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. Mtiraoui N, Ezzidi I, Chaieb M, Marmouche H, Aouni Z, Chaieb A, et al. MTHFR C677T and A1298C gene polymorphisms and hyperhomocysteinemia as risk factors of diabetic nephropathy in type 2 diabetes patients. Diabetes Res Clin Pract. 2007;75:99-106 pubmed
    Point mutations in methylenetetrahydrofolate reductase (MTHFR) and hyperhomocysteinemia were implicated in the pathogenesis of diabetic nephropathy (DN) in many ethnic groups...
  2. Ksiazek P, Bednarek Skublewska A, Buraczynska M. The C677T methylenetetrahydrofolate reductase gene mutation and nephropathy in type 2 diabetes mellitus. Med Sci Monit. 2004;10:BR47-51 pubmed
    ..Mutations of the methylenetetrahydrofolate reductase (MTHFR) gene have been shown to be associated with a predisposition to diabetic nephropathy in some ..
  3. 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...
  4. Maeda M, Yamamoto I, Fukuda M, Motomura T, Nishida M, Nonen S, et al. MTHFR gene polymorphism is susceptible to diabetic retinopathy but not to diabetic nephropathy in Japanese type 2 diabetic patients. J Diabetes Complications. 2008;22:119-25 pubmed publisher
    Previously, we have proposed that methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) could be a risk factor for diabetic retinopathy...
  5. Rai A, Singh S, Mehta S, Kumar A, Pandey L, Raman R. MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. J Hum Genet. 2006;51:278-83 pubmed
    ..Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity of this enzyme...
  6. Jünemann A, von Ahsen N, Reulbach U, Roedl J, Bönsch D, Kornhuber J, et al. C677T variant in the methylentetrahydrofolate reductase gene is a genetic risk factor for primary open-angle glaucoma. Am J Ophthalmol. 2005;139:721-3 pubmed
    To estimate the prevalence of C677T single nucleotide polymorphism in the 5,10-methylentetrahydrofolate reductase (MTHFR) gene in primary open-angle glaucoma (POAG) and pseudoexfoliation open-angle glaucoma (PEXG)...
  7. 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.
  8. Jamison R, Shih M, Humphries D, Guarino P, Kaufman J, Goldfarb D, et al. Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study. Am J Kidney Dis. 2009;53:779-89 pubmed publisher
    Abnormalities in the gene regulating methylenetetrahydrofolate reductase (MTHFR) are associated with increased homocysteine levels and increased mortality in normal and chronic kidney disease (CKD) populations. Gene association study...
  9. Neugebauer S, Baba T, Kurokawa K, Watanabe T. Defective homocysteine metabolism as a risk factor for diabetic retinopathy. Lancet. 1997;349:473-4 pubmed

More Information

Publications62

  1. Laing M, Dicker P, Moloney F, Ho W, Murphy G, Conlon P, et al. Association of methylenetetrahydrofolate reductase polymorphism and the risk of squamous cell carcinoma in renal transplant patients. Transplantation. 2007;84:113-6 pubmed
    ..any skin cancer) were genotyped for key polymorphisms in the folate pathway (methylene tetrahydrofolate reductase; MTHFR:C677T), and the vitamin D pathway (vitamin D receptor: Intron8G/T;)...
  2. Yilmaz H, Isbir S, Agachan B, Ergen A, Farsak B, Isbir T. C677T mutation of methylenetetrahydrofolate reductase gene and serum homocysteine levels in Turkish patients with coronary artery disease. Cell Biochem Funct. 2006;24:87-90 pubmed
    ..Elevated levels of homocysteine is a risk factor for coronary artery disease. The C677T transition in methylenetetrahydrofolate reductase (MTHFR) is associated with increased homocysteine levels in the general population...
  3. Carl G, Gill M, Schatz R. Effect of chronic primidone treatment on folate-dependent one-carbon metabolism in the rat. Biochem Pharmacol. 1987;36:2139-44 pubmed
    ..Serine hydroxymethyltransferase activity increased in both brain (44%) and liver (50%). Methylenetetrahydrofolate reductase activity increased in liver (26%) with a significant correlation to the length of treatment, but in ..
  4. 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 ..
  5. 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. ..
  6. 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...
  7. Jiang N, Zhu X, Zhang H, Wang X, Zhou X, Gu J, et al. The relationship between methylenetetrahydrofolate reductase polymorphism and hematological malignancy. Clin Lab. 2014;60:767-74 pubmed
    b>Methylenetetrahydrofolate reductase (MTHFR) is the key enzyme for folate metabolism...
  8. 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...
  9. 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 ..
  10. Volcik K, Shaw G, Lammer E, Zhu H, Finnell R. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res A Clin Mol Teratol. 2003;67:154-7 pubmed
    Several studies have suggested that homozygosity for the C677T 5,10-methylenetetrahydrofolate reductase (MTHFR) variant is a potential risk factor for neural tube defects (NTDs), as individuals homozygous for the C677T allele have ..
  11. 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 ..
  12. 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...
  13. Ferrara M, Capozzi L, Russo R. Impact of the MTHFR C677T polymorphism on risk of Wilms tumor: case-control study. J Pediatr Hematol Oncol. 2009;31:256-8 pubmed publisher
    ..By reducing tissue folate concentrations and inducing hypomethylation both TT and CT genotypes could be risk factors for WT (odds ratio >1). ..
  14. 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)...
  15. Mao R, Fan Y, Zuo L, Geng D, Meng F, Zhu J, et al. Association study between methylenetetrahydrofolate reductase gene polymorphisms and Graves' disease. Cell Biochem Funct. 2010;28:585-90 pubmed publisher
    5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides, which are essential for DNA synthesis and methylation...
  16. Chen G, Zhang C, Zhang X, Zhu Y, Tang J, Meng Z, et al. Cloning and expression of 5, 10-Methylenetetrahydrofolate reductase (MTHFR) gene. Sci China C Life Sci. 1998;41:636-43 pubmed publisher
    ..One of the important factors causing hyperhomocysteinemia is decrease of 5,10-Methylenetetrahydrofolate reductase. Human and rat MTHFR cDNAs with RT-PCR were isolated, a prokaryodytic expression vector containing ..
  17. Kühnlein P, Jung H, Farkas M, Keskitalo S, Ineichen B, Jelcic I, et al. The thermolabile variant of 5,10-methylenetetrahydrofolate reductase is a possible risk factor for amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12:136-9 pubmed publisher
    ..205) and gender (?(2) = 2.48, p = 0.115) using binary regression analysis. Results showed that the variant MTHFR c.677C>T was significantly associated with ALS, i.e. the T-allele was more frequent among patients...
  18. El Khodary N, El Haggar S, Eid M, Ebeid E. Study of the pharmacokinetic and pharmacogenetic contribution to the toxicity of high-dose methotrexate in children with acute lymphoblastic leukemia. Med Oncol. 2012;29:2053-62 pubmed publisher
    ..Methotrexate inhibits the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate by methylenetetrahydrofolate reductase (MTHFR). MTHFR has a common functional polymorphism C677T...
  19. 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...
  20. 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)...
  21. Soltanpour M, Soheili Z, Shakerizadeh A, Pourfathollah A, Samiei S, Meshkani R, et al. Methylenetetrahydrofolate reductase C677T mutation and risk of retinal vein thrombosis. J Res Med Sci. 2013;18:487-91 pubmed
    ..Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T mutation has been associated with elevated plasma Hcy concentration and may ..
  22. 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...
  23. 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...
  24. 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...
  25. 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 ..
  26. 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...
  27. Hotoleanu C, Trifa A, Popp R, Fodor D. The importance of homozygous polymorphisms of methylenetetrahydrofolate reductase gene in romanian patients with idiopathic venous thromboembolism. Balkan Med J. 2013;30:197-203 pubmed publisher
    b>Methylenetetrahydrofolate reductase (MTHFR) polymorphisms have recently raised the interest as a possible thrombophilic factors...
  28. 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...
  29. 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...
  30. Ozdemir O, Yenicesu G, Silan F, Koksal B, Atik S, Ozen F, et al. Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Genet Test Mol Biomarkers. 2012;16:279-86 pubmed publisher
    ..fibrinogen -455G>A, plasminogen activator inhibitor-1 (PAI-1), GPIIIa L33P (HPA-1 a/b L33P), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, ACE I/D, Apo B R3500Q, and Apo E genes...
  31. 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...
  32. 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 ..
  33. Gao W, Wang Y, Zhang P, Wang H. MTHFR C677T mutation in central retinal vein occlusion: a case-control study in Chinese population. Thromb Res. 2008;121:699-703 pubmed
    ..The aim of this study is to determine whether MTHFR C677T mutation is an independent risk factor for CRVO in the Chinese population...
  34. 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 (..
  35. 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...
  36. Trifa A, Cucuianu A, Popp R, Costache R, Coadă C, Sarca A, et al. Analysis of the MTHFR (methylenetetrahydrofolate reductase) 677 C>T and 1298 A>C polymorphisms in BCR-ABL-negative myeloproliferative neoplasms. Int J Lab Hematol. 2013;35:e9-12 pubmed publisher
  37. Tantawy A, El Bostany E, Adly A, Abou El Asrar M, El Ghouroury E, Abdulghaffar E. Methylene tetrahydrofolate reductase gene polymorphism in Egyptian children with acute lymphoblastic leukemia. Blood Coagul Fibrinolysis. 2010;21:28-34 pubmed publisher
    ..of 5,10 methylene tetrahydrofolate to 5-methylene tetrahydrofolate by methylene tetrahydrofolate reductase (MTHFR). MTHFR is central to folate metabolism and has two common functional polymorphisms (C677>T and A1298>C)...
  38. 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 ..
  39. 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...
  40. 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 ..
  41. Davis J, Brown A, Chen H, Wang Y, Poirier L, Eidt J, et al. Cigarette smoke increases intimal hyperplasia and homocysteine in a rat carotid endarterectomy. J Surg Res. 2004;121:69-75 pubmed
    ..Folic acid (FA) and the homocysteine metabolic enzymes MTHFR and CBS were used to test for the significance of homocysteine elevation. Rats underwent an open CEA...
  42. 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...
  43. 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...
  44. 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...
  45. Kalkan G, Karakus N, Yigit S. Association of MTHFR gene C677T mutation with recurrent aphthous stomatitis and number of oral ulcers. Clin Oral Investig. 2014;18:437-41 pubmed publisher
    Recurrent aphthous stomatitis (RAS) is a common ulcerative disease of the oral mucosa. Methylenetetrahydrofolate reductase (MTHFR) gene variants are associated with thrombophilia and vasculopathy that may result in oral ulceration...
  46. 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...
  47. 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...
  48. 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)...
  49. Li X, Wei Y, Hao H, Hao Y, He L, Li J, et al. Hyperhomocysteinemia and the MTHFR C677T mutation in Budd-Chiari syndrome. Am J Hematol. 2002;71:11-4 pubmed
    ..HH) is a factor that predisposes individuals to thrombosis, and the C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) is known to give increased plasma homocysteine...
  50. 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), ..
  51. Poduri A, Mukherjee D, Sud K, Kohli H, Sakhuja V, Khullar M. MTHFR A1298C polymorphism is associated with cardiovascular risk in end stage renal disease in North Indians. Mol Cell Biochem. 2008;308:43-50 pubmed
    The methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism has been shown to be associated with cardiovascular disease and in patients with end-stage renal disease (ESRD)...
  52. 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 ..
  53. 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. ..