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. Safarinejad M, Shafiei N, Safarinejad S. Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase (C677T, A1298C, and G1793A) as risk factors for idiopathic male infertility. Reprod Sci. 2011;18:304-15 pubmed publisher
    The human methylenetetrahydrofolate reductase (MTHFR) gene plays a crucial role in folate metabolism. Data regarding the influence of MTHFR gene polymorphisms on male fertility status are scarce and conflicting...
  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

Publications273 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. Jokic M, Brcic Kostic K, Stefulj J, Catela Ivkovic T, Božo L, Gamulin M, et al. Association of MTHFR, MTR, MTRR, RFC1, and DHFR gene polymorphisms with susceptibility to sporadic colon cancer. DNA Cell Biol. 2011;30:771-6 pubmed publisher
    ..Six common polymorphisms (two in MTHFR and one each in MTR, MTRR, RFC1, and DHFR genes) were genotyped in 300 healthy subjects and 300 colon cancer ..
  14. Lajin B, Alhaj Sakur A, Michati R, Alachkar A. Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susceptibility to schizophrenia in a Syrian study cohort. Asian J Psychiatr. 2012;5:144-9 pubmed publisher
    ..The studied polymorphisms included the MTHFR C677T and A1298C, and MTRR A66G, all of which result into amino acid changes, and were previously shown to yield ..
  15. Topic E, Simundić A, Ttefanović M, Demarin V, Vukovic V, Lovrencic Huzjan A, et al. Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular disease. Clin Chem Lab Med. 2001;39:346-50 pubmed
    Although controversial, data on the genetic polymorphism of apoprotein E (APOE), methylenetetrahydrofolate (MTHFR) and paraoxonase (PON1) genes implicate their role in the development of cerebrovascular disease...
  16. Tan E, Chong S, Lim L, Chan A, Teo Y, Tan C, et al. Genetic analysis of the thermolabile methylenetetrahydrofolate reductase variant in schizophrenia and mood disorders. Psychiatr Genet. 2004;14:227-31 pubmed
    ..We investigated the frequency of the common C667 T variant of the enzyme methylenetetrahydrofolate reductase in controls and patients of Chinese descent...
  17. Lee C, Su Y, Cheng W, Lin M, Wang J, Wu M, et al. Association of the C677T methylenetetrahydrofolate reductase mutation with congenital heart diseases. Acta Obstet Gynecol Scand. 2005;84:1134-40 pubmed
    To investigate whether the cytosine-to-thymine mutation at base 677 of the gene for methylenetetrahydrofolate reductase (MTHFR) is associated with congenital heart diseases (CHD), using high throughput heteroduplex analysis based upon ..
  18. Miao X, Yang S, Tan W, Zhang X, Ye Y, Lin D, et al. [Association between genetic variations in methylenetetrahydrofolate reductase and risk of colorectal cancer in a Chinese population]. Zhonghua Yu Fang Yi Xue Za Zhi. 2005;39:409-11 pubmed
    To investigate the association between genetic variations in methylenetetrahydrofolate reductase (MTHFR) and the risk of colorectal cancer in a Chinese population...
  19. Mu L, Cao W, Zhang Z, Yu S, Jiang Q, You N, et al. Polymorphisms of 5,10-methylenetetralydrofolate reductase (MTHFR), fruit and vegetable intake, and the risk of stomach cancer. Biomarkers. 2007;12:61-75 pubmed
    Stomach cancer is a serious public health problem in China. 5,10-Methylenetetralydrofolate reductase (MTHFR) may be involved in both DNA methylation and DNA synthesis...
  20. Balderrábano Saucedo N, Sánchez Urbina R, Sierra Ramirez J, García Hernández N, Sánchez Boiso A, Klunder Klunder M, et al. Polymorphism 677C → T MTHFR gene in Mexican mothers of children with complex congenital heart disease. Pediatr Cardiol. 2013;34:46-51 pubmed publisher
    ..in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene...
  21. Wang S, Wang J, Yu J, Wei B, Wang K, Liu J, et al. [Association between parental MTHFR gene polymorphism 677C/T and nonsyndromic cleft lip and palate in offspring]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012;29:464-7 pubmed publisher
    To explore the association between parental genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) 677C/T and occurrence of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in offspring in Shandong Province...
  22. Jee S, Beaty T, Suh I, Yoon Y, Appel L. The methylenetetrahydrofolate reductase gene is associated with increased cardiovascular risk in Japan, but not in other populations. Atherosclerosis. 2000;153:161-8 pubmed
    The methylenetetrahydrofolate reductase (MTHFR) gene has been associated with increased risk for cardiovascular disease in some, but not all studies...
  23. Ergul E, Sazci A, Utkan Z, Canturk N. Polymorphisms in the MTHFR gene are associated with breast cancer. Tumour Biol. 2003;24:286-90 pubmed
    The methylenetetrahydrofolate reductase (MTHFR) gene is a polymorphic gene involved in folate metabolism, DNA biosynthesis, methylation and genomic integrity in actively dividing cells...
  24. Parodi M, Di Crecchio L. Hyperhomocysteinemia in central retinal vein occlusion in young adults. Semin Ophthalmol. 2003;18:154-9 pubmed
    ..investigators have tried to assess the role of hyperhomocysteinemia and the 677C-T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene as risk factors in retinal vein occlusion with contrasting results...
  25. Shrubsole M, Shu X, Ruan Z, Cai Q, Cai H, Niu Q, et al. MTHFR genotypes and breast cancer survival after surgery and chemotherapy: a report from the Shanghai Breast Cancer Study. Breast Cancer Res Treat. 2005;91:73-9 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) regulates the intracellular folates pool for DNA synthesis and methylation...
  26. Wang L, Guo R, Fan Z, He X, Gao S, Guo H, et al. Association of methylenetetrahydrofolate reductase and thymidylate synthase promoter polymorphisms with genetic susceptibility to esophageal and cardia cancer in a Chinese high-risk population. Dis Esophagus. 2005;18:177-84 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase (TS) are key enzymes in folate metabolism, which is essential for normal DNA methylation and synthesis...
  27. Papoutsakis C, Yiannakouris N, Manios Y, Papaconstantinou E, Magkos F, Schulpis K, et al. The effect of MTHFR(C677T) genotype on plasma homocysteine concentrations in healthy children is influenced by gender. Eur J Clin Nutr. 2006;60:155-62 pubmed
    To explore the influence of gender, together with folate status, on the relation between the common methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and plasma total homocysteine (tHcy) concentrations in healthy children...
  28. Glanville T, Yates Z, Ovadia L, Walker J, Lucock M, Simpson N. Fetal folate C677T methylenetetrahydrofolate reductase gene polymorphism and low birth weight. J Obstet Gynaecol. 2006;26:11-4 pubmed
    The aim of this study was to determine if fetal C677T methylenetetrahydrofolate reductase (MTHFR) genotype contributes to low birth weight...
  29. Nagy B, Hupuczi P, Papp Z. High frequency of methylenetetrahydrofolate reductase 677TT genotype in Hungarian HELLP syndrome patients determined by quantitative real-time PCR. J Hum Hypertens. 2007;21:154-8 pubmed
    Our aim was to determine the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in hypertensive disorders during pregnancy...
  30. Goddard K, Tromp G, Romero R, Olson J, Lu Q, Xu Z, et al. Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes. Hum Hered. 2007;63:1-16 pubmed
    ..0008) for the offspring genotype. Common candidate genes for PE, including MTHFR and NOS3, were not significantly associated with PE. For the interaction model, SNPs within IGF1 (p = 0...
  31. Nie Y, Gu H, Gong J, Wang J, Gong D, Cong X, et al. Methylenetetrahydrofolate reductase C677T polymorphism and congenital heart disease: a meta-analysis. Clin Chem Lab Med. 2011;49:2101-8 pubmed publisher
    As a key enzyme in folate metabolism, 5,10- methylenetetrahydrofolate reductase (MTHFR) regulates the homeostasis between DNA synthesis and methylation...
  32. Toydemir P, Elhan A, Tukun A, Toydemir R, Gurler A, Tuzuner A, et al. Effects of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothombin gene G20210A mutations on deep venous thrombogenesis in Behçet's disease. J Rheumatol. 2000;27:2849-54 pubmed
    ..Possible roles of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A (Leiden), and prothrombin gene G20210A polymorphisms ..
  33. Volcik K, Blanton S, Northrup H. Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations--and in utero viability. Am J Hum Genet. 2001;69:1150-3 pubmed
  34. Bjerregaard L, Nederby N, Fredholm L, Brandslund I, Munkholm P, Hey H. Hyperhomocysteinaemia, coagulation pathway activation and thrombophilia in patients with inflammatory bowel disease. Scand J Gastroenterol. 2002;37:62-7 pubmed
    The 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T polymorphism encoding the thermolabile variant is, when present as homozygote type (TT variant), a known genetic cause of mild hyperhomocysteinaemia (HHCY)...
  35. Gao X, Yang H, ZhiPing T. Association studies of genetic polymorphism, environmental factors and their interaction in ischemic stroke. Neurosci Lett. 2006;398:172-7 pubmed
    ..enzyme (ACE) gene I/D polymorphism, apolipoprotein E (ApoE) gene polymorphism, methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism, and beta fibrinogen (Fgbeta) gene 148C/T polymorphism were ..
  36. Battistelli S, Vittoria A, Stefanoni M, Bing C, Roviello F. Total plasma homocysteine and methylenetetrahydrofolate reductase C677T polymorphism in patients with colorectal carcinoma. World J Gastroenterol. 2006;12:6128-32 pubmed
    ..behaviour of total plasma homocysteine (tHcy) and its most common genetic determinant defect, the methylenetetrahydrofolate reductase C677T (C677TMTHFR) polymorphism in patients with early stage colorectal carcinoma...
  37. Etienne Grimaldi M, Milano G, Maindrault Goebel F, Chibaudel B, Formento J, Francoual M, et al. Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients. Br J Clin Pharmacol. 2010;69:58-66 pubmed publisher
    ..study is the first to report that clinical response to FOLFOX is significantly related to methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (677C-->T and 1298A-->C), with a response rate of 37, 53, 63 and ..
  38. van Winkel R, Rutten B, Peerbooms O, Peuskens J, Van Os J, De Hert M. MTHFR and risk of metabolic syndrome in patients with schizophrenia. Schizophr Res. 2010;121:193-8 pubmed publisher
    Meta-analyses have implicated polymorphisms in MTHFR, encoding a critical enzyme in folate and homocysteine metabolism, in both schizophrenia and CVD...
  39. Lee S, Kim H, Park K, Lee S, Hong S, Kim H, et al. MTHFR C677T polymorphism as a risk factor for vascular calcification in chronic hemodialysis patients. J Korean Med Sci. 2011;26:461-5 pubmed publisher
    Polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T is one of the suggested risk factors for atherosclerosis...
  40. Zhang Y, Chen G, Ji Y, Huang B, Shen W, Deng L, et al. Quantitative assessment of the effect of MTHFR polymorphisms on the risk of lung carcinoma. Mol Biol Rep. 2012;39:6203-11 pubmed publisher
    Published studies on the relationships between 5,10-methylenetetrahydrofolate reductase (MTHFR) polymorphisms and lung cancer risk have been conflicting...
  41. Kohara K, Fujisawa M, Ando F, Tabara Y, Niino N, Miki T, et al. MTHFR gene polymorphism as a risk factor for silent brain infarcts and white matter lesions in the Japanese general population: The NILS-LSA Study. Stroke. 2003;34:1130-5 pubmed
    ..Genotyping of methylenetetrahydrofolate reductase (MTHFR) C677T gene mutation and brain MRI examination were performed in 1721 subjects free of any ..
  42. Etienne M, Formento J, Chazal M, Francoual M, Magne N, Formento P, et al. Methylenetetrahydrofolate reductase gene polymorphisms and response to fluorouracil-based treatment in advanced colorectal cancer patients. Pharmacogenetics. 2004;14:785-92 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) controls intracellular CH2FH4 concentrations (required for optimal fluoropyrimidine efficacy) by irreversibly converting CH2FH4 into 5-methyltetrahydrofolate...
  43. Kim N, Choi Y, Kang M, Choi D, Cha S, An M, et al. Influence of combined methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) polymorphisms to plasma homocysteine levels in Korean patients with recurrent spontaneous abortion. Thromb Res. 2006;117:653-8 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) mutations known to be associated with hyperhomocysteinemia may be a risk factor for recurrent spontaneous abortion...
  44. Coppede F, Marini G, Bargagna S, Stuppia L, Minichilli F, Fontana I, et al. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am J Med Genet A. 2006;140:1083-91 pubmed
    ..folate and homocysteine levels, alone or in combination with the 677C>T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene...
  45. Moon H, Kim T, Oh B, Min H, Cho H, Bang S, et al. MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: a case-control study in Korea. Leuk Res. 2007;31:1213-7 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is an enzyme involved in folate metabolism and DNA methylation...
  46. Ko K, Kim N, Yim D, Hong S, Park P, Rim K, et al. Polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) and thymidylate synthase enhancer region (TSER) as a risk factor of cholangiocarcinoma in a Korean population. Anticancer Res. 2006;26:4229-33 pubmed
    5,10-Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, plays a major role in the provision of methyl groups for DNA methylation; thymidylate synthase (TS) is a rate-limiting enzyme in the synthesis of dTMP ..
  47. Peyrin Biroulet L, Guéant Rodriguez R, Chen M, Bronowicki J, Bigard M, Gueant J. Association of MTRR 66A>G polymorphism with superoxide dismutase and disease activity in patients with Crohn's disease. Am J Gastroenterol. 2008;103:399-406 pubmed
    The aim of this study was to evaluate the association of nutritional (folate, vitamin B12) and genetic (MTHFR, MTR, MTRR, TCN) determinants of homocysteine metabolism and of superoxide dismutase with Crohn's disease (CD)...
  48. Krull K, Brouwers P, Jain N, Zhang L, Bomgaars L, Dreyer Z, et al. Folate pathway genetic polymorphisms are related to attention disorders in childhood leukemia survivors. J Pediatr. 2008;152:101-5 pubmed
    To test the hypothesis that 5,10-methylenetetrahydroreductase (MTHFR) polymorphisms can partially explain the individual variation in developing attention-deficit/hyperactivity disorder (ADHD) after acute lymphoblastic leukemia (ALL) ..
  49. Gaysina D, Cohen S, Craddock N, Farmer A, Hoda F, Korszun A, et al. No association with the 5,10-methylenetetrahydrofolate reductase gene and major depressive disorder: results of the depression case control (DeCC) study and a meta-analysis. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:699-706 pubmed publisher
    ..The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) has been implicated in MDD in a meta-analysis of association studies and is within a ..
  50. Bjelland I, Tell G, Vollset S, Refsum H, Ueland P. Folate, vitamin B12, homocysteine, and the MTHFR 677C->T polymorphism in anxiety and depression: the Hordaland Homocysteine Study. Arch Gen Psychiatry. 2003;60:618-26 pubmed
    ..depression and other components of 1-carbon metabolism such as vitamin B12, homocysteine, and the methylenetetrahydrofolate reductase 677C-->T polymorphism. The relationship between anxiety and these components is less well known...
  51. Li Z, Sun L, Zhang H, Liao Y, Wang D, Zhao B, et al. Elevated plasma homocysteine was associated with hemorrhagic and ischemic stroke, but methylenetetrahydrofolate reductase gene C677T polymorphism was a risk factor for thrombotic stroke: a Multicenter Case-Control Study in China. Stroke. 2003;34:2085-90 pubmed
    It is still controversial whether elevated plasma homocysteine and the C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene are risk factors for stroke...
  52. Oyama K, Kawakami K, Maeda K, Ishiguro K, Watanabe G. The association between methylenetetrahydrofolate reductase polymorphism and promoter methylation in proximal colon cancer. Anticancer Res. 2004;24:649-54 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) plays a critical role in folate metabolism, which is an important pathway of the methyl donor for DNA methylation...
  53. Brune N, Andrich J, Gencik M, Saft C, Muller T, Valentin S, et al. Methyltetrahydrofolate reductase polymorphism influences onset of Huntington's disease. J Neural Transm Suppl. 2004;:105-10 pubmed
    ..0001) with a significant correlation between both (R= -0.521, p=0.01) was obvious. HD patients with the homozygous MTHFR-1298-CC significantly (p = 0.024) earlier experienced HD symptoms...
  54. Brandalize A, Bandinelli E, Borba J, Felix T, Roisenberg I, Schuler Faccini L. Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. Braz J Med Biol Res. 2007;40:787-91 pubmed
    ..Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy ..
  55. Derwinger K, Wettergren Y, Odin E, Carlsson G, Gustavsson B. A study of the MTHFR gene polymorphism C677T in colorectal cancer. Clin Colorectal Cancer. 2009;8:43-8 pubmed publisher
    The aim of this study was to examine the clinical significance of the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism C677T in colorectal cancer (CRC)...
  56. Lightfoot T, Johnston W, Painter D, Simpson J, Roman E, Skibola C, et al. Genetic variation in the folate metabolic pathway and risk of childhood leukemia. Blood. 2010;115:3923-9 pubmed publisher
    ..We investigated the association between polymorphisms in key folate metabolism enzymes (MTHFR 677 C>T, MTHFR 1298 A>C, SHMT1 1420 C>T, MTR 2756 A>G, TS 1494del6, and TS 28bp repeat) in 939 cases ..
  57. Wu W, Shen O, Qin Y, Lu J, Niu X, Zhou Z, et al. Methylenetetrahydrofolate reductase C677T polymorphism and the risk of male infertility: a meta-analysis. Int J Androl. 2012;35:18-24 pubmed publisher
    Several molecular epidemiological studies have been conducted to examine the association between MTHFR C677T polymorphism and male infertility susceptibility, but the results remain inconsistent...
  58. Han Y, Pan Y, Du Y, Tong N, Wang M, Zhang Z, et al. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population. DNA Cell Biol. 2011;30:1063-8 pubmed publisher
    ..Great efforts have been taken to unravel its genetic background. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme in folate metabolism and two of its functional polymorphisms, MTHFR ..
  59. Nikbakht M, Malekzadeh K, Kumar Jha A, Askari M, Marwaha R, Kaul D, et al. Polymorphisms of MTHFR and MTR genes are not related to susceptibility to childhood ALL in North India. Exp Oncol. 2012;34:43-8 pubmed
    Acute lymphoblastic leukemia (ALL) is the most worldwide common type of childhood cancer. Methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR) participate in folate pathways and ..
  60. Amigou A, Rudant J, Orsi L, Goujon Bellec S, Leverger G, Baruchel A, et al. Folic acid supplementation, MTHFR and MTRR polymorphisms, and the risk of childhood leukemia: the ESCALE study (SFCE). Cancer Causes Control. 2012;23:1265-77 pubmed publisher
    ..before or during pregnancy reduces AL risk, accounting for the SNPs rs1801133 (C677T) and rs1801131 (A1298C) in MTHFR and rs1801394 (A66G) and rs1532268 (C524T) in MTRR, assumed to modify folate metabolism...
  61. 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)...
  62. Lee S, Kang D, Nishio H, Lee M, Kim D, Han W, et al. Methylenetetrahydrofolate reductase polymorphism, diet, and breast cancer in Korean women. Exp Mol Med. 2004;36:116-21 pubmed
    To evaluate the interactive effect of methylenetetrahydrofolate reductase (MTHFR) genotype and dietary factors on the development of breast cancer, a hospital based case-control study was conducted in South Korean study population ..
  63. Le Marchand L, Wilkens L, Kolonel L, Henderson B. The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study. Cancer Epidemiol Biomarkers Prev. 2005;14:1198-203 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme in the metabolism of folate, a nutrient that has been inversely related to colorectal cancer risk...
  64. Park B, Kim Y, Park J, Lee H, Ha E, Min J, et al. [Folate and homocysteine levels during pregnancy affect DNA methylation in human placenta]. J Prev Med Public Health. 2005;38:437-42 pubmed
    ..human placenta and the maternal folate and homocysteine concentrations on the Methylenetetrahydrofolatereductase (MTHFR) genetic polymorphism during pregnancy...
  65. 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...
  66. 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...
  67. Roffman J, Weiss A, Purcell S, Caffalette C, Freudenreich O, Henderson D, et al. Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia. Biol Psychiatry. 2008;63:42-8 pubmed
    ..We examined whether the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C functional polymorphisms contribute to negative symptoms...
  68. 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...
  69. 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) ..
  70. Diakite B, Tazzite A, Hamzi K, Jouhadi H, Nadifi S. Methylenetetrahydrofolate reductase C677T polymorphism and breast cancer risk in Moroccan women. Afr Health Sci. 2012;12:204-9 pubmed publisher
    Methylenetetrahydrofolate (MTHFR) enzyme plays an important role in folate metabolism which is involved in DNA methylation, repair, and synthesis...
  71. Stuppia L, Gatta V, Gaspari A, Antonucci I, Morizio E, Calabrese G, et al. C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet. 2002;10:388-90 pubmed
    The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers...
  72. Kelly P, Rosand J, Kistler J, Shih V, Silveira S, Plomaritoglou A, et al. Homocysteine, MTHFR 677C-->T polymorphism, and risk of ischemic stroke: results of a meta-analysis. Neurology. 2002;59:529-36 pubmed
    ..with hyperhomocyst(e)inemia (hyper-Hcy) and a common polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR 677C-->T), which predisposes to hyper-Hcy in vivo...
  73. 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)...
  74. 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 ..
  75. 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...
  76. 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-..
  77. Agarwal R, Peters S, Shemirani M, von Ahsen N. Improved real-time multiplex polymerase chain reaction detection of methylenetetrahydrofolate reductase (MTHFR) 677C>T and 1298A>C polymorphisms using nearest neighbor model-based probe design. J Mol Diagn. 2007;9:345-50 pubmed
    The disorders of folate metabolism caused by methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms may lead to several disease states including coronary heart disease, venous thrombosis, and several types of cancer...
  78. 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...
  79. Ukinc K, Ersoz H, Karahan C, Erem C, Eminagaoglu S, Hacihasanoglu A, et al. Methyltetrahydrofolate reductase C677T gene mutation and hyperhomocysteinemia as a novel risk factor for diabetic nephropathy. Endocrine. 2009;36:255-61 pubmed publisher
    ..A point mutation (677 C-T) of MTHFR gene results in a significant increase at plasma homocysteine levels...
  80. van Winkel R, Moons T, Peerbooms O, Rutten B, Peuskens J, Claes S, et al. MTHFR genotype and differential evolution of metabolic parameters after initiation of a second generation antipsychotic: an observational study. Int Clin Psychopharmacol. 2010;25:270-6 pubmed publisher
    ..Cross-sectional studies suggested an association between polymorphisms in 5,10-methylenetetraydrofolate reductase (MTHFR) and metabolic syndrome in patients with schizophrenia...
  81. 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 ..
  82. Guillen M, Corella D, Portoles O, Gonzalez J, Mulet F, Saiz C. Prevalence of the methylenetetrahydrofolate reductase 677C > T mutation in the Mediterranean Spanish population. Association with cardiovascular risk factors. Eur J Epidemiol. 2001;17:255-61 pubmed
    b>Methylenetetrahydrofolate reductase (MT-HFR) is a key enzyme involved in folate metabolism...
  83. van Ede A, Laan R, Blom H, Huizinga T, Haagsma C, Giesendorf B, et al. The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. Arthritis Rheum. 2001;44:2525-30 pubmed
    To study the possible relationship between the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and the toxicity and efficacy of treatment with methotrexate (MTX) in patients with rheumatoid arthritis (RA)...
  84. Zhang J, Zotz R, Li Y, Wang R, Kiel S, Schulz W, et al. Methylenetetrahydrofolate reductase C677T polymorphism and predisposition towards esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population. J Cancer Res Clin Oncol. 2004;130:574-80 pubmed
    Folate deficiency is considered to increase the risk of developing esophageal cancer. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme involved in folate metabolism...
  85. Zhang X, Miao X, Tan W, Qu S, Sun T, Zhou Y, et al. [Association between genetic polymorphisms in methylentetrahydrofolate reductase and risk of lung cancer]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2005;27:700-3 pubmed
    To investigate the association between methylentetrahydrofolate reductase (MTHFR) polymorphisms and risk of lung cancer...
  86. 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 ..