTHFR) C677T and risk of myocardial infarction: a meta-analysis for 8,140 cases and 10,522 controls. Arch Med Res. 2011;42:677-85 pubmed publisher
    The methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism has been reported to be associated with myocardial infarction (MI), but results from previous studies are conflicting...
  68. Girelli D, Martinelli N, Pizzolo F, Friso S, Olivieri O, Stranieri C, et al. The interaction between MTHFR 677 C-->T genotype and folate status is a determinant of coronary atherosclerosis risk. J Nutr. 2003;133:1281-5 pubmed
    The 677 C-->T polymorphism in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene interacts with folate status in determining elevated total plasma levels of homocysteine, a risk factor for coronary atherosclerotic disease (CAD)...
  69. Kim R, Becker R. Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. Am Heart J. 2003;146:948-57 pubmed
    ..case-control and cohort studies correlating the factor V Leiden, prothrombin (PT) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T (TT genotype) mutations with myocardial infarction, ischemic stroke, or peripheral ..
  70. Boyles A, Billups A, Deak K, Siegel D, Mehltretter L, Slifer S, et al. Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions. Environ Health Perspect. 2006;114:1547-52 pubmed
    ..II, methylenetetrahydrofolate dehydrogenase 1, serine hydroxymethyl-transferase 1, 5,10-methylenetetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homo-cysteine methyltransferase, 5-methyltetrahydrofolate-..
  71. Kim J, Stewart R, Kim S, Yang S, Shin I, Shin H, et al. Methylenetetrahydrofolate reductase gene and risk of Alzheimer's disease in Koreans. Int J Geriatr Psychiatry. 2008;23:454-9 pubmed
    The association between methylenetetrahydrofolate reductase (MTHFR) c.677C>T (A222V) polymorphism and Alzheimer's disease (AD) is controversial. The objectives of the study were to investigate the association between MTHFR c...
  72. Herak D, Antolic M, Krleza J, Pavic M, Dodig S, Duranovic V, et al. Inherited prothrombotic risk factors in children with stroke, transient ischemic attack, or migraine. Pediatrics. 2009;123:e653-60 pubmed publisher
    ..We performed genotypic analysis for factor V G1691A, factor II G20210A, methylenetetrahydrofolate reductase C677T, and 4 common platelet glycoprotein polymorphisms (human platelet alloantigen-1, -2, -3, and -..
  73. Vaughn J, Bailey L, Shelnutt K, Dunwoody K, Maneval D, Davis S, et al. Methionine synthase reductase 66A->G polymorphism is associated with increased plasma homocysteine concentration when combined with the homozygous methylenetetrahydrofolate reductase 677C->T variant. J Nutr. 2004;134:2985-90 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) are important for homocysteine remethylation...
  74. Deligezer U, Akisik E, Dalay N. Homozygosity at the C677T of the MTHFR gene is associated with increased breast cancer risk in the Turkish population. In Vivo. 2005;19:889-93 pubmed
    Folate deficiency is implicated in cancer development. Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene can modulate the effect of folate...