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. Xu J, Xu X, Xue L, Liu X, Gu H, Cao H, et al. MTHFR c.1793G>A polymorphism is associated with congenital cardiac disease in a Chinese population. Cardiol Young. 2010;20:318-26 pubmed publisher
    To investigate whether genetic variants in methylenetetrahydrofolate reductase (MTHFR) and methylenetetrahydrofolate dehydrogenase (MTHFD) genes are associated with risk of congenital cardiac disease...
  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. Agodi A, Barchitta M, Cipresso R, Marzagalli R, La Rosa N, Caruso M, et al. Distribution of p53, GST, and MTHFR polymorphisms and risk of cervical intraepithelial lesions in sicily. Int J Gynecol Cancer. 2010;20:141-6 pubmed publisher
    ..72, glutathione S-transferase class mu (GSTM1), glutathione S-transferase class theta (GSTT1), and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms on the risk for infection and/or of cervical intraepithelial lesions in ..
  6. 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 ..
  7. 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 ..
  8. 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...
  9. 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 ..

More Information

Publications365 found, 100 shown here

  1. Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, et al. Blood pressure and hypertension are associated with 7 loci in the Japanese population. Circulation. 2010;121:2302-9 pubmed publisher
    ..Significant associations were replicated for 7 loci-CASZ1, MTHFR, ITGA9, FGF5, CYP17A1-CNNM2, ATP2B1, and CSK-ULK3-with any or all of these 3 traits: systolic blood pressure (P=1...
  2. 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...
  3. Tong N, Sheng X, Wang M, Fang Y, Shi D, Zhang Z, et al. Methylenetetrahydrofolate reductase gene polymorphisms and acute lymphoblastic leukemia risk: a meta-analysis based on 28 case-control studies. Leuk Lymphoma. 2011;52:1949-60 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) is involved in DNA methylation and nucleotide synthesis...
  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. 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)...
  6. Sood S, Das R, Trehan A, Ahluwalia J, Sachdeva M, Varma N, et al. Methylenetetrahydrofolate reductase gene polymorphisms: association with risk for pediatric acute lymphoblastic leukemia in north Indians. Leuk Lymphoma. 2010;51:928-32 pubmed publisher
    Genetic polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene have been associated with the development of acute leukemias and various malignancies...
  7. 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)...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. 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...
  17. Haviv Y, Shpichinetsky V, Goldschmidt N, Atta I, Ben Yehuda A, Friedman G. The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients. Nephron. 2002;92:120-6 pubmed
    ..While both renal failure and mutations of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene may result in hyperhomocysteinemia and CVD, the distinct roles of the thermolabile ..
  18. Alsayouf H, Zamel K, Heyer G, Khuhro A, Kahwash S, De Los Reyes E. Role of methylenetetrahydrofolate reductase gene (MTHFR) 677C>T polymorphism in pediatric cerebrovascular disorders. J Child Neurol. 2011;26:318-21 pubmed publisher
    Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) 677C>T mutation (MTHFR TT) has been linked to an increased risk for stroke, coronary artery disease, and migraine headaches...
  19. Saetre P, Vares M, Werge T, Andreassen O, Arinami T, Ishiguro H, et al. Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and age of onset in schizophrenia: a combined analysis of independent samples. Am J Med Genet B Neuropsychiatr Genet. 2011;156:215-24 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) is involved in the one-carbon cycle, which is of importance for nucleotide synthesis and methylation of DNA, membranes, proteins and lipids...
  20. Moe K, Woon F, De Silva D, Wong P, Koh T, Kingwell B, et al. Association of acute ischemic stroke with the MTHFR C677T polymorphism but not with NOS3 gene polymorphisms in a Singapore population. Eur J Neurol. 2008;15:1309-14 pubmed publisher
    ..oxide synthase 3 (NOS3) gene (T-786C, variable number tandem repeats 4A/B/C, and G894T) and in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) with acute ischemic stroke have been reported...
  21. Grieu F, Powell B, Beilby J, Iacopetta B. Methylenetetrahydrofolate reductase and thymidylate synthase polymorphisms are not associated with breast cancer risk or phenotype. Anticancer Res. 2004;24:3215-9 pubmed
    ..Functional genetic variants in the methylene tetrahydrofolate reductase (MTHFR) and thymidylate synthase (TS) genes may be risk factors for breast cancer because of their central roles in ..
  22. O Leary V, Mills J, Pangilinan F, Kirke P, Cox C, Conley M, et al. Analysis of methionine synthase reductase polymorphisms for neural tube defects risk association. Mol Genet Metab. 2005;85:220-7 pubmed
    ..were observed between these polymorphisms and the D919G variant of MTR or the A222V variant of 5,10-methylenetetrahydrofolate reductase (MTHFR)...
  23. Kaur L, Puri M, Kaushik S, Sachdeva M, Trivedi S, Saraswathy K. Genetic thromobophilia in pregnancy: a case-control study among North Indian women. J Thromb Thrombolysis. 2013;35:250-6 pubmed publisher
    In the present study, an attempt is made to understand the role of genetic thrombophilias i.e. MTHFR C677T and FVL in the causation of various pregnancy complications like pregnancy induced hypertension (PIH), recurrent abortions, intra-..
  24. Yalinkaya A, Erdemoglu M, Akdeniz N, Kale A, Kale E. The relationship between thrombophilic mutations and preeclampsia: a prospective case-control study. Ann Saudi Med. 2006;26:105-9 pubmed
    ..All women were tested two months after delivery for mutations of factor V Leiden, methylenetetrahydrofolate reductase (MTHFR), and prothrombin gene mutation as well as for deficiencies of protein C, protein S, and ..
  25. Tüttelmann F, Rajpert De Meyts E, Nieschlag E, Simoni M. Gene polymorphisms and male infertility--a meta-analysis and literature review. Reprod Biomed Online. 2007;15:643-58 pubmed
    ..81, 1.46-2.24 CI, P<0.00001) and MTHFR 677C-->T (OR 1.39, 1.15-2.69 95% CI, P=0.0006) but not for POLG, DAZL, USP26 or FSHR...
  26. Kim J, Park H, Choi Y, Chong S, Oh D, Kim N. Polymorphisms in genes involved in folate metabolism and plasma DNA methylation in colorectal cancer patients. Oncol Rep. 2011;25:167-72 pubmed
    ..In the present study, we sought to determine the following: i) genotype frequencies of MTHFR and MTR involved in folate metabolism in cases and cancer-free controls; and ii) the methylation status of three ..
  27. Muetze S, Leeners B, Ortlepp J, Kuse S, Tag C, Weiskirchen R, et al. Maternal factor V Leiden mutation is associated with HELLP syndrome in Caucasian women. Acta Obstet Gynecol Scand. 2008;87:635-42 pubmed publisher
    ..to assess the prevalence of the factor V Leiden, the prothrombin 20210G >A mutation and the methylenetetrahydrofolate reductase (MTHFR) 677C >T polymorphism in women with HELLP syndrome and in their fetuses from the same ..
  28. Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, et al. Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature. PLoS ONE. 2013;8:e59570 pubmed publisher
    ..the effects of 5 genetic variants from 47 study populations, for a total of 85 case-control comparisons MTHFR C677T (42 studies; 4374 cases, 7232 controls), MTHFR A1298C (22 studies; 2602 cases, 4070 controls), MTR A2756G (9 ..
  29. Matsuo K, Suzuki R, Hamajima N, Ogura M, Kagami Y, Taji H, et al. Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma. Blood. 2001;97:3205-9 pubmed
    ..In the present study, 2 polymorphisms were evaluated for a folate metabolic enzyme, methylenetetrahydrofolate reductase (MTHFR), and one was evaluated for methionine synthase (MS)...
  30. Adinolfi L, Ingrosso D, Cesaro G, Cimmino A, D Antò M, Capasso R, et al. Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. Hepatology. 2005;41:995-1003 pubmed
    ..Hyperhomocysteinemia causes steatosis, and the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism induces hyperhomocysteinemia...
  31. Martinez C, Northrup H, Lin J, Morrison A, Fletcher J, Tyerman G, et al. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol. 2009;201:394.e1-11 pubmed publisher
    ..rs1643649 in dihydrofolate reductase, rs2853533 in thymidylate synthetase, and rs3737965 in methylenetetrahydrofolate reductase was found (P = .015, .041, .021, and .007 respectively)...
  32. Batschauer A, Cruz N, Oliveira V, Coelho F, Santos I, Alves M, et al. HFE, MTHFR, and FGFR4 genes polymorphisms and breast cancer in Brazilian women. Mol Cell Biochem. 2011;357:247-53 pubmed publisher
    ..The FGFR4, MTHFR, and HFE genes have been associated with neoplastic diseases development...
  33. Kobashi G. Genetic and environmental factors associated with the development of hypertension in pregnancy. J Epidemiol. 2006;16:1-8 pubmed
    ..with HP, although no significant associations were found between the common genetic variants and HP in ACE, FV, MTHFR, B3AR, TNF-A, PAI-1, GSTP1, mEH, and LPL...
  34. Cui L, Shin M, Kweon S, Kim H, Song H, Piao J, et al. Methylenetetrahydrofolate reductase C677T polymorphism in patients with gastric and colorectal cancer in a Korean population. BMC Cancer. 2010;10:236 pubmed publisher
    This study was designed to investigate an association between the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and the risk of gastric and colorectal cancer in the Korean population...
  35. Ergul E, Sazci A, Kara I. Methylenetetrahydrofolate reductase gene polymorphisms in Turkish children with attention-deficit/hyperactivity disorder. Genet Test Mol Biomarkers. 2012;16:67-9 pubmed publisher
    ..The aim of the present study was to evaluate a possible association between 5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and ADHD...
  36. Yu L, Chen J. Association of MTHFR Ala222Val (rs1801133) polymorphism and breast cancer susceptibility: An update meta-analysis based on 51 research studies. Diagn Pathol. 2012;7:171 pubmed publisher
    The association between MTHFR Ala222Val polymorphism and breast cancer (BC) risk are inconclusive. To derive a more precise estimation of the relationship, a systematic review and meta-analysis was performed...
  37. Almawi W, Tamim H, Kreidy R, Timson G, Rahal E, Nabulsi M, et al. A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis. J Thromb Thrombolysis. 2005;19:189-96 pubmed
    ..single nucleotide polymorphisms (SNPs) factor V G1691A (FV-Leiden), prothrombin (PRT) G20210A, and methylenetetrahydrofolate reductase (MTHFR), C677T are inherited risk factors of venous thromboembolism (VTE), the aim of this study ..
  38. Yu M, Yuan J, Lu S. Alcohol, cofactors and the genetics of hepatocellular carcinoma. J Gastroenterol Hepatol. 2008;23 Suppl 1:S92-7 pubmed publisher
    ..both the Los Angeles and Guangxi studies, low-activity genotypes (reduced enzymatic activities) of methylenetetrahydrofolate reductase (MTHFR) and high-activity genotypes (enhanced enzymatic activities) of thymidylate synthase (TYMS), ..
  39. Akar N, Akar E, Ozel D, Deda G, Sipahi T. Common mutations at the homocysteine metabolism pathway and pediatric stroke. Thromb Res. 2001;102:115-20 pubmed
    ..between the pediatric stroke patients and controls for the distribution of methylene tetrahydrofolate reductase (MTHFR) 677 C-T, MTHFR 1298 A-C, methylene tetrahydrofolate dehydrogenase (MTHFD) 1958 G-A and methionine synthase ..
  40. Jarvenpaa J, Pakkila M, Savolainen E, Perheentupa A, Jarvela I, Ryynanen M. Evaluation of factor V Leiden, prothrombin and methylenetetrahydrofolate reductase gene mutations in patients with severe pregnancy complications in northern Finland. Gynecol Obstet Invest. 2006;62:28-32 pubmed
    ..Most important inherited thrombophilias are factor V Leiden mutation, prothrombin mutation, and methylenetetrahydrofolate reductase mutation...
  41. Dusse L, Carvalho M, Bragança W, Paiva S, Godoi L, Guimarães D, et al. Inherited thrombophilias and pre-eclampsia in Brazilian women. Eur J Obstet Gynecol Reprod Biol. 2007;134:20-3 pubmed
    ..Differences in the mutation frequencies detected in the two groups were not statistically significant. No correlation was observed between pre-eclampsia and presence of G1691A, G20210A and C677T mutations in Brazilian women. ..
  42. Mukherjee M, Joshi S, Bagadi S, Dalvi M, Rao A, Shetty K. A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians. Clin Genet. 2002;61:155-9 pubmed
    The prevalence of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Asian Indians from India was determined and the association of the mutant allele with coronary artery disease (CAD) was evaluated in a case-..
  43. Parle McDermott A, Mills J, Kirke P, O Leary V, Swanson D, Pangilinan F, et al. Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects. J Hum Genet. 2003;48:190-3 pubmed
    The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs)...
  44. Boyapati S, Bostick R, McGlynn K, Fina M, Roufail W, Geisinger K, et al. Folate intake, MTHFR C677T polymorphism, alcohol consumption, and risk for sporadic colorectal adenoma (United States). Cancer Causes Control. 2004;15:493-501 pubmed
    ..risk for incident sporadic colorectal adenoma, and whether the association differs according to methylenetetrahydrofolate reductase (MTHFR) genotypes or is modified by intakes of alcohol or other micronutrients in the folate ..
  45. Celik A, Tekis D, Saglam F, Tunali S, Kabakci N, Ozaksoy D, et al. Association of corticosteroids and factor V, prothrombin, and MTHFR gene mutations with avascular osteonecrosis in renal allograft recipients. Transplant Proc. 2006;38:512-6 pubmed
    ..We investigated the associations of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations as well as cumulative corticosteroid doses with AVN in renal allograft recipients...
  46. Hong X, Hsu Y, Terwedow H, Tang G, Liu X, Jiang S, et al. Association of the methylenetetrahydrofolate reductase C677T polymorphism and fracture risk in Chinese postmenopausal women. Bone. 2007;40:737-42 pubmed
    ..Previous studies have shown that homocysteine level and the C677T polymorphism in the gene encoding methylenetetrahydrofolate reductase (MTHFR) may be involved in the development of osteoporosis and its related fracture in European ..
  47. Maitland van der Zee A, Lynch A, Boerwinkle E, Arnett D, Davis B, Leiendecker Foster C, et al. Interactions between the single nucleotide polymorphisms in the homocysteine pathway (MTHFR 677C>T, MTHFR 1298 A>C, and CBSins) and the efficacy of HMG-CoA reductase inhibitors in preventing cardiovascular disease in high-risk patients of hyper. Pharmacogenet Genomics. 2008;18:651-6 pubmed publisher
    ..The efficacy of pravastatin in reducing risk of all-cause mortality and CHD was compared among genotype strata (MTHFR 677 CC, CT, and TT, MTHFR 1298 AA, AC, and CC, CBSins DD and I) by examining an interaction term in a proportional ..
  48. Kim H, Kim Y, Lee I, Yang D, Lee J, Shin M, et al. Association between polymorphisms of folate-metabolizing enzymes and hematological malignancies. Leuk Res. 2009;33:82-7 pubmed publisher
    ..The MTHFR 677TT genotype was associated with an increased risk for ALL (odds ratios (OR)=1...
  49. Zalavras C, Malizos K, Dokou E, Vartholomatos G. The 677C-->T mutation of the methylene-tetrahydrofolate reductase gene in the pathogenesis of osteonecrosis of the femoral head. Haematologica. 2002;87:111-2 pubmed
  50. Sharp L, Miedzybrodzka Z, Cardy A, Inglis J, Madrigal L, Barker S, et al. The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR), maternal use of folic acid supplements, and risk of isolated clubfoot: A case-parent-triad analysis. Am J Epidemiol. 2006;164:852-61 pubmed
    ..in several congenital malformations, and folate metabolism may be affected by polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR)...
  51. Timuragaoglu A, Dizlek S, Uysalgil N, Tosun O, Yamac K. Methylenetetrahydrofolate reductase C677T polymorphism in adult patients with lymphoproliferative disorders and its effect on chemotherapy. Ann Hematol. 2006;85:863-8 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is one of the most critical enzyme in folic acid metabolism, and it converts 5,10-MTHF to 5-MTHF. 5,10-MTHF is required for conversion of uridilate to thymidylate...
  52. Peck G, Smeeth L, Whittaker J, Casas J, Hingorani A, Sharma P. The genetics of primary haemorrhagic stroke, subarachnoid haemorrhage and ruptured intracranial aneurysms in adults. PLoS ONE. 2008;3:e3691 pubmed publisher
    ..Importantly, for several alleles previously found to be associated with protection from ischaemic stroke, there was a trend towards an increased risk of haemorrhagic stroke. ..
  53. Kumar J, Garg G, Kumar A, Sundaramoorthy E, Sanapala K, Ghosh S, et al. Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia. Circ Cardiovasc Genet. 2009;2:599-606 pubmed publisher
    ..care center in New Delhi, India, and it was found that choline dehydrogenase (CHDH A119C) and methylenetetrahydrofolate reductase (MTHFR C677T) were significantly associated with plasma total homocysteine levels (P=0.009 and P=0...
  54. Jakubowska A, Gronwald J, Menkiszak J, Gorski B, Huzarski T, Byrski T, et al. Methylenetetrahydrofolate reductase polymorphisms modify BRCA1-associated breast and ovarian cancer risks. Breast Cancer Res Treat. 2007;104:299-308 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR), a key regulatory enzyme in the metabolism of folate, is suspected to play a role in the etiology of cancer, via its effects on DNA methylation and nucleotide synthesis...
  55. Schwab M, Zanger U, Marx C, Schaeffeler E, Klein K, Dippon J, et al. Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol. 2008;26:2131-8 pubmed publisher
    ..dihydropyrimidine dehydrogenase (DPYD ), thymidylate synthase (TYMS ), and methylene tetrahydrofolate reductase (MTHFR ) and of nongenetic factors for severe leukopenia, diarrhea, and mucositis related to fluorouracil (FU) treatment...
  56. Shi C, Kang X, Wang Y, Zhou Y. The coagulation factor V Leiden, MTHFRC677T variant and eNOS 4ab polymorphism in young Chinese population with ischemic stroke. Clin Chim Acta. 2008;396:7-9 pubmed publisher
    ..young adult ischemic stroke (age at first event, <45 y) the prevalence of factor V Leiden, 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T and endothelial nitric oxide synthase (eNOS) 4ab gene variants...
  57. Guerreiro C, Carmona B, Goncalves S, Carolino E, Fidalgo P, Brito M, et al. Risk of colorectal cancer associated with the C677T polymorphism in 5,10-methylenetetrahydrofolate reductase in Portuguese patients depends on the intake of methyl-donor nutrients. Am J Clin Nutr. 2008;88:1413-8 pubmed
    ..We evaluated the association of 3 genetic polymorphisms [C677T MTHFR (methylene tetrahydrofolate reductase), A2756G MTR (methionine synthase), and C1420T SHMT (serine ..