Mthfr

Summary

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

Top Publications

  1. Zetterberg M, Tasa G, Palmér M, Juronen E, Toover E, Blennow K, et al. Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma. Ophthalmic Genet. 2007;28:47-50 pubmed
    ..of the present study was to determine if hyperhomocysteinemia-associated polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR) are overrepresented in primary open-angle glaucoma...
  2. Capaccio P, Ottaviani F, Cuccarini V, Ambrosetti U, Fagnani E, Bottero A, et al. Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms. Genet Med. 2005;7:206-8 pubmed
    ..We aimed to investigate the relationship between SHL and MTHFR 677 and 1298 gene polymorphisms.
  3. Uchida Y, Sugiura S, Ando F, Nakashima T, Shimokata H. Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study. BMC Med Genet. 2011;12:35 pubmed publisher
    ..The aim of this study is to investigate the effects of the methionine synthase (MTR) A2756G and methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms on the risk of hearing impairment in middle-aged and elderly ..
  4. Stover P. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. J Nutrigenet Nutrigenomics. 2011;4:293-305 pubmed publisher
    ..This review focuses on the relationships among folate-mediated 1-carbon metabolism, chromatin methylation and human disease, and the role of gene-nutrient interactions in modifying epigenetic processes. ..
  5. Zgheib N, Akra Ismail M, Aridi C, Mahfouz R, Abboud M, Solh H, et al. Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia. Pharmacogenet Genomics. 2014;24:387-96 pubmed publisher
    ..MTX) metabolism including ABCB1 (or MDR1), ABCC2, SLC19A1 (or RFC1), and SLCO1B1; and the MTX effect mainly MTHFR and TYMS, and to assess whether these polymorphisms are predictors of treatment toxicity and/or MTX clearance...
  6. Patino Garcia A, Zalacain M, Marrodán L, San Julian M, Sierrasesumaga L. Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. J Pediatr. 2009;154:688-93 pubmed publisher
    ..were also analyzed in peripheral blood from 96 children with osteosarcoma and 110 control subjects: C677T, A1298C (MTHFR), G80A (RFC1), A2756G (MTR), C1420T (SHMT), the 28bp-repeat polymorphism, and 1494del6 of the TYMS gene...
  7. Fusconi M, Chistolini A, Angelosanto N, Pignoloni P, Tombolini M, De Virgilio A, et al. Role of genetic and acquired prothrombotic risk factors in genesis of sudden sensorineural hearing loss. Audiol Neurootol. 2011;16:185-90 pubmed publisher
    The methylenetetrahydrofolate reductase C677T mutation, factor V G1691A (factor V Leiden) mutation, prothrombin G20210A mutation and 8 other laboratory values associated with increased thrombotic risk were analyzed in 40 patients with ..
  8. 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 ..
  9. Felekis T, Kolaitis N, Kitsos G, Vartholomatos G, Bourantas K, Asproudis I. Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients. Graefes Arch Clin Exp Ophthalmol. 2010;248:877-84 pubmed publisher
    ..ATIII, lupus anticoagulant, activated protein C resistance, factor V Leiden, factor V H1299R, factor II G20210A, MTHFR C677T, MTHFR A1298C, GPIIIa A1/A2, and ACE I/D polymorphisms were analysed...
  10. Movva S, Alluri R, Venkatasubramanian S, Vedicherla B, Vattam K, Ahuja Y, et al. Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications. Genet Test Mol Biomarkers. 2011;15:257-61 pubmed publisher
    ..of the world have given controversial results regarding the association of methylene tetrahydrofolate reductase (MTHFR) gene variation with T2DM and diabetic nephropathy (DN)...

Detail Information

Publications62

  1. Zetterberg M, Tasa G, Palmér M, Juronen E, Toover E, Blennow K, et al. Methylenetetrahydrofolate reductase genetic polymorphisms in patients with primary open-angle glaucoma. Ophthalmic Genet. 2007;28:47-50 pubmed
    ..of the present study was to determine if hyperhomocysteinemia-associated polymorphisms of the methylenetetrahydrofolate reductase gene (MTHFR) are overrepresented in primary open-angle glaucoma...
  2. Capaccio P, Ottaviani F, Cuccarini V, Ambrosetti U, Fagnani E, Bottero A, et al. Sudden hearing loss and MTHFR 677C>T/1298A>C gene polymorphisms. Genet Med. 2005;7:206-8 pubmed
    ..We aimed to investigate the relationship between SHL and MTHFR 677 and 1298 gene polymorphisms.
  3. Uchida Y, Sugiura S, Ando F, Nakashima T, Shimokata H. Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study. BMC Med Genet. 2011;12:35 pubmed publisher
    ..The aim of this study is to investigate the effects of the methionine synthase (MTR) A2756G and methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphisms on the risk of hearing impairment in middle-aged and elderly ..
  4. Stover P. Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies. J Nutrigenet Nutrigenomics. 2011;4:293-305 pubmed publisher
    ..This review focuses on the relationships among folate-mediated 1-carbon metabolism, chromatin methylation and human disease, and the role of gene-nutrient interactions in modifying epigenetic processes. ..
  5. Zgheib N, Akra Ismail M, Aridi C, Mahfouz R, Abboud M, Solh H, et al. Genetic polymorphisms in candidate genes predict increased toxicity with methotrexate therapy in Lebanese children with acute lymphoblastic leukemia. Pharmacogenet Genomics. 2014;24:387-96 pubmed publisher
    ..MTX) metabolism including ABCB1 (or MDR1), ABCC2, SLC19A1 (or RFC1), and SLCO1B1; and the MTX effect mainly MTHFR and TYMS, and to assess whether these polymorphisms are predictors of treatment toxicity and/or MTX clearance...
  6. Patino Garcia A, Zalacain M, Marrodán L, San Julian M, Sierrasesumaga L. Methotrexate in pediatric osteosarcoma: response and toxicity in relation to genetic polymorphisms and dihydrofolate reductase and reduced folate carrier 1 expression. J Pediatr. 2009;154:688-93 pubmed publisher
    ..were also analyzed in peripheral blood from 96 children with osteosarcoma and 110 control subjects: C677T, A1298C (MTHFR), G80A (RFC1), A2756G (MTR), C1420T (SHMT), the 28bp-repeat polymorphism, and 1494del6 of the TYMS gene...
  7. Fusconi M, Chistolini A, Angelosanto N, Pignoloni P, Tombolini M, De Virgilio A, et al. Role of genetic and acquired prothrombotic risk factors in genesis of sudden sensorineural hearing loss. Audiol Neurootol. 2011;16:185-90 pubmed publisher
    The methylenetetrahydrofolate reductase C677T mutation, factor V G1691A (factor V Leiden) mutation, prothrombin G20210A mutation and 8 other laboratory values associated with increased thrombotic risk were analyzed in 40 patients with ..
  8. 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 ..
  9. Felekis T, Kolaitis N, Kitsos G, Vartholomatos G, Bourantas K, Asproudis I. Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients. Graefes Arch Clin Exp Ophthalmol. 2010;248:877-84 pubmed publisher
    ..ATIII, lupus anticoagulant, activated protein C resistance, factor V Leiden, factor V H1299R, factor II G20210A, MTHFR C677T, MTHFR A1298C, GPIIIa A1/A2, and ACE I/D polymorphisms were analysed...
  10. Movva S, Alluri R, Venkatasubramanian S, Vedicherla B, Vattam K, Ahuja Y, et al. Association of methylene tetrahydrofolate reductase C677T genotype with type 2 diabetes mellitus patients with and without renal complications. Genet Test Mol Biomarkers. 2011;15:257-61 pubmed publisher
    ..of the world have given controversial results regarding the association of methylene tetrahydrofolate reductase (MTHFR) gene variation with T2DM and diabetic nephropathy (DN)...
  11. Alroy S, Preis M, Barzilai M, Cassel A, Lavie L, Halon D, et al. Endothelial cell dysfunction in women with cardiac syndrome X and MTHFR C677T mutation. Isr Med Assoc J. 2007;9:321-5 pubmed
    ..Mutations in the MTHFR gene are associated with elevated levels of homocysteine...
  12. Loewenstein A, Goldstein M, Winder A, Lazar M, Eldor A. Retinal vein occlusion associated with methylenetetrahydrofolate reductase mutation. Ophthalmology. 1999;106:1817-20 pubmed
    To report on the occurrence of methylenetetrahydrofolate reductase (MTHFR) deficiency in patients with retinal vein occlusion (RVO)...
  13. Moore L, Malats N, Rothman N, Real F, Kogevinas M, Karami S, et al. Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer. Int J Cancer. 2007;120:2452-8 pubmed
    ..associations between bladder cancer risk and 33 single nucleotide polymorphisms (SNPs) in 8 genes (CBS, CTH, MTHFR, MTR, MTRR, SHMT1, SLC19A1 and TYMS) and interactions with dietary variables involved in this pathway...
  14. Wang L, Lin D, Lu X, Miao X, Li H. [Study on the relations between genetic polymorphisms in methylenetetrahydrofolate reductase, methionine synthase and the risk of pancreatic cancer]. Zhonghua Liu Xing Bing Xue Za Zhi. 2006;27:50-4 pubmed
    To determine whether genetic polymorphisms in methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MS A2756G) were associated with the risks of pancreatic cancer...
  15. Kaiser R, Li Y, Chang M, Catanese J, Begovich A, Brown E, et al. Genetic risk factors for thrombosis in systemic lupus erythematosus. J Rheumatol. 2012;39:1603-10 pubmed publisher
    ..85, p = 0.02) and methylenetetrahydrofolate reductase (MTHFR) rs1801133 (OR 0.75, p = 0.04) in whites, and fibrinogen gamma (FGG) rs2066865 (OR 1...
  16. Hishida A, Okada R, Guang Y, Naito M, Wakai K, Hosono S, et al. MTHFR, MTR and MTRR polymorphisms and risk of chronic kidney disease in Japanese: cross-sectional data from the J-MICC Study. Int Urol Nephrol. 2013;45:1613-20 pubmed publisher
    ..To clarify the associations of MTHFR, MTR, and MTRR polymorphisms with the risk of CKD in Japanese, we examined this association among Japanese ..
  17. Storti S, Vittorini S, Iascone M, Sacchelli M, Collavoli A, Ripoli A, et al. Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin Chem Lab Med. 2003;41:276-80 pubmed
    Reports related some polymorphisms of the 5,10-methylenetetrahydrofolate reductase (MTHFR) to folate-dependent neural tube defects...
  18. 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...
  19. 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...
  20. Schwahn B, Laryea M, Chen Z, Melnyk S, Pogribny I, Garrow T, et al. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. Biochem J. 2004;382:831-40 pubmed
    MTHFR (methylenetetrahydrofolate reductase) catalyses the synthesis of 5-methyltetrahydrofolate, the folate derivative utilized in homocysteine remethylation to methionine...
  21. Chiusolo P, Giammarco S, Bellesi S, Metafuni E, Piccirillo N, De Ritis D, et al. The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue. Cancer Chemother Pharmacol. 2012;69:691-6 pubmed publisher
    ..This study aims to evaluate the role of MTHFR C677T and A1298C polymorphisms and G80A reduced folate carrier gene (RFC1) in a cohort of adult patients with ..
  22. Zsom M, Fulop T, Zsom L, Baráth A, Maróti Z, Endreffy E. Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients. Hemodial Int. 2011;15:501-8 pubmed publisher
    ..function: endothelial constitutive nitric oxide synthase (ecNOS) T-786C, endothelin-1 G5727T, methylenetetrahydrofolate reductase (MTHFR) C677T, paraoxonase-1 Q192R and M55L, angiotensinogen M235T, angiotensin-converting enzyme (..
  23. Ou C, Stevenson R, Brown V, Schwartz C, Allen W, Khoury M, et al. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects. Am J Med Genet. 1996;63:610-4 pubmed
    Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid...
  24. Huang L, Zhang J, Hayakawa T, Tsuge H. Assays of methylenetetrahydrofolate reductase and methionine synthase activities by monitoring 5-methyltetrahydrofolate and tetrahydrofolate using high-performance liquid chromatography with fluorescence detection. Anal Biochem. 2001;299:253-9 pubmed
    We developed a method for assays of methylenetetrahydrofolate reductase and methionine synthase activities by monitoring their products of 5-methyltetrahydrofolate (5-CH(3)-H(4)folate) and tetrahydrofolate (H(4)folate) directly, using ..
  25. Peeters A, van Landeghem B, Graafsma S, Kranendonk S, Hermus A, Blom H, et al. Low vitamin B6, and not plasma homocysteine concentration, as risk factor for abdominal aortic aneurysm: a retrospective case-control study. J Vasc Surg. 2007;45:701-5 pubmed
    ..vitamin B12, folate, and creatinine were determined in the fasting state, and blood was taken for methylenetetrahydrofolate reductase (MTHFR) mutation analysis...
  26. Ozkul Y, Evereklioglu C, Borlu M, Taheri S, Calis M, Dundar M, et al. 5,10-Methylenetetrahydrofolate reductase C677T gene polymorphism in Behcet's patients with or without ocular involvement. Br J Ophthalmol. 2005;89:1634-7 pubmed
    ..Indeed, a mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T) gene influences Hcy metabolism and, therefore, MTHFR C677T polymorphism provokes ..
  27. 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...
  28. Sibani S, Christensen B, O Ferrall E, Saadi I, Hiou Tim F, Rosenblatt D, et al. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15:280-7 pubmed
    Severe deficiency of methylenetetrahydrofolate reductase (MTHFR) is the most common inborn error of folate metabolism...
  29. Inanir A, Yigit S, Tekcan A, Tural S, Kismali G. IL-4 and MTHFR gene polymorphism in rheumatoid arthritis and their effects. Immunol Lett. 2013;152:104-8 pubmed publisher
    ..Polymorphic variations of the cytokine genes and MTHFR gene have received attention as potential markers of susceptibility, severity, and/or protection in RA...
  30. Tanaka K, Nakayama T, Yuzawa M, Wang Z, Kawamura A, Mori R, et al. Analysis of candidate genes for age-related macular degeneration subtypes in the Japanese population. Mol Vis. 2011;17:2751-8 pubmed
    ..in age-related maculopathy susceptibility 2 (ARMS2), rs2301995 in elastin (ELN), and rs1801133 in methylenetetrahydrofolate reductase (MTHFR). Case-control studies were performed using these AMD subtypes...
  31. Kiseljakovic E, Resic H, Kapur L, Hasić S, Jadrić R. Methylenetetrahydrofolate Reductase gene polymorphism in patients receiving hemodialysis. Bosn J Basic Med Sci. 2010;10 Suppl 1:S91-5 pubmed
    b>Methylenetetrahydrofolate Reductase (MTHFR) is key enzyme in metabolism of homocysteine. Homozygotes for mutation (TT genotype) have hyperhomocysteinemia, risk factor for atherosclerosis development...
  32. Nitsche F, Alliende M, Santos J, Perez F, Santa Maria L, Hertrampf E, et al. [Frequency of C677T polymorphism of 5, 10-methylenetetrahydrofolate reductase (MTHFR) in Chilean mothers of spina bifida cases and controls ]. Rev Med Chil. 2003;131:1399-404 pubmed
    ..frequency of a genetic mutation related with thermolability of the enzyme 5,10-metylentetrahydrofolate reductase (MTHFR)...
  33. Matakidou A, el Galta R, Rudd M, Webb E, Bridle H, Eisen T, et al. Prognostic significance of folate metabolism polymorphisms for lung cancer. Br J Cancer. 2007;97:247-52 pubmed
    ..influence lung cancer survival, we genotyped 14 nsSNPs mapping to methylene-tetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR); DNA methyltransferase (DNMT2), ..
  34. D Angelo A, Coppola A, Madonna P, Fermo I, Pagano A, Mazzola G, et al. The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. Thromb Haemost. 2000;83:563-70 pubmed
    Total fasting plasma homocysteine (tHcy), homozygosity for the C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene and for the A2756G mutation of the methionine synthase (MS) gene, vitamin B12 and folate plasma levels ..
  35. Jacobs R, House J, Brosnan M, Brosnan J. Effects of streptozotocin-induced diabetes and of insulin treatment on homocysteine metabolism in the rat. Diabetes. 1998;47:1967-70 pubmed
    ..These results suggest that insulin is involved in the regulation of plasma homocysteine concentrations by affecting the hepatic transsulfuration pathway, which is involved in the catabolism of homocysteine. ..