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. Wu H, Chang C, Tsai R, Lin C, Wang R, Tsai C, et al. Significant association of methylenetetrahydrofolate reductase single nucleotide polymorphisms with prostate cancer susceptibility in taiwan. Anticancer Res. 2010;30:3573-7 pubmed
    ..Methylene tetrahydrofolate reductase (MTHFR) plays an important role in folate metabolism and is also an important source of DNA methylation and DNA synthesis ..
  2. Liao Y, Bao M, Liu C, Liu H, Zhang D. [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]. Yi Chuan. 2010;32:461-6 pubmed
    To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), reduced folate carrier1 (RFC-1), methionine synthase (MTR) involved in folate metabolism and ..
  3. 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...
  4. 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...
  5. 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)...
  6. 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...
  7. 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...
  8. 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 ..
  9. 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 ..
  10. 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...

Detail Information

Publications112 found, 100 shown here

  1. Wu H, Chang C, Tsai R, Lin C, Wang R, Tsai C, et al. Significant association of methylenetetrahydrofolate reductase single nucleotide polymorphisms with prostate cancer susceptibility in taiwan. Anticancer Res. 2010;30:3573-7 pubmed
    ..Methylene tetrahydrofolate reductase (MTHFR) plays an important role in folate metabolism and is also an important source of DNA methylation and DNA synthesis ..
  2. Liao Y, Bao M, Liu C, Liu H, Zhang D. [Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women]. Yi Chuan. 2010;32:461-6 pubmed
    To explore the relationship between genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), reduced folate carrier1 (RFC-1), methionine synthase (MTR) involved in folate metabolism and ..
  3. 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...
  4. 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...
  5. 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)...
  6. 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...
  7. 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...
  8. 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 ..
  9. 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 ..
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. 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 ..
  18. 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...
  19. 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...
  20. 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 ..
  21. 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 ..
  22. 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 ..
  23. 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+ ..
  24. 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)...
  25. 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/..
  26. 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...
  27. 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)...
  28. 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...
  29. 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...
  30. 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, ..
  31. 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...
  32. 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...
  33. 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 ..
  34. 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...
  35. 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-..
  36. 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...
  37. 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 -..
  38. 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...
  39. Kotsopoulos J, Zhang W, Zhang S, McCready D, Trudeau M, Zhang P, et al. Polymorphisms in folate metabolizing enzymes and transport proteins and the risk of breast cancer. Breast Cancer Res Treat. 2008;112:585-93 pubmed publisher
    ..We observed no association between the MTHFR, RFC, MS and MTRR genotypes and the risk of breast cancer...
  40. van der Put N, Gabreels F, Stevens E, Smeitink J, Trijbels F, Eskes T, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. Am J Hum Genet. 1998;62:1044-51 pubmed
    Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs)...
  41. Ravera M, Viazzi F, Berruti V, Leoncini G, Zagami P, Bezante G, et al. 5,10-Methylenetetrahydrofolate reductase polymorphism and early organ damage in primary hypertension. Am J Hypertens. 2001;14:371-6 pubmed
    ..A point mutation (cytosine to thymidine substitution; C677T) in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) makes the enzyme thermolabile and has been associated with elevated homocyst(e)ine levels ..
  42. Chen J, Gammon M, Chan W, Palomeque C, Wetmur J, Kabat G, et al. One-carbon metabolism, MTHFR polymorphisms, and risk of breast cancer. Cancer Res. 2005;65:1606-14 pubmed
    ..e., methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C] on breast cancer risk...
  43. Zintzaras E. Association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms with genetic susceptibility to gastric cancer: a meta-analysis. J Hum Genet. 2006;51:618-24 pubmed
    To clarify the influence of MTHFR C677T and A1298C polymorphisms on gastric cancer (GC), a meta-analysis of eight case-control studies (1,584/2,785 cases/controls) was carried out...
  44. Shekari M, Sobti R, Kordi Tamandani D, Suri V. Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian population. Arch Gynecol Obstet. 2008;278:517-24 pubmed publisher
    Cervical cancer continues to be the most common cause of death among women in developing countries. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are critical enzymes of folate metabolic pathways...
  45. McColgan P, Sharma P. The genetics of carotid dissection: meta-analysis of a MTHFR/C677T common molecular variant. Cerebrovasc Dis. 2008;25:561-5 pubmed publisher
    ..Homocysteine levels are partly determined by a thermolibile form of methyltetrahydrofolate reductase (MTHFR) which has a common C677T single nucleotide polymorphism (SNP)...
  46. Houcher B, Bourouba R, Djabi F, Yilmaz E, Egin Y, Akar N. Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria. Pediatr Neurosurg. 2009;45:472-7 pubmed publisher
    ..of gene-gene interactions regarding the possible association of NTD with specific mutations of 5,10-methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genes...
  47. Tong S, Kim M, Lee J, Lee J, CHOI S, Friso S, et al. Common polymorphisms in methylenetetrahydrofolate reductase gene are associated with risks of cervical intraepithelial neoplasia and cervical cancer in women with low serum folate and vitamin B12. Cancer Causes Control. 2011;22:63-72 pubmed publisher
    We evaluated associations between folate, vitamin B12, and the methylenetetrahydrofolate reductase (MTHFR) gene, and risk of cervical intraepithelial neoplasia (CIN) and cervical cancer...
  48. Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab. 1998;64:169-72 pubmed
    A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with reduced activity...
  49. D Elia A, Driul L, Giacomello R, Colaone R, Fabbro D, Di Leonardo C, et al. Frequency of factor V, prothrombin and methylenetetrahydrofolate reductase gene variants in preeclampsia. Gynecol Obstet Invest. 2002;53:84-7 pubmed
    ..of the factor V gene, G20210A mutation of the prothrombin gene and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene) with preeclampsia was investigated in a north-eastern Italian population...
  50. Kölling K, Ndrepepa G, Koch W, Braun S, Mehilli J, Schomig A, et al. Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms, plasma homocysteine, folate, and vitamin B12 levels and the extent of coronary artery disease. Am J Cardiol. 2004;93:1201-6 pubmed
    ..We investigated whether there is a link between methylenetetrahydrofolate reductase (MTHFR) gene C677T and A1298C polymorphisms or plasma homocysteine and CAD...
  51. Dedoussis G, Panagiotakos D, Pitsavos C, Chrysohoou C, Skoumas J, Choumerianou D, et al. An association between the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and inflammation markers related to cardiovascular disease. Int J Cardiol. 2005;100:409-14 pubmed
    ..The methylenetetrahydrofolate reductase (MTHFR) C677T genotype, a common polymorphism that induces hyperhomocysteinaemia, has been proposed ..
  52. Chwatko G, Boers G, Strauss K, Shih D, Jakubowski H. Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice. FASEB J. 2007;21:1707-13 pubmed
    ..elevated 59-fold and 72-fold in human patients with hyperhomocysteinemia secondary to mutations in methylenetetrahydrofolate reductase and cystathionine beta-synthase genes, respectively...
  53. Boccia S, Hung R, Ricciardi G, Gianfagna F, Ebert M, Fang J, et al. Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a huge-GSEC review. Am J Epidemiol. 2008;167:505-16 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the metabolism of folate, whose role in gastric carcinogenesis is controversial...
  54. DeVos L, Chanson A, Liu Z, Ciappio E, Parnell L, Mason J, et al. Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations. Am J Clin Nutr. 2008;88:1149-58 pubmed
    ..folate polyglutamate synthase (FPGS), gamma-glutamyl hydrolase (GGH), methylene tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), proton-coupled folate transporter (PCFT), and reduced folate carrier (RFC1), were ..
  55. Camprubí C, Pladevall M, Grossmann M, Garrido N, Pons M, Blanco J. Lack of association of MTHFR rs1801133 polymorphism and CTCFL mutations with sperm methylation errors in infertile patients. J Assist Reprod Genet. 2013;30:1125-31 pubmed publisher
    To find out whether the MTHFR rs1801133 polymorphism is a risk factor for male infertility in the Spanish population...
  56. Benes P, Kankova K, Muzik J, Groch L, Benedik J, Elbl L, et al. Methylenetetrahydrofolate reductase polymorphism, type II diabetes mellitus, coronary artery disease, and essential hypertension in the Czech population. Mol Genet Metab. 2001;73:188-95 pubmed
    ..The 677C/T methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is related to the MTHFR enzyme activity and to the plasma homocysteine ..
  57. Boyd S, Owens D, Gin T, Bunce K, Sherafat H, Perry D, et al. Plasma homocysteine, methylene tetrahydrofolate reductase C677T and factor II G20210A polymorphisms, factor VIII, and VWF in central retinal vein occlusion. Br J Ophthalmol. 2001;85:1313-5 pubmed
    To determine whether plasma homocysteine, methylene tetrahydrofolate reductase (MTHFR) C677T and factor II G20210A polymorphisms, factor VIII, and vWF are risk factors for central retinal vein occlusion (CRVO)...
  58. De Marco P, Calevo M, Moroni A, Merello E, Raso A, Finnell R, et al. Reduced folate carrier polymorphism (80A-->G) and neural tube defects. Eur J Hum Genet. 2003;11:245-52 pubmed
    ..Furthemore, according to the multifactorial inheritance of NTDs, we demonstrated that the combined genotypes for MTHFR 1298A-->C and RFC-1 80A-->G polymorphisms of cases resulted in greater NTD risk than heterozygosity or ..
  59. Jiang Q, Chen K, Ma X, Li Q, Yu W, Shu G, et al. Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect Prev. 2005;29:146-54 pubmed
    ..of environmental factors (dietary folate, methionine and drinking status) and polymorphisms in the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) gene, as well as the combination of these factors, with the risk of colon ..
  60. Roffman J, Weiss A, Deckersbach T, Freudenreich O, Henderson D, Wong D, et al. Interactive effects of COMT Val108/158Met and MTHFR C677T on executive function in schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:990-5 pubmed publisher
    ..Two common, functional polymorphisms, catechol-O-methyltransferase (COMT) Val108/158Met and methylenetetrahydrofolate reductase (MTHFR) C677T, have separately been associated with executive function performance in schizophrenia...
  61. Ford A, Flicker L, Hankey G, Norman P, van Bockxmeer F, Almeida O. Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism and cognitive impairment: the health in men study. Mol Psychiatry. 2012;17:559-66 pubmed publisher
    ..The C677T polymorphism of the 5,10 methylenetetrahydrofolate reductase gene (MTHFR) increases basal tHcy, but its contribution to cognitive impairment has not been ..
  62. Papandreou C, Doxani C, Zdoukopoulos N, Vlachostergios P, Hatzidaki E, Bakalos G, et al. Evidence of association between methylenetetrahydrofolate reductase gene and susceptibility to breast cancer: a candidate-gene association study in a South-eastern European population. DNA Cell Biol. 2012;31:193-8 pubmed publisher
    The methylenetetrahydrofolate reductase (MTHFR) gene has been proposed as a candidate gene for breast cancer (BC). However, the specific role of MTHFR polymorphisms and haplotypes has not been fully clarified and replicated...
  63. Mehlig K, Leander K, de Faire U, Nyberg F, Berg C, Rosengren A, et al. The association between plasma homocysteine and coronary heart disease is modified by the MTHFR 677C>T polymorphism. Heart. 2013;99:1761-5 pubmed publisher
    ..The methylene tetrahydrofolate reductase (MTHFR) 677C>T polymorphism (rs1801133) is among the strongest genetic predictors of tHcy...
  64. Bailey L, Duhaney R, Maneval D, Kauwell G, Quinlivan E, Davis S, et al. Vitamin B-12 status is inversely associated with plasma homocysteine in young women with C677T and/or A1298C methylenetetrahydrofolate reductase polymorphisms. J Nutr. 2002;132:1872-8 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) polymorphisms may negatively influence one-carbon metabolism and increase health risks in women of reproductive age...
  65. Moczulski D, Fojcik H, Zukowska Szczechowska E, Szydlowska I, Grzeszczak W. Effects of the C677T and A1298C polymorphisms of the MTHFR gene on the genetic predisposition for diabetic nephropathy. Nephrol Dial Transplant. 2003;18:1535-40 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is a regulatory enzyme of homocysteine metabolism...
  66. Dikmen M, Ozbabalik D, Gunes H, Degirmenci I, Bal C, Ozdemir G, et al. Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms. Acta Neurol Scand. 2006;113:307-14 pubmed
    Some methylenetetrahydrofolate reductase (MTHFR) gene mutations cause hyperhomocysteinemia and homocystinuria. These may be important risk factors for cardio and cerebrovascular diseases...
  67. Verkleij Hagoort A, Bliek J, Sayed Tabatabaei F, Ursem N, Steegers E, Steegers Theunissen R. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. Am J Med Genet A. 2007;143A:952-60 pubmed
    Several studies have reported an association between hyperhomocysteinemia, 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and cleft lip with or without cleft palate (CLP), and congenital heart defects (CHDs)...
  68. Knechtel G, HOFMANN G, Gerger A, Renner W, Langsenlehner T, Szkandera J, et al. Analysis of common germline polymorphisms as prognostic factors in patients with lymph node-positive breast cancer. J Cancer Res Clin Oncol. 2010;136:1813-9 pubmed publisher
    ..013, RR 1.841, CI 1.140-2.973). No association was found for MTHFR 677C>T, VEGF 936C>T, CCND1 870G>A, TGFB1 29T>C, FASLG 844C>T, FAS 670A>G, GPB3 825C>T, ITGA2 ..
  69. Kawamoto R, Kohara K, Tabara Y, Miki T, Doi T, Tokunaga H, et al. An association of 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and common carotid atherosclerosis. J Hum Genet. 2001;46:506-10 pubmed
    ..homocysteine (Hcy) concentration has been shown to be influenced by a mutation in the gene coding methylenetetrahydrofolate reductase (MTHFR)...
  70. Scaglione L, Gambino R, Rolfo E, Lillaz E, Gai M, Cassader M, et al. Plasma homocysteine, methylenetetrahydrofolate reductase gene polymorphism and carotid intima-media thickness in Italian type 2 diabetic patients. Eur J Clin Invest. 2002;32:24-8 pubmed
    ..The role of methylenetetrahydrofolate reductase gene polymorphism is less clear...
  71. Lambropoulos A, Agorastos T, Foka Z, Chrisafi S, Constantinidis T, Bontis J, et al. Methylenetetrahydrofolate reductase polymorphism C677T is not associated to the risk of cervical dysplasia. Cancer Lett. 2003;191:187-91 pubmed
    The aim of the study was to explore a possible association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and cervical neoplasia. A total of 229 women were subjected to cytologic and colposcopic evaluation...
  72. Chiusolo P, Reddiconto G, Cimino G, Sica S, Fiorini A, Farina G, et al. Methylenetetrahydrofolate reductase genotypes do not play a role in acute lymphoblastic leukemia pathogenesis in the Italian population. Haematologica. 2004;89:139-44 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes involved in folate metabolism and DNA methylation and synthesis. Some genotypes of this highly polymorphic enzyme are associated with decreased activity...
  73. Beilby J, Ingram D, Hahnel R, Rossi E. Reduced breast cancer risk with increasing serum folate in a case-control study of the C677T genotype of the methylenetetrahydrofolate reductase gene. Eur J Cancer. 2004;40:1250-4 pubmed
    Breast cancer risk may be associated with folate status or the C677T genotype of the methylenetetrahydrofolate reductase (MTHFR) gene...
  74. Yu L, Li T, Robertson Z, Dean J, Gu N, Feng G, et al. No association between polymorphisms of methylenetetrahydrofolate reductase gene and schizophrenia in both Chinese and Scottish populations. Mol Psychiatry. 2004;9:1063-5 pubmed
  75. Also Rallo E, Lopez Quesada E, Urreizti R, Vilaseca M, Lailla J, Balcells S, et al. Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies. Eur J Obstet Gynecol Reprod Biol. 2005;120:45-52 pubmed
    ..studies: tHcy and other amino acids, folate and vitamin B(12) and polymorphisms: 677C > T and 1298A > C (MTHFR); 699C > T, 844ins68 and 1080C > T (CBS); 2756A > G (MTR); and 66G > A, IVS1+766G > A and IVS1+754A ..
  76. Bentley A, Raiszadeh F, Stover P, Hunter D, Hankinson S, Cassano P. No association between cSHMT genotypes and the risk of breast cancer in the Nurses' Health Study. Eur J Clin Nutr. 2010;64:108-10 pubmed publisher
    ..breast cancer risk has been observed with both low folate status and a functional polymorphism in methylenetetrahydrofolate reductase (MTHFR 677C --> T)...
  77. Zhang C, Xie B, Du Y, Cheng W, Fang Y, Yu S. Further evidence that methylenetetrahydrofolate reductase A1298C polymorphism is a risk factor for schizophrenia. J Neural Transm (Vienna). 2010;117:1115-7 pubmed publisher
    Previous work suggests that the methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphism A1298C may be a risk factor for schizophrenia...