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. 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...
  2. 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 ..
  3. 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)...
  4. 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 ..
  5. 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 ..
  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. 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 ..
  8. 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...
  9. 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...

More Information

Publications218 found, 100 shown here

  1. 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)...
  2. 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)...
  3. 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...
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. Kimura F, Franke K, Steinhoff C, Golka K, Roemer H, Anastasiadis A, et al. Methyl group metabolism gene polymorphisms and susceptibility to prostatic carcinoma. Prostate. 2000;45:225-31 pubmed
    ..e., encoding methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MS), and beta-cystathione synthetase (CBS)...
  13. Scala I, Granese B, Sellitto M, Salomè S, Sammartino A, Pepe A, et al. Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. Genet Med. 2006;8:409-16 pubmed
    ..Increased risk of Down syndrome was associated with the methylenetetrahydrofolate reductase (MTHFR) 1298C allele (OR 1.46; 95% CI 1.02-2.10), the MTHFR 1298CC genotype (OR 2.29; 95% CI 1.06-4...
  14. Kaunisto M, Kallela M, Hamalainen E, Kilpikari R, Havanka H, Harno H, et al. Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura. Cephalalgia. 2006;26:1462-72 pubmed
    Among the few independently replicated genetic associations in migraine are polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) and oestrogen receptor (ESR1) genes...
  15. Lee Y, Cui J, Costenbader K, Shadick N, Weinblatt M, Karlson E. Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate. Rheumatology (Oxford). 2009;48:613-7 pubmed publisher
    ..2. We studied three candidate alleles in the ATIC, ITPA and MTHFR genes for association with DAS28-CRP...
  16. Naushad S, Devi A. Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India. J Perinat Med. 2010;38:63-9 pubmed publisher
    ..e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) ..
  17. Shen M, Rothman N, Berndt S, He X, Yeager M, Welch R, et al. Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China. Lung Cancer. 2005;49:299-309 pubmed
    ..02; 95% CI: 1.64-9.87), the 222Val allele of MTHFR (OR: 2.32; 95% CI: 1.34-4.03), and the C allele of SLC19A1 Pro232Pro (OR: 1.83; 95% CI: 1.02-3.28)...
  18. Kobashi G, Kato E, Morikawa M, Shimada S, Ohta K, Fujimoto S, et al. MTHFR C677T Polymorphism and factor V Leiden mutation are not associated with recurrent spontaneous abortion of unexplained etiology in Japanese women. Semin Thromb Hemost. 2005;31:266-71 pubmed
    To determine whether the C677T polymorphism of the methylenetetrahydrofolate reductase ( MTHFR) gene and the Leiden mutation of coagulation factor V (FV) are associated with recurrent spontaneous abortion (RSA) of unexplained etiology in ..
  19. Ruzzo A, Graziano F, Kawakami K, Watanabe G, Santini D, Catalano V, et al. Pharmacogenetic profiling and clinical outcome of patients with advanced gastric cancer treated with palliative chemotherapy. J Clin Oncol. 2006;24:1883-91 pubmed
    ..with fluorouracil/cisplatin palliative chemotherapy were used for genotyping 13 polymorphisms in nine genes (TS, MTHFR, XPD, ERCC1, XRCC1, XRCC3, GSTPI, GSTTI, GSTMI). Genotypes were correlated to response and survival...
  20. Zhang F, Terry M, Hou L, Chen J, Lissowska J, Yeager M, et al. Genetic polymorphisms in folate metabolism and the risk of stomach cancer. Cancer Epidemiol Biomarkers Prev. 2007;16:115-21 pubmed
    ..we evaluated the risk of stomach cancer in relation to polymorphisms in folate-metabolizing genes, including MTHFR (Ex5+79C>T and Ex8-62A>C), MTR (Ex26-20A>G), and MTRR (Ex2-64A>G, Ex5+123C>T, Ex15+572C>T, Ex15-..
  21. Summers C, Hammons A, Mitchell L, Woodside J, Yarnell J, Young I, et al. Influence of the cystathionine beta-synthase 844ins68 and methylenetetrahydrofolate reductase 677C>T polymorphisms on folate and homocysteine concentrations. Eur J Hum Genet. 2008;16:1010-3 pubmed publisher
    ..on homocysteine and folate concentrations was examined alone and in the context of the 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C>T polymorphism in a Northwestern European male population...
  22. Pihusch R, Buchholz T, Lohse P, Rubsamen H, Rogenhofer N, Hasbargen U, et al. Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. Am J Reprod Immunol. 2001;46:124-31 pubmed
    ..for factor V Leiden mutation (FVL), prothrombin G20210A mutation (PTM), C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, glycoprotein IIIa (GPIIIa) C1565T polymorphism, and beta-fibrinogen G-455A ..
  23. Sucker C, Kurschat C, Farokhzad F, Hetzel G, Grabensee B, Maruhn Debowski B, et al. The TT genotype of the C677T polymorphism in the methylentetrahydrofolate reductase as a risk factor in thrombotic microangiopathies: results from a pilot study. Clin Appl Thromb Hemost. 2009;15:283-8 pubmed publisher
    In this study, we assessed the potential role of the TT genotype of the gene of the methylenetetrahydrofolate reductase for the manifestation of thrombotic microangiopathies, enrolling 40 affected patients (mean age [+/- standard ..
  24. Moore L, Wiencke J, Bates M, Zheng S, Rey O, Smith A. Investigation of genetic polymorphisms and smoking in a bladder cancer case-control study in Argentina. Cancer Lett. 2004;211:199-207 pubmed
    We investigated the role of glutathione S-transferase (GST) enzymes (M1, T1), methylenetetrahydrofolate (MTHFR) 677 and 1298, and the NAD(P)H:quinone oxidoreductase (NQO1) polymorphisms in a population-based bladder cancer case-control ..
  25. Christensen K, Zada Y, Rohlicek C, Andelfinger G, Michaud J, Bigras J, et al. Risk of congenital heart defects is influenced by genetic variation in folate metabolism. Cardiol Young. 2013;23:89-98 pubmed publisher
    ..We examined the association of heart defects with four polymorphisms in folate-related genes (methylenetetrahydrofolate reductase (MTHFR) c.677C.T, MTHFR c.1298A.C, methionine synthase reductase (MTRR) c.66A...
  26. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch H, et al. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res. 2001;51:251-4 pubmed
    Recently, an association between the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in infants with congenital neural tube defects or congenital oral clefts has been shown...
  27. Toffoli G, Russo A, Innocenti F, Corona G, Tumolo S, Sartor F, et al. Effect of methylenetetrahydrofolate reductase 677C-->T polymorphism on toxicity and homocysteine plasma level after chronic methotrexate treatment of ovarian cancer patients. Int J Cancer. 2003;103:294-9 pubmed
    b>MTHFR is a critical enzyme that regulates the metabolism of folate and methionine, both of which are important factors in DNA methylation and synthesis...
  28. Oterino A, Valle N, Bravo Y, Munoz P, Sanchez Velasco P, Ruiz Alegria C, et al. MTHFR T677 homozygosis influences the presence of aura in migraineurs. Cephalalgia. 2004;24:491-4 pubmed
    ..We analysed the 5',10'-methylenetetrahydrofolate reductase (MTHFR) genotypic distribution in a large migraine sample...
  29. Wu X, Gu J, Wu T, Swisher S, Liao Z, Correa A, et al. Genetic variations in radiation and chemotherapy drug action pathways predict clinical outcomes in esophageal cancer. J Clin Oncol. 2006;24:3789-98 pubmed
    ..Understanding how specific genetic variants modify drug action pathways may provide informative blueprints for individualized chemotherapy...
  30. Sharma R, Hoskins J, Rivory L, Zucknick M, London R, Liddle C, et al. Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms and toxicity to capecitabine in advanced colorectal cancer patients. Clin Cancer Res. 2008;14:817-25 pubmed publisher
    To evaluate the effect of thymidylate synthase (TYMS) and methylenetetrahydrofolate reductase (MTHFR) genotypes on toxicity in patients treated with capecitabine for advanced colorectal cancer and to determine the effect of these ..
  31. Ng X, Boyd L, Dufficy L, Naumovski N, Blades B, Travers C, et al. Folate nutritional genetics and risk for hypertension in an elderly population sample. J Nutrigenet Nutrigenomics. 2009;2:1-8 pubmed publisher
    ..Of six polymorphisms (677C>T-MTHFR, 1298A>C-MTHFR, 80G>A-RFC, 2756A>G-MS, 66A>G- MSR, 19bpDHFR and 1561C>T-GCPII), only 677C>T-..
  32. Bertram L, McQueen M, Mullin K, Blacker D, Tanzi R. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007;39:17-23 pubmed
    ..we pinpointed over a dozen potential Alzheimer disease susceptibility genes (ACE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM and TNF) with statistically significant allelic summary odds ratios (ranging from 1...
  33. Guimarães J, Ayrizono M, Coy C, Lima C. Gene polymorphisms involved in folate and methionine metabolism and increased risk of sporadic colorectal adenocarcinoma. Tumour Biol. 2011;32:853-61 pubmed publisher
    This pilot study has compared the polymorphic genotype frequencies of methylenetetrahydrofolate reductase (MTHFR A1298C and C677T), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G), and thymidylate synthase (TS ..
  34. Luo Y, Cheng Y, Ye P, Wang W, Gao X, Chen Q. Association between MTHFR polymorphisms and orofacial clefts risk: a meta-analysis. Birth Defects Res A Clin Mol Teratol. 2012;94:237-44 pubmed publisher
    BACKGROUND The roles of C677T and A1298C polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene in orofacial clefts (OFCs) risk have been substantially explored, but the results remain conflicting...
  35. Pepe C, Guidugli L, Sensi E, Aretini P, D Andrea E, Montagna M, et al. Methyl group metabolism gene polymorphisms as modifier of breast cancer risk in Italian BRCA1/2 carriers. Breast Cancer Res Treat. 2007;103:29-36 pubmed
    ..The role of allele variants 677T and 1298C (MTHFR gene) and 2756G (MS gene) has been investigated as potentially modifying factors of BRCA gene penetrance, ..
  36. McGimpsey S, Woodside J, Cardwell C, Cahill M, Chakravarthy U. Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism, and risk of retinal vein occlusion: a meta-analysis. Ophthalmology. 2009;116:1778-1787.e1 pubmed publisher
    ..total homocysteine (tHcy) concentrations and homozygosity for the thermolabile variant of the methylenetetrahydrofolate reductase (MTHFR) C677T gene as risk factors for retinal vascular occlusive disease...
  37. Pare G, Chasman D, Parker A, Zee R, Malarstig A, Seedorf U, et al. Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet. 2009;2:142-50 pubmed publisher
    ..Although genetic variants of MTHFR and CBS are known to influence homocysteine concentration, common genetic determinants of homocysteine remain ..
  38. Infante Rivard C, Rivard G, Yotov W, Genin E, Guiguet M, Weinberg C, et al. Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. N Engl J Med. 2002;347:19-25 pubmed
    ..We determined the presence or absence in newborns and their parents of the following polymorphisms: methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, factor V Leiden G1691A, and prothrombin G20210A...
  39. de Alvarenga M, Pavarino Bertelli E, Goloni Bertollo E. Comparing techniques for the identification of the MTHFR A1298C polymorphism. J Biomol Tech. 2008;19:103-5 pubmed
    ..enzyme is used by a number of researchers as a methodology for the identification of the genetic polymorphism MTHFR A1298C...
  40. Braun M, Richman S, Thompson L, Daly C, Meade A, Adlard J, et al. Association of molecular markers with toxicity outcomes in a randomized trial of chemotherapy for advanced colorectal cancer: the FOCUS trial. J Clin Oncol. 2009;27:5519-28 pubmed publisher
    ..region (TYMS-ER), thymidylate synthase 1494 (TYMS-1494), dihydropyrimidine dehydrogenase (DPYD), methylenetetrahydrofolate reductase (MTHFR), mutL homolog 1 (MLH1), UDP glucuronyltransferase (UGT1A1), ATP-binding cassette group B ..
  41. Wu X, Wang X, Chan Y, Jia S, Luo Y, Tang W. Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis. Eur J Obstet Gynecol Reprod Biol. 2013;167:154-9 pubmed publisher
    b>MTHFR C677T and A1298C have been associated with the risk of having an infant with Down syndrome (DS), but results were conflicting...
  42. Vollset S, Igland J, Jenab M, Fredriksen A, Meyer K, Eussen S, et al. The association of gastric cancer risk with plasma folate, cobalamin, and methylenetetrahydrofolate reductase polymorphisms in the European Prospective Investigation into Cancer and Nutrition. Cancer Epidemiol Biomarkers Prev. 2007;16:2416-24 pubmed
    Previous studies have shown inconsistent associations of folate intake and polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene with gastric cancer risk...
  43. 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...
  44. Qi Z, Hoffman G, Kurtycz D, Yu J. Prevalence of the C677T substitution of the methylenetetrahydrofolate reductase (MTHFR) gene in Wisconsin. Genet Med. 2003;5:458-9 pubmed
    The objective of this study was to estimate the prevalence of the C677T substitution of the MTHFR gene in the State of Wisconsin...
  45. Lu J, Gao C, Wu J, Sun X, Wang L, Feng J. [Relationship of methylenetetrahydrofolate reductase C677T polymorphism and chemosensitivity to 5-fluorouracil in gastric carcinoma]. Ai Zheng. 2004;23:958-62 pubmed
    Methylenetrahydrofolate reductase (MTHFR) C677T polymorphism modifies enzyme activity and thus effects the level of 5, 10-methylenetetrahydrofolate (5,10-MTHR), which correlates with the tumor response to 5-fluorouracil (5-FU)...
  46. Shen H, Newmann A, Hu Z, Zhang Z, Xu Y, Wang L, et al. Methylenetetrahydrofolate reductase polymorphisms/haplotypes and risk of gastric cancer: a case-control analysis in China. Oncol Rep. 2005;13:355-60 pubmed
    ..b>Methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism and influences DNA methylation and nucleotide synthesis...
  47. Martin Y, Olson J, Ingle J, Vierkant R, Fredericksen Z, Pankratz V, et al. Methylenetetrahydrofolate reductase haplotype tag single-nucleotide polymorphisms and risk of breast cancer. Cancer Epidemiol Biomarkers Prev. 2006;15:2322-4 pubmed
  48. 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)...
  49. Sirachainan N, Sasanakul W, Visudtibhan A, Tapanapruksakul P, Charoenkwan P, Kadegasem P, et al. The effect of polymorphisms of MTHFR C677T, A1298C, MS A2756G and CBS 844ins68bp on plasma total homocysteine level and the risk of ischemic stroke in Thai children. Thromb Res. 2008;122:33-7 pubmed
  50. Zhuo W, Zhang L, Ling J, Zhu Y, Chen Z. MTHFR C677T and A1298C polymorphisms and cervical carcinoma susceptibility: meta-analyses based on 4,421 individuals. Mol Biol Rep. 2012;39:8723-32 pubmed publisher
    b>MTHFR polymorphisms have been implicated as risk factors for several cancers. Studies have conducted on the associations of MTHFR polymorphisms with cervical carcinoma risk and have generated inconclusive results...
  51. Toffoli G, Gafa R, Russo A, Lanza G, Dolcetti R, Sartor F, et al. Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy. Clin Cancer Res. 2003;9:743-8 pubmed
    ..Conversely, DNA hypomethylation has been associated with distal colon cancer (CLC). Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5',10'-methylenetetrahydrofolate to 5'-methyl tetrahydrofolate, ..
  52. 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 ..
  53. Tavakkoly Bazzaz J, Shojapoor M, Nazem H, Amiri P, Fakhrzadeh H, Heshmat R, et al. Methylenetetrahydrofolate reductase gene polymorphism in diabetes and obesity. Mol Biol Rep. 2010;37:105-9 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) polymorphism may play an important role in the pathophysiology of obesity and diabetes accompanied by obesity due to its influence on plasma homocysteine levels...
  54. Siemianowicz K, Gminski J, Garczorz W, Slabiak N, Goss M, Machalski M, et al. Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms in patients with small cell and non-small cell lung cancer. Oncol Rep. 2003;10:1341-4 pubmed
    Two mutations of methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) may lead to a decreased activity of the enzyme. These mutations may change a risk of some cancers...
  55. Cadieux B, Ching T, VandenBerg S, Costello J. Genome-wide hypomethylation in human glioblastomas associated with specific copy number alteration, methylenetetrahydrofolate reductase allele status, and increased proliferation. Cancer Res. 2006;66:8469-76 pubmed
    ..or homozygous for the low-functioning Val allele of the rate-limiting methyl group metabolism gene methylenetetrahydrofolate reductase (MTHFR), or had a deletion encompassing this gene at 1p36...
  56. 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...
  57. Arsene D, Găină G, Bălescu C, Ardeleanu C. C677T and A1298C methylenetetrahydropholate reductase (MTHFR) polymorphisms as factors involved in ischemic stroke. Rom J Morphol Embryol. 2011;52:1203-7 pubmed
    ..the possible association between ischemic stroke and the polymorphism of methylenetetrahydropholate reductase (MTHFR) C677T and A1298C are still conflictual...
  58. Shotelersuk V, Ittiwut C, Siriwan P, Angspatt A. Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J Med Genet. 2003;40:e64 pubmed
  59. O Leary V, Mills J, Parle McDermott A, Pangilinan F, Molloy A, Cox C, et al. Screening for new MTHFR polymorphisms and NTD risk. Am J Med Genet A. 2005;138A:99-106 pubmed
    The enzyme, 5,10-methylenetetrahydrofolate reductase (MTHFR) plays a key role in cellular folate metabolism. The A222V (677C->T) polymorphism is a confirmed neural tube defect (NTD) risk factor within Irish and other populations...
  60. 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...
  61. Tsai C, Hsu C, Tsai M, Tsou Y, Hua C, Chang W, et al. Methylenetetrahydrofolate reductase (MTHFR) genotype, smoking habit, metastasis and oral cancer in Taiwan. Anticancer Res. 2011;31:2395-9 pubmed
    The aim of this study was to evaluate the association and interaction of genotypic polymorphism in methylenetetrahydrofolate reductase (MTHFR) with smoking habits and oral cancer in Taiwan...