MTHFR

Summary

Gene Symbol: MTHFR
Description: methylenetetrahydrofolate reductase (NAD(P)H)
Alias: 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase
Species: human

Top Publications

  1. doi MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic
    Barbara Pardini
    Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14200 Prague 4, Czech Republic
    Mutat Res 721:74-80. 2011
  2. doi Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase (C677T, A1298C, and G1793A) as risk factors for idiopathic male infertility
    Mohammad Reza Safarinejad
    Private Practice of Urology and Andrology, POBox 19395 1849, Tehran, Iran
    Reprod Sci 18:304-15. 2011
  3. ncbi A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
    P Frosst
    Nat Genet 10:111-3. 1995
  4. pmc A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
    N M van der Put
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 62:1044-51. 1998
  5. ncbi A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    I Weisberg
    Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, H3Z 2Z3, Canada
    Mol Genet Metab 64:169-72. 1998
  6. doi Dietary vitamin B6 intake and the risk of colorectal cancer
    Evropi Theodoratou
    Public Health Sciences, College of Medicine and Vet Medicine, University of Edinburgh, Edinburgh, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:171-82. 2008
  7. doi Association of the functional polymorphism C677T in the methylenetetrahydrofolate reductase gene with colorectal, thyroid, breast, ovarian, and cervical cancers
    Vidudala V T S Prasad
    Research and Development, Basavatarakam Indo American Cancer Hospital and Research Institute, Hyderabad, India
    Onkologie 34:422-6. 2011
  8. doi Association of MTHFR, MTR, MTRR, RFC1, and DHFR gene polymorphisms with susceptibility to sporadic colon cancer
    Mladen Jokic
    Laboratory for Personalized Medicine, Division of Molecular Medicine, Ruđer Bošković Institute, Zagreb, Croatia
    DNA Cell Biol 30:771-6. 2011
  9. ncbi 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
    L D Botto
    Birth Defects and Pediatric Genetics Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Epidemiol 151:862-77. 2000
  10. doi Methylenetetrahydrofolate reductase polymorphisms and breast cancer risk: a meta-analysis from 41 studies with 16,480 cases and 22,388 controls
    Xiaowei Qi
    Breast Disease Center, Southwest Hospital, Third Military Medical University, Gaotanyan Street 29, Chongqing, 400038, China
    Breast Cancer Res Treat 123:499-506. 2010

Research Grants

Detail Information

Publications284 found, 100 shown here

  1. doi MTHFR and MTRR genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from the Czech Republic
    Barbara Pardini
    Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Videnska 1083, 14200 Prague 4, Czech Republic
    Mutat Res 721:74-80. 2011
    ..In the present study, we have assessed the association of six polymorphisms and relative haplotypes in the MTHFR gene (rs1801133 and rs1801131) and in the MTRR gene (rs1801394, rs1532268, rs162036, and rs10380) with the risk ..
  2. doi Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase (C677T, A1298C, and G1793A) as risk factors for idiopathic male infertility
    Mohammad Reza Safarinejad
    Private Practice of Urology and Andrology, POBox 19395 1849, Tehran, Iran
    Reprod Sci 18:304-15. 2011
    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...
  3. ncbi A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
    P Frosst
    Nat Genet 10:111-3. 1995
    ..5, 10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the ..
  4. pmc A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
    N M van der Put
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 62:1044-51. 1998
    Recently, we showed that homozygosity for the common 677(C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing thermolability of the enzyme, is a risk factor for neural-tube defects (NTDs)...
  5. ncbi A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
    I Weisberg
    Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, H3Z 2Z3, Canada
    Mol Genet Metab 64:169-72. 1998
    A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with reduced activity...
  6. doi Dietary vitamin B6 intake and the risk of colorectal cancer
    Evropi Theodoratou
    Public Health Sciences, College of Medicine and Vet Medicine, University of Edinburgh, Edinburgh, United Kingdom
    Cancer Epidemiol Biomarkers Prev 17:171-82. 2008
    ..energy, folate, and fiber intake, were applied in the whole sample and after age, sex, cancer site, folate, MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131), MTR A2756G (rs1805087), and MTRR A66G (rs1801394) stratification (..
  7. doi Association of the functional polymorphism C677T in the methylenetetrahydrofolate reductase gene with colorectal, thyroid, breast, ovarian, and cervical cancers
    Vidudala V T S Prasad
    Research and Development, Basavatarakam Indo American Cancer Hospital and Research Institute, Hyderabad, India
    Onkologie 34:422-6. 2011
    Polymorphisms of the gene encoding methylenetetrahydrofolate reductase (MTHFR) have been studied widely in various cancers, excluding thyroid cancer...
  8. doi Association of MTHFR, MTR, MTRR, RFC1, and DHFR gene polymorphisms with susceptibility to sporadic colon cancer
    Mladen Jokic
    Laboratory for Personalized Medicine, Division of Molecular Medicine, Ruđer Bošković Institute, Zagreb, Croatia
    DNA Cell Biol 30:771-6. 2011
    ..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 ..
  9. ncbi 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
    L D Botto
    Birth Defects and Pediatric Genetics Branch, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30341, USA
    Am J Epidemiol 151:862-77. 2000
    The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36...
  10. doi Methylenetetrahydrofolate reductase polymorphisms and breast cancer risk: a meta-analysis from 41 studies with 16,480 cases and 22,388 controls
    Xiaowei Qi
    Breast Disease Center, Southwest Hospital, Third Military Medical University, Gaotanyan Street 29, Chongqing, 400038, China
    Breast Cancer Res Treat 123:499-506. 2010
    The association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and breast cancer risk has been widely reported, but results were inconsistent and underpowered...
  11. pmc A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status
    Simonetta Friso
    Vitamin Metabolism Laboratory, Jean Mayer U S Department of Agriculture Human Nutrition Research on Aging at Tufts University, 711 Washington Street, Boston, MA 02111, USA
    Proc Natl Acad Sci U S A 99:5606-11. 2002
    ..b>Methylenetetrahydrofolate reductase (MTHFR) catalyzes the synthesis of 5-methyltetrahydrofolate (5-methylTHF), the methyl donor for ..
  12. doi Risk of colorectal cancer associated with the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in the Kashmiri population
    A S Sameer
    Department of Immunology and Molecular Medicine, Sher I Kashmir Institute of Medical Sciences, Kashmir, India
    Genet Mol Res 10:1200-10. 2011
    b>Methylenetetrahydrofolate reductase (MTHFR) is a critical enzyme in folate metabolism and is involved in DNA synthesis, DNA repair and DNA methylation...
  13. doi Gene polymorphisms involved in folate and methionine metabolism and increased risk of sporadic colorectal adenocarcinoma
    José Luiz Miranda Guimarães
    Service of Oncohematology, Department of Clinical Oncology from Hospital Santa Rita Complexo Hospitalar Santa Casa, Grupo Hospitalar Conceição, Rua Capitão Pedro Werlang, 614, Partenon, Porto Alegre, Rio Grande do Sul, Cep 91530110, Brazil
    Tumour Biol 32:853-61. 2011
    This pilot study has compared the polymorphic genotype frequencies of methylenetetrahydrofolate reductase (MTHFR A1298C and C677T), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR A66G), and thymidylate synthase (TS ..
  14. doi Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis
    Simon M Collin
    Department of Social Medicine, University of Bristol, Canynge Hall, 39 Whatley Road, Bristol, BS8 2PS United Kingdom
    Cancer Epidemiol Biomarkers Prev 18:2528-39. 2009
    ..We investigated by meta-analysis the effects of eight polymorphisms: MTHFR C677T (rs1801133; 12 studies; 10,745 cases; 40,158 controls), MTHFR A1298C (rs1801131; 5 studies; 3,176 cases; 4,..
  15. ncbi MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis
    Mariska Klerk
    Division of Human Nutrition and Epidemiology, Wageningen University, PO Box 8129, 6700 EV Wageningen, The Netherlands
    JAMA 288:2023-31. 2002
    ..The MTHFR 677C-->T polymorphism is a genetic alteration in an enzyme involved in folate metabolism that causes elevated ..
  16. doi Folate and choline metabolism gene variants and development of uterine cervical carcinoma
    Adrianna Mostowska
    Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6 Swiecickiego St, 60 781 Poznan, Poland
    Clin Biochem 44:596-600. 2011
    ..The aim of this study was to evaluate the possibility that polymorphic variants of genes that may affect DNA methylation status are associated with the risk of cervical cancer in the Polish population...
  17. doi A meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in children
    Jingrong Yan
    Department of Pediatrics, Texas Children s Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA
    Pediatr Blood Cancer 58:513-8. 2012
    b>Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms have been implicated in childhood acute lymphoblastic leukemia (ALL) risk, but previously published studies were inconsistent and recent meta-analyses were not ..
  18. pmc Meta- and pooled analyses of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and colorectal cancer: a HuGE-GSEC review
    E Taioli
    SUNY Downstate Medical Center, Brooklyn, New York 11203, USA
    Am J Epidemiol 170:1207-21. 2009
    ..A common polymorphism in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene has been associated with a lower risk of CRC...
  19. ncbi Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma
    Carmen S P Lima
    Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas, Campinas, Sao Paulo, CP 6111, 13083 970, Brazil
    Int J Colorectal Dis 22:757-63. 2007
    Evidence is accumulating for a role of folate in the aetiology of colorectal cancer (CRC). The methylenetetrahydrofolate reductase (MTHFR) gene, involved in folate metabolism, is polymorphic in humans...
  20. ncbi A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer
    J Chen
    Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA
    Cancer Res 56:4862-4. 1996
    We examined the relationship of a common polymorphism (667C-->T) of the methylenetetrahydrofolate reductase (MTHFR) gene with the risk of colorectal cancer in a case-control study conducted in the Health Professionals Follow-up Study...
  21. ncbi Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysis
    Susanna C Larsson
    Division of Nutritional Epidemiology, National Institute of Environmental Medicine, Karolinska Institutet, SE 171 77 Stockholm, Sweden
    Gastroenterology 131:1271-83. 2006
    ..epidemiologic studies evaluating the association of folate intake or genetic polymorphisms in 5,10-methylenetetrahydrofolate reductase (MTHFR), a central enzyme in folate metabolism, with risk of esophageal, gastric, or pancreatic ..
  22. pmc The methylenetetrahydrofolate reductase 677C-->T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolism
    Steinar Hustad
    The Hormone Laboratory, Haukeland University Hospital, Bergen, Norway
    Am J Hum Genet 80:846-55. 2007
    Folates are carriers of one-carbon units and are metabolized by 5,10-methylenetetrahydrofolate reductase (MTHFR) and other enzymes that use riboflavin, cobalamin, or vitamin B6 as cofactors...
  23. doi Genetic variants of methyl metabolizing enzymes and epigenetic regulators: associations with promoter CpG island hypermethylation in colorectal cancer
    Stefan de Vogel
    Departments of Epidemiology, GROW School for Oncology and Developmental Biology, Nutrition and Toxicology Research Institute Maastricht, Maastricht University, Maastricht, The Netherlands
    Cancer Epidemiol Biomarkers Prev 18:3086-96. 2009
    ..We studied associations of genetic variants of folate metabolizing enzymes (MTHFR, MTR, and MTRR), DNA methyltransferase DNMT3b, and histone methyltransferases (EHMT1, EHMT2, and PRDM2), with ..
  24. ncbi Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects
    Anne Parle-McDermott
    Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
    J Hum Genet 48:190-3. 2003
    The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs)...
  25. ncbi Gene polymorphisms and male infertility--a meta-analysis and literature review
    Frank Tüttelmann
    Institute of Reproductive Medicine of the University, Domagkstrasse 11, D 48129 Munster, Germany
    Reprod Biomed Online 15:643-58. 2007
    ..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. ncbi Association of the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) polymorphisms in Korean patients with adult acute lymphoblastic leukemia
    Doyeun Oh
    Institute for Clinical Research, 2Department of Internal Medicine, Pochon CHA University, Seongnam, South Korea
    Anticancer Res 27:3419-24. 2007
    b>Methylenetetrahydrofolate reductase (MTHFR) plays a central role in converting folate to methyl donor for DNA methylation...
  27. ncbi Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north Italy
    Giuseppe Toffoli
    Experimental and Clinical Pharmacology Unit, Division of Experimental Oncology 1, Centro di Riferimento Oncologico, Aviano PN, Italy
    Clin Cancer Res 9:743-8. 2003
    ..Conversely, DNA hypomethylation has been associated with distal colon cancer (CLC). Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5',10'-methylenetetrahydrofolate to 5'-methyl tetrahydrofolate, ..
  28. ncbi Gene-gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in children
    Bohanec Grabar Petra
    Institute of Biochemistry, University of Ljubljana, Ljubljana, Slovenia
    Leuk Lymphoma 48:786-92. 2007
    ..We analysed common genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR), thymidylate synthase (TS), methionine synthase (MS) and methionine synthase reductase (..
  29. ncbi Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A
    Peter L Rady
    Department of Pediatrics, University of Texas Medical Branch, Galveston, Texas 77555 0359, USA
    Am J Med Genet 107:162-8. 2002
    ..The polymorphic MTHFR mutations (C677T and A1298C) cause mild hyperhomocysteinemia, especially in homozygotes for C677T, but also in ..
  30. doi Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis
    Ouxi Shen
    The Center for Disease Control and Prevention of Suzhou Industrial Park, Suzhou, China
    Ann Hum Genet 76:25-32. 2012
    Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive...
  31. doi Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian population
    Mohammad Shekari
    Department of Biotechnology, Punjab University, Chandigarh, India
    Arch Gynecol Obstet 278:517-24. 2008
    Cervical cancer continues to be the most common cause of death among women in developing countries. Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) are critical enzymes of folate metabolic pathways...
  32. doi MTHFR gene polymorphism and its relationship with plasma homocysteine and folate in a North Indian population
    Usha Kant Misra
    Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareily Road, Lucknow 226014, India
    Biochem Genet 48:229-35. 2010
    ..of data on the prevalence of elevated homocysteine and its relation with plasma folate and the methylenetetrahydrofolate reductase (MTHFR) gene in the population of North India...
  33. doi Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India
    Koumudi Godbole
    Diabetes Unit, KEM Hospital Research Center, Rasta Peth, Pune, India
    Birth Defects Res A Clin Mol Teratol 91:848-56. 2011
    ..Vitamin B(12) deficiency is reported to be more prevalent than folate deficiency in the Indian population. We investigated the role of maternal nutritional and genetic markers related to one-carbon metabolism in the etiology of NTDs...
  34. pmc Genetic variation in the folate metabolic pathway and risk of childhood leukemia
    Tracy J Lightfoot
    Epidemiology and Genetics Unit, Department of Health Sciences, University of York, York, UK
    Blood 115:3923-9. 2010
    ..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 ..
  35. doi Common polymorphisms in methylenetetrahydrofolate reductase gene are associated with risks of cervical intraepithelial neoplasia and cervical cancer in women with low serum folate and vitamin B12
    Seo Yun Tong
    Department of Obstetrics and Gynecology, East West Neo Medical Center, Kyunghee University College of Medicine, Seoul, Korea
    Cancer Causes Control 22:63-72. 2011
    We evaluated associations between folate, vitamin B12, and the methylenetetrahydrofolate reductase (MTHFR) gene, and risk of cervical intraepithelial neoplasia (CIN) and cervical cancer.
  36. ncbi Gene polymorphisms in TYMS, MTHFR, p53 and MDR1 as risk factors for breast cancer: a case-control study
    L A Henríquez-Hernández
    Clinical Science Department, Universidad de Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain
    Oncol Rep 22:1425-33. 2009
    ..However, the results have been controversial. We investigated the association of TSER, MTHFR C677T, p53 codon 72 and MDR1 C3435T gene polymorphisms with breast carcinoma in women from Canary Islands (Spain)...
  37. doi An updated meta-analysis of methylenetetrahydrofolate reductase gene 677C/T polymorphism with diabetic nephropathy and diabetic retinopathy
    WenQuan Niu
    State Key Laboratory of Medical Genomics, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Diabetes Res Clin Pract 95:110-8. 2012
    Studies investigating the association of methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism with diabetic nephropathy and diabetic retinopathy have so far reported inconclusive results...
  38. doi Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemia
    Robert de Jonge
    Clinical Chemistry, Erasmus University Medical Center, Rotterdam, The Netherlands
    Blood 113:2284-9. 2009
    ..Polymorphisms in methylene-tetrahydrofolate reductase (MTHFR 677C>T, 1298A>C), methionine synthase (MTR 2756A>G), methionine synthase reductase (MTRR 66A>G), ..
  39. pmc Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet
    Karen Curtin
    Department of Internal Medicine, University of Utah Health Sciences Center, 375 Chipeta Way, Suite A, Salt Lake City, UT 84108, USA
    Carcinogenesis 28:1672-9. 2007
    ..Candidate polymorphisms in methylenetetrahydrofolate reductase (MTHFR), thymidylate synthase (TS), transcobalamin II (TCNII), methionine synthase (MTR), reduced ..
  40. ncbi Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review
    Simon Gilbody
    Department of Health Sciences, Alcuin College, University of York, York, United Kingdom
    Am J Epidemiol 165:1-13. 2007
    ..performed a meta-analysis of studies examining the association between polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, including MTHFR C677T and A1298C, and common psychiatric disorders, including ..
  41. ncbi Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China
    Min Shen
    Occupational and Environmental Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, MSC 7240, 6120 Executive Blvd, Bethesda, MD 20892 7240, USA
    Lung Cancer 49:299-309. 2005
    ..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)...
  42. ncbi Folate-related genes and the risk of tobacco-related cancers in Central Europe
    Rayjean J Hung
    International Agency for Research on Cancer, 150 cours Albert Thomas, F 69372, 69008, Lyon Cedex 08, France
    Carcinogenesis 28:1334-40. 2007
    ..The methylenetetrahydrofolate reductase (MTHFR) C677T variant was associated with an increased risk of lung cancer with an odds ratio (OR) ..
  43. ncbi Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes
    Katrina A B Goddard
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, USA
    Hum Hered 63:1-16. 2007
    ..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...
  44. ncbi A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancer
    Bastiaan T Heijmans
    Molecular Epidemiology Section, Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, 2300 RA Leiden, The Netherlands
    Cancer Res 63:1249-53. 2003
    ..A common Ala(222)/Val variant in the methylenetetrahydrofolate reductase (MTHFR) gene leads to a disturbed folate metabolism and is associated with decreased genomic DNA ..
  45. pmc MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucoma
    Shazia Micheal
    Department of Biosciences, COMSATS Institute of Information Technology, Islamabad 44000, Pakistan
    Mol Vis 15:2268-78. 2009
    To investigate the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C genotypes and plasma concentrations of total homocysteine (tHcy) in Pakistani patients with primary open angle glaucoma (POAG) and primary closed angle ..
  46. ncbi Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study
    Guang Yin
    Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582
    Cancer Sci 95:908-13. 2004
    b>Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating folate metabolism, which affects DNA synthesis and methylation...
  47. ncbi One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan
    Keitaro Matsuo
    Division of Epidemiology and Prevention, Aichi Cancer Center, Nagoya 464 8681, Japan
    Carcinogenesis 26:2164-71. 2005
    ..polymorphisms in genes encoding members of this pathway, MTHFR C677T and A1298C (genes for methylenetetrahydrofolate reductase), MTR A2756G (gene for methionine synthase) and TS (gene for thymidylate synthase) tandem repeats ..
  48. ncbi B-vitamin intake, metabolic genes, and colorectal cancer risk (United States)
    Loic Le Marchand
    Etiology Program, Cancer Research Center of Hawaii, University of Hawaii, Honolulu 96813, USA
    Cancer Causes Control 13:239-48. 2002
    ..study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and ..
  49. pmc A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability
    B Shannon
    Department of Surgery, University of Western Australia, Nedlands 6009, Australia
    Gut 50:520-4. 2002
    The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyses the formation of folate intermediates that are vital to methylation reactions...
  50. ncbi Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)
    P Goyette
    Department of Human Genetics, McGill University Health Center, Montreal, Quebec, Canada H3H 1P3
    Mamm Genome 9:652-6. 1998
    b>Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A human cDNA for MTHFR, 2...
  51. doi Blood pressure and hypertension are associated with 7 loci in the Japanese population
    Fumihiko Takeuchi
    Department of Gene Diagnostics and Therapeutics, Research Institute, International Medical Center of Japan, Tokyo, Japan
    Circulation 121:2302-9. 2010
    ....
  52. pmc MTHFR 677C --> T genotype disrupts prefrontal function in schizophrenia through an interaction with COMT 158Val --> Met
    Joshua L Roffman
    Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129, USA
    Proc Natl Acad Sci U S A 105:17573-8. 2008
    ..A second polymorphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T (rs1801133), has been associated with overall schizophrenia risk and ..
  53. doi MTHFR 677 C>T Polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosis
    Charalambos Antoniades
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Circulation 119:2507-15. 2009
    ..We sought to distinguish the effects of plasma versus vascular tissue 5-MTHF and homocysteine on vascular redox and endothelial nitric oxide bioavailability in human vessels...
  54. pmc Dietary intake of folate, vitamin B6, and vitamin B12, genetic polymorphism of related enzymes, and risk of breast cancer: a case-control study in Brazilian women
    Enbo Ma
    Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, Tokyo, Japan
    BMC Cancer 9:122. 2009
    ..of B vitamins may be associated with breast cancer risk as a result of interactions between 5,10-methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MTR) in the one-carbon metabolism pathway...
  55. doi Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control study
    Mirande Candito
    INSERM U 145, Department of Biochemistry, CHU Nice Hôpital Pasteur, Nice, France
    Am J Med Genet A 146:1128-33. 2008
    ..Plasma and erythrocyte folate, plasma B6, B12 and Hcy were tested as five polymorphisms MTHFR 677 C --> T, MTHFR 1298 A --> C, MTR 2756 A --> G, MTTR 66 A --> G and TCN2 776 C --> G...
  56. ncbi A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian Indians
    M Mukherjee
    Cumballa Hill Hospital and Heart Institute, Bombay, India
    Clin Genet 61:155-9. 2002
    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-..
  57. ncbi Colorectal cancer and the methylenetetrahydrofolate reductase 677C -> T and methionine synthase 2756A -> G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort
    Arve Ulvik
    Department of Pharmacology, University of Bergen, Armauer Hansens Hus, N 5021 Bergen, Bergen, Norway
    Cancer Epidemiol Biomarkers Prev 13:2175-80. 2004
    ..We evaluated the relation between the polymorphisms 677C --> T of the methylenetetrahydrofolate reductase (MTHFR) and 2756A --> G of the methionine synthase (MTR) genes and risk of colorectal cancer...
  58. pmc Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida
    Carla A Martinez
    Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Health Science Center, Houston, TX, USA
    Am J Obstet Gynecol 201:394.e1-11. 2009
    ..We tested putative functional single nucleotide polymorphisms (SNPs) in genes that regulate the folate/homocysteine metabolism pathway for their contribution to spina bifida (SB) susceptibility...
  59. doi Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapy
    Antonia M Fernández-Peralta
    Unidad de Genetica, Departamento de Biologia, Universidad Autonoma de Madrid, Cantoblanco, 28049 Madrid, Spain
    Int J Colorectal Dis 25:141-51. 2010
    The enzyme MTHFR plays an important role in folate metabolism, and folate is implicated in carcinogenesis due to its role in DNA methylation, repair, and synthesis...
  60. ncbi Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseases
    A H Wu
    Department of Pathology and Laboratory Medicine, Hartford Hospital, Hartford, Connecticut 06102, USA
    Am J Cardiol 87:1361-6. 2001
    ..G20210A variant), V Leiden (G1691A), VII (R353Q), glycoprotein (GP) IIIa receptor (PI(A1/A2)), and methylenetetrahydrofolate reductase (MTHFR, C677T)...
  61. pmc 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects
    Gary M Shaw
    Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, CA, USA
    BMC Med Genet 10:49. 2009
    ..Investigations into genetic variation that influences transport and metabolism of folate will help fill this data gap. We focused on 118 SNPs involved in folate transport and metabolism...
  62. pmc Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
    A Jakubowska
    Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    Br J Cancer 106:2016-24. 2012
    ..Two genes of special interest are prohibitin (PHB) and methylene-tetrahydrofolate reductase (MTHFR), both of which are important either directly or indirectly in maintaining genomic integrity.
  63. ncbi The effect of methylenetetrahydrofolate reductase polymorphism C677T on cervical cancer in Korean women
    Jae Woong Sull
    Department of Preventive Medicine and Public Health, Yonsei University College of Medicine, 134 Shinchon dong, Seodaemun gu, Seoul 120 752, Republic of Korea
    Gynecol Oncol 95:557-63. 2004
    b>Methylenetetrahydrofolate reductase (MTHFR) gene is associated with DNA hypomethylation, an established hallmark of human cancer cells...
  64. pmc Risk factors for colon cancer in Northeastern Thailand: interaction of MTHFR codon 677 and 1298 genotypes with environmental factors
    Supannee Sriamporn Promthet
    Department of Epidemiology, Faculty of Public Health, Khon Kaen University, Khon Kaen 40002, Thailand
    J Epidemiol 20:329-38. 2010
    Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), such as MTHFR C677T and A1298C, are associated with several cancers...
  65. ncbi Synergistic effect of methyltetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism as risk modifiers of pediatric acute lymphoblastic leukemia
    Azza M Kamel
    The Department of Clinical Pathology, National Cancer Institute, Cairo University
    J Egypt Natl Canc Inst 19:96-105. 2007
    ..of this work was to evaluate, in a case-control study, whether the common polymorphisms in 5, 10-methylenetetrahydrofolate reductase (MTHFR) namely (C677T and A1298C) and methionine synthase (MS) (A2756G) genes may play a role in ..
  66. doi MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysis
    Bingbing Wei
    Department of Urology, Affiliated Wuxi People s Hospital of Nanjing Medical University, 299 Qingyang Road, Wuxi 214023, China
    Mol Biol Rep 39:1997-2002. 2012
    Epidemiological studies have evaluated the association between MTHFR 677C>T and 1298A>C polymorphisms and risk of male infertility...
  67. doi Evaluation of MTHFR C677T polymorphism in ischemic and hemorrhagic stroke patients. A case-control study in a Northern Indian population
    B I Somarajan
    Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
    J Neurol Sci 304:67-70. 2011
    The present study was aimed to evaluate MTHFR C677T gene polymorphism in patients with ischemic stroke (IS) and intracerebral hemorrhage (ICH) and compare it with controls.
  68. ncbi GST M1/T1 and MTHFR polymorphisms as risk factors for hypertension
    Cláudia Marinho
    Genetics Laboratory, Centre of Metabolism and Endocrinology, Lisbon Medical School, University of Lisbon, Portugal
    Biochem Biophys Res Commun 353:344-50. 2007
    The aim of this study is to investigate GSTM1, GSTT1 and MTHFR genetic polymorphisms and its relation with total plasma glutathione (tGSH) levels in hypertension...
  69. ncbi The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progression
    B M Ryan
    Department of Gastroenterology and Clinical Medicine, St James s Hospital and Trinity College, Dublin, Ireland
    Int J Gastrointest Cancer 30:105-11. 2001
    Folate deficiency predisposes to sporadic colorectal cancer (CRC). Methylenetetrahydrofolate reductase (MTHFR) is a critical folate-metabolising enzyme and a polymorphism at position 677 (C677T), is associated with reduced enzyme ..
  70. ncbi Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancer
    Lee E Moore
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Rockville, MD, USA
    Int J Cancer 120:2452-8. 2007
    ..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...
  71. ncbi Methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase promoter (TSER) polymorphisms in Indonesian children with and without leukemia
    Elisa Giovannetti
    Department of Medical Oncology, VU Institute for Cancer and Immunology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
    Leuk Res 32:19-24. 2008
    ..repeat sequence of the enhancer region of the thymidylate synthase promoter (TSER), as well as in methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, influence methotrexate sensitivity...
  72. ncbi Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review
    Linda Sharp
    Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Scotland, UK
    Am J Epidemiol 159:423-43. 2004
    ..Some polymorphic genes involved in folate metabolism--methylenetetrahydrofolate reductase (MTHFR C677T and A1298C), methionine synthase (MTR A2756G), methionine synthase reductase (MTRR ..
  73. doi A study on thrombophilic factors in Italian Behcet's patients
    Paola Caramaschi
    Dipartimento di Medicina Clinica Sperimentale, Policlinico G B Rossi, Piazzale Scuro, 37134 Verona, Italy
    Joint Bone Spine 77:330-4. 2010
    ..Behcet's disease (BD) may complicate with arterial and venous thrombosis. The purpose of this work is to evaluate in an Italian group of BD patients with thrombotic events a large panel of inherited and acquired thrombophilic factors...
  74. ncbi Folate pathway genetic polymorphisms are related to attention disorders in childhood leukemia survivors
    Kevin R Krull
    Learning Support Center for Child Psychology, Texas Children s Hospital, Houston, TX, USA
    J Pediatr 152:101-5. 2008
    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) ..
  75. ncbi Sex differences in risk of lung cancer associated with methylene-tetrahydrofolate reductase polymorphisms
    Qiuling Shi
    Department of Epidemiology, The University of Texas M D Anderson Cancer Center, Unit 189, 1515 Holcombe Boulevard, Houston, Texas 77030, USA
    Cancer Epidemiol Biomarkers Prev 14:1477-84. 2005
    b>Methylenetetrahydrofolate reductase (MTHFR) catalyzes the metabolism of folate and nucleotides needed for DNA synthesis and repair. Variations in MTHFR functions likely play roles in the etiology of lung cancer...
  76. ncbi Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia
    Joshua L Roffman
    Schizophrenia Research Program, Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Biol Psychiatry 63:42-8. 2008
    ..We examined whether the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C functional polymorphisms contribute to negative symptoms.
  77. ncbi Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism
    Ase Fredriksen
    LOCUS for Homocysteine and Related Vitamins, University of Bergen, Bergen, Norway
    Hum Mutat 28:856-65. 2007
    ..All subjects were genotyped for 13 common polymorphisms: methylenetetrahydrofolate reductase (MTHFR) c.665C>T (known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p...
  78. pmc The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma
    M Sarbia
    Department of Pathology, Technical University of Munich, Institut für Allgemeine Pathologie, Trogerstr 28, Munich D 81675, Germany
    Br J Cancer 94:203-7. 2006
    ..pretherapeutic tumour biopsies and was subsequently genotyped for common genetic polymorphisms of three genes (MTHFR C677T, MTR A2756G, TS tandem repeat polymorphism) involved in folate metabolism and potentially in sensitivity to ..
  79. ncbi [Folate and homocysteine levels during pregnancy affect DNA methylation in human placenta]
    Bo Hyun Park
    Department of Preventive Medicine, Ewha Womans University
    J Prev Med Public Health 38:437-42. 2005
    ..present study, we investigated the association between DNA methylation in the human placenta and the maternal folate and homocysteine concentrations on the Methylenetetrahydrofolatereductase (MTHFR) genetic polymorphism during pregnancy.
  80. ncbi Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study
    P Haggarty
    Nutrition and Epigenetics Group, Rowett Research Institute, Bucksburn, Aberdeen, UK
    Lancet 367:1513-9. 2006
    ..Our aim was to assess the role of B vitamins and genetics...
  81. ncbi Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility
    Han Chul Lee
    Functional Genomics Lab, CHA Research Institute, Bundang Campus, College of Medicine, Pochon CHA University, Kyunggi Do, Republic of Korea
    Hum Reprod 21:3162-70. 2006
    Three typical folate metabolism enzymes-i.e. methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS) and MS reductase (MTRR) in the folate cycle-play a critical role in DNA synthesis and methylation reactions...
  82. ncbi MTHFR C677T polymorphism, GSTM1 deletion and male infertility: a possible suggestion of a gene-gene interaction?
    V Paracchini
    University of Pittsburgh Cancer Institute, Pittsburgh, PA 15232, USA
    Biomarkers 11:53-60. 2006
    b>Methylenetetrahydrofolate reductase (MTHFR) is a gene involved in the process of DNA synthesis and methylation. The MTHFR C677T polymorphism has been associated with male infertility...
  83. ncbi Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control study
    Jan Willem Muntjewerff
    GGz Nijmegen, Mental Health Institute, Nijmegen, The Netherlands
    Am J Med Genet B Neuropsychiatr Genet 135:69-72. 2005
    ..homocysteine concentrations or homozygosity for the 677C --> T polymorphism (677TT) in the methylenetetrahydrofolate reductase (MTHFR) gene in subjects of Dutch ancestry...
  84. ncbi Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studies
    M Den Heijer
    Department of Endocrinology 531, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    J Thromb Haemost 3:292-9. 2005
    ..It has been suggested that elevated total plasma homocysteine levels are associated with the risk of venous thrombosis...
  85. pmc Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts
    Celia Ravel
    Human Developmental Genetics, Institut Pasteur, Paris, France
    PLoS ONE 4:e6540. 2009
    ..Notably, the gene Methylenetetrahydrofolate reductase (MTHFR) in which the homozygous (TT) state of the polymorphism c.665C>T (p...
  86. doi MTHFR A1298C polymorphism and idiopathic male infertility
    K Singh
    Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India
    J Postgrad Med 56:267-9. 2010
    ..The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyses the formation of folate intermediates that are vital for DNA synthesis and ..
  87. doi Gene polymorphisms and risk of adult early-onset ischemic stroke: A meta-analysis
    Xiao yu Xin
    Department of Neurology and Institute of Neurology, Ruijin Hospital, Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China
    Thromb Res 124:619-24. 2009
    ..Through meta-analysis, this study was conducted to determine the genetic risk contributed by each susceptibility gene polymorphism, particularly in adult early-onset ischemic stroke patients...
  88. pmc MTHFR 677C>T effects on anterior cingulate structure and function during response monitoring in schizophrenia: a preliminary study
    Joshua L Roffman
    Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Brain Imaging Behav 5:65-75. 2011
    ..We examined whether the hypofunctional 677C>T variant in MTHFR, a candidate schizophrenia risk gene, contributed to our previous findings of blunted error-related dACC ..
  89. doi Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts
    Debbie Montjean
    Advanced Technology Laboratory, La Verriere, Paris, France
    Fertil Steril 95:635-40. 2011
    To investigate the relationship between MTHFR and MTRR genetic variants with respect to both blood plasma homocysteine concentration and sperm counts.
  90. ncbi Characterization of MTHFR, GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes in childhood acute leukemia
    Gunay Balta
    Hacettepe University, Faculty of Medicine, Department of Pediatrics, Institute of Child Health and Section of Pediatric Hematology, Ankara, Turkey
    Am J Hematol 73:154-60. 2003
    The role of methylenetetrahydrofolate reductase (MTHFR C677T), glutathione S-transferases (GSTM1 and GSTT1 null, GSTP1 Ile105Val), and cytochromes p450 (CYP1A1*2A) genotypes in the etiology of childhood leukemia was simultaneously ..
  91. pmc Methylenetetrahydrofolate reductase C677T polymorphism in patients with gastric and colorectal cancer in a Korean population
    Lian Hua Cui
    Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea
    BMC Cancer 10:236. 2010
    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.
  92. pmc MTHFR C677T and postmenopausal breast cancer risk by intakes of one-carbon metabolism nutrients: a nested case-control study
    Sonia S Maruti
    Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109 1024 USA
    Breast Cancer Res 11:R91. 2009
    The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene has been hypothesized to increase breast cancer risk...
  93. doi Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian men
    Marcello Machado Gava
    Division of Pathological Gynecology and Human Reproduction, Department of Gynecology and Obstetrics, ABC School of Medicine, Santo Andre, Sao Paulo, Brazil
    Genet Test Mol Biomarkers 15:153-7. 2011
    The objective of this study was to analyze the distribution of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in idiopathic infertile Brazilian patients with nonobstructive azoospermia (NOA) or severe ..
  94. ncbi Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women
    Wang Hong Xu
    Department of Epidemiology, Shanghai Cancer Institute, PR China
    Cancer Epidemiol Biomarkers Prev 16:281-7. 2007
    Folate plays an important role in carcinogenesis. The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR), encoded by the MTHFR gene, is involved in this process...
  95. ncbi Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms in patients with small cell and non-small cell lung cancer
    Krzysztof Siemianowicz
    Department of Experimental and Clinical Biochemistry, Silesian Medical Academy, 40 752 Katowice, Poland
    Oncol Rep 10:1341-4. 2003
    Two mutations of methylenetetrahydrofolate reductase (MTHFR) gene (C677T and A1298C) may lead to a decreased activity of the enzyme. These mutations may change a risk of some cancers...
  96. ncbi [Association between genetic polymorphisms in methylentetrahydrofolate reductase and risk of lung cancer]
    Xue Mei Zhang
    Department of Etiology and Carcinogenesis, Cancer Institute, CAMS and PUMC, Beijing 100021, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 27:700-3. 2005
    To investigate the association between methylentetrahydrofolate reductase (MTHFR) polymorphisms and risk of lung cancer.
  97. ncbi Impact of methionine synthase gene and methylenetetrahydrofolate reductase gene polymorphisms on the risk of sudden sensorineural hearing loss
    Menachem Gross
    Department of Otolaryngology Head and Neck Surgery, Hadassah Hebrew University Hospital, Jerusalem, Israel
    Audiol Neurootol 11:287-93. 2006
    ..amplification, restriction enzyme digestion, and DNA fragment separation by electrophoresis: methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, and methionine synthase (MTR) A2756G polymorphisms...
  98. ncbi The methylenetetrahydrofolate reductase 677C-->T polymorphism and lung cancer risk in a Chinese population
    Yi Lin Jeng
    School of Public Health, National Defense Medical Center, No 161, Section 6 Min Chuan East Road, Taipei 114, Taiwan, Republic of China
    Anticancer Res 23:5149-52. 2003
    We examined the relationship of the MTHFR C677T genotype with the risk of lung cancer in a nested case-control study conducted in a cancer screening follow-up study in Taiwan.
  99. ncbi Interaction of methylenetetrahydrofolate reductase genotype and smoking habit in Taiwanese lung cancer patients
    Chiu Shong Liu
    Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan, R O C
    Cancer Genomics Proteomics 6:325-9. 2009
    The aim of this study was to evaluate the association and interaction of genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and environmental factors with lung cancer in Taiwan...
  100. pmc Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer
    Aditi Hazra
    Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA
    Cancer Causes Control 21:331-45. 2010
    ..However, the MTHFR 429 Ala/Ala variant (rs1801131) and the TCN2 259 Arg/Arg variant (rs1801198) were associated with CIMP-high status ..
  101. doi Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective study
    Rex L Jamison
    Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA
    Am J Kidney Dis 53:779-89. 2009
    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.

Research Grants16

  1. FOOD FOLATE FORTIFICATION EFFECT ON FOLATE STATUS
    Jacob Selhub; Fiscal Year: 2001
    ..2) Folic acid fortification at current levels will largely remove the methylenetetrahydrofolate reductase (MTHFR) C677T mutation as a risk factor for elevated homocysteine concentrations...
  2. Hyperhomocysteinemia in Alzheimer's Disease
    Ramon Diaz Arrastia; Fiscal Year: 2003
    ..measure vitamin levels in our patients, as well as determine the allelic frequency of the C677T polymorphism of MTHFR, a major genetic determinant of hyperhomocysteinemia...
  3. EPIDEMIOLOGY OF INFANT LEUKEMIA
    Julie Ross; Fiscal Year: 2007
    ..with MLL infant leukemia; b) obtain DNA from infant cases to investigate genetic polymorphisms (including NQ01, MTHFR, GSTM1, GSTT1, GSTPi, MPO, COMT, IGF1) associated with infant leukemia; c) obtain DNA from case mothers and ..
  4. Metabolism of Endothelial Dysfunction in Renal Disease
    Leticia Castillo; Fiscal Year: 2006
    ..Relevant enzymatic genotype (MTHFR and DDAH), will be correlated with the metabolic phenotype...
  5. GENETIC RISK FACTORS FOR HYPERHOMOCYSTEINEMIA
    ROY GRAVEL; Fiscal Year: 2006
    ..Extrapolating from the central role played by a polymorphism of MTHFR in this process, we set out to clone genes and identify polymorphisms to determine if other genes involved in the ..
  6. Homocysteine's role in the causation of presbyopia
    CHARLES PRINCE; Fiscal Year: 2002
    ..is expected), and with the distribution of a major genetic polymorphism (5,10-methylenetera-hydrofolate reductase (MTHFR), C677T, Ala > VaI) known to be associated with elevated tHcy...
  7. GENETIC HETEROGENEITY IN HOMOCYSTEINE REMETHYLATION
    Barry Shane; Fiscal Year: 2000
    ..the normal range will be ascertained for the human methionine synthase (MS), methylenetetra-hydrofolate reductase (MTHFR), cytosolic and mitochondrial serine hydroxymethyltransferase (cSHMT, mSHMT) and folypolyglutamate synthetase (..
  8. VASCULAR EFFECTS OF HOMOCYSTEINE IN HUMANS
    WILLIAM HAYNES; Fiscal Year: 2005
    ..protein and folate intakes on plasma homocysteine and endothelial function, particularly in subjects with genetic (MTHFR mutation) or renal (transplant recipients) predisposition to hyperhomocysteinemia...
  9. Prevalence of environmental and genetic risk factors for gastric cancer in a popu
    LOVELL ALLAN JONES; Fiscal Year: 2011
    ..We will genotype the children for polymorphisms in the methylenetetrahydrofolate reductase (MTHFR gene at position 677C>T since variability in this gene can critically influence the ..
  10. GENETIC EFFECTS-FOLATE-DEPENDENT ONE-CARBON METABOLISM
    JESSE GREGORY; Fiscal Year: 2004
    ..A common mutation of methylene-tetrahydrofolate reductase (MTHFR), known as the "thermolabile" or C677T mutant, has been associated with elevations in plasma I-Icy (especially in ..
  11. Risk Factors for TEL-AML Fusion Genes and Childhood Acute Lymphoblastic Leukemia
    Sameera Ezzat; Fiscal Year: 2009
    ..risk factors, and by genetic polymorphisms in maternal genes that affect folate metabolism, such as methylenetetrahydrofolate reductase (MTHFR), and genes that prevent oxidative stress such as NAD(P)H quinone oxidoreductase (NQO1)...
  12. FOLATE PATHWAY POLYMORPHISMS AND PANCREATIC CANCER RISK
    Michael Goggins; Fiscal Year: 2002
    ..that common and functionally significant polymorphisms in the methylene tetrahydrofolate reductase gene (MTHFR) and methionine synthase are associated with a reduced risk of several cancers...
  13. DNA METHYLATION AND COLORECTAL POLYPS
    Robert Haile; Fiscal Year: 2003
    ..assess modification of the folic acid-methylation relationship by a gene, methylene-tetrahydrofolate reductase (MTHFR), that is involved in folic acid metabolism...
  14. GENE-BASED MANAGEMENT FOR HOMOCYSTEINEMIA
    Vincent Stanton; Fiscal Year: 1999
    DESCRIPTION: (Adapted from the investigator's abstract) Genetic variation in the gene methylenetetrahydrofolate reductase (MTHFR) is associated with a mild elevation of homocysteine and with cardiovascular disease...
  15. RANDOMIZED TRIAL OF FOLATE AND COLORECTAL ADENOMA
    Edward Giovannucci; Fiscal Year: 2003
    ..propose to measure additional folate- related factors (plasma homocysteine, methylene-tetrahydrofolate reductase (MTHFR) genotype) and insulin-like growth factor (IGF) parameters (insulin-like growth factor-1 and insulin-like growth ..
  16. Novel Risk Factors For Hypertension
    John P Forman; Fiscal Year: 2010
    ..Finally, we hypothesize that genetic polymorphisms in MTHFR and eNOS will significantly modify the relation between folate and vitamin B12 and the risk of incident HTN, and ..