Genomes and Genes
Gene Symbol: MTHFR
Description: methylenetetrahydrofolate reductase
Alias: methylenetetrahydrofolate reductase, 5,10-methylenetetrahydrofolate reductase (NADPH), methylenetetrahydrofolate reductase (NAD(P)H)
Publications392 found, 100 shown here
- A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductaseP Frosst
Nat Genet 10:111-3. 1995..5, 10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the reduction of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the ..
- 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. 1998Recently, 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)...
- A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activityI Weisberg
Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, H3Z 2Z3, Canada
Mol Genet Metab 64:169-72. 1998A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with reduced activity...
- Dietary vitamin B6 intake and the risk of colorectal cancerEvropi 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 (..
- Association of MTHFR, MTR, MTRR, RFC1, and DHFR gene polymorphisms with susceptibility to sporadic colon cancerMladen 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 ..
- Association of the functional polymorphism C677T in the methylenetetrahydrofolate reductase gene with colorectal, thyroid, breast, ovarian, and cervical cancersVidudala V T S Prasad
Research and Development, Basavatarakam Indo American Cancer Hospital and Research Institute, Hyderabad, India
Onkologie 34:422-6. 2011Polymorphisms of the gene encoding methylenetetrahydrofolate reductase (MTHFR) have been studied widely in various cancers, excluding thyroid cancer...
- A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate statusSimonetta 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 ..
- Methylenetetrahydrofolate reductase polymorphisms and breast cancer risk: a meta-analysis from 41 studies with 16,480 cases and 22,388 controlsXiaowei Qi
Breast Disease Center, Southwest Hospital, Third Military Medical University, Gaotanyan Street 29, Chongqing, 400038, China
Breast Cancer Res Treat 123:499-506. 2010The association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and breast cancer risk has been widely reported, but results were inconsistent and underpowered...
- Gene polymorphisms involved in folate and methionine metabolism and increased risk of sporadic colorectal adenocarcinomaJosé 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. 2011This 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 ..
- Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysisSimon 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,..
- MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysisMariska 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 ..
- Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinomaCarmen 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. 2007Evidence 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...
- Meta- and pooled analyses of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and colorectal cancer: a HuGE-GSEC reviewE 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...
- Folate and choline metabolism gene variants and development of uterine cervical carcinomaAdrianna 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...
- A meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in childrenJingrong Yan
Department of Pediatrics, Texas Children s Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA
Pediatr Blood Cancer 58:513-8. 2012b>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 ..
- A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancerJ Chen
Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts 02115, USA
Cancer Res 56:4862-4. 1996We 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...
- Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysisSusanna 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 ..
- The methylenetetrahydrofolate reductase 677C-->T polymorphism as a modulator of a B vitamin network with major effects on homocysteine metabolismSteinar Hustad
The Hormone Laboratory, Haukeland University Hospital, Bergen, Norway
Am J Hum Genet 80:846-55. 2007Folates 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...
- Genetic variants of methyl metabolizing enzymes and epigenetic regulators: associations with promoter CpG island hypermethylation in colorectal cancerStefan 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 ..
- Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793APeter 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 ..
- Methylenetetrahydrofolate reductase 677 C-->T polymorphism and risk of proximal colon cancer in north ItalyGiuseppe 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, ..
- Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defectsAnne Parle-McDermott
Department of Biochemistry, Trinity College Dublin, Dublin, Ireland
J Hum Genet 48:190-3. 2003The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs)...
- Gene-gene interactions in the folate metabolic pathway influence the risk for acute lymphoblastic leukemia in childrenBohanec 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 (..
- Association of the 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) polymorphisms in Korean patients with adult acute lymphoblastic leukemiaDoyeun Oh
Institute for Clinical Research, 2Department of Internal Medicine, Pochon CHA University, Seongnam, South Korea
Anticancer Res 27:3419-24. 2007b>Methylenetetrahydrofolate reductase (MTHFR) plays a central role in converting folate to methyl donor for DNA methylation...
- Gene polymorphisms and male infertility--a meta-analysis and literature reviewFrank 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...
- Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian populationMohammad Shekari
Department of Biotechnology, Punjab University, Chandigarh, India
Arch Gynecol Obstet 278:517-24. 2008Cervical 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...
- Polymorphisms in folate-related genes and risk of pediatric acute lymphoblastic leukemiaRobert 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), ..
- Gene polymorphisms in TYMS, MTHFR, p53 and MDR1 as risk factors for breast cancer: a case-control studyL 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)...
- Genetic variation in the folate metabolic pathway and risk of childhood leukemiaTracy 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 ..
- MTHFR gene polymorphism and its relationship with plasma homocysteine and folate in a North Indian populationUsha 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...
- 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 B12Seo 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. 2011We evaluated associations between folate, vitamin B12, and the methylenetetrahydrofolate reductase (MTHFR) gene, and risk of cervical intraepithelial neoplasia (CIN) and cervical cancer.
- Maternal one-carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in IndiaKoumudi 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...
- An updated meta-analysis of methylenetetrahydrofolate reductase gene 677C/T polymorphism with diabetic nephropathy and diabetic retinopathyWenQuan 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. 2012Studies investigating the association of methylenetetrahydrofolate reductase (MTHFR) gene 677C/T polymorphism with diabetic nephropathy and diabetic retinopathy have so far reported inconclusive results...
- Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysisOuxi Shen
The Center for Disease Control and Prevention of Suzhou Industrial Park, Suzhou, China
Ann Hum Genet 76:25-32. 2012Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive...
- Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE reviewSimon 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 ..
- Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of dietKaren 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 ..
- Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, ChinaMin 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)...
- Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genesKatrina 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...
- Folate-related genes and the risk of tobacco-related cancers in Central EuropeRayjean 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) ..
- 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 ..
- A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancerBastiaan 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 ..
- Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer StudyGuang Yin
Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812 8582
Cancer Sci 95:908-13. 2004b>Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme regulating folate metabolism, which affects DNA synthesis and methylation...
- One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in JapanKeitaro 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 ..
- MTHFR gene C677T and A1298C polymorphisms and homocysteine levels in primary open angle and primary closed angle glaucomaShazia Micheal
Department of Biosciences, COMSATS Institute of Information Technology, Islamabad 44000, Pakistan
Mol Vis 15:2268-78. 2009To 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 ..
- 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. 1998b>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...
- A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instabilityB Shannon
Department of Surgery, University of Western Australia, Nedlands 6009, Australia
Gut 50:520-4. 2002The enzyme methylenetetrahydrofolate reductase (MTHFR) catalyses the formation of folate intermediates that are vital to methylation reactions...
- Blood pressure and hypertension are associated with 7 loci in the Japanese populationFumihiko Takeuchi
Department of Gene Diagnostics and Therapeutics, Research Institute, International Medical Center of Japan, Tokyo, Japan
Circulation 121:2302-9. 2010....
- MTHFR 677C --> T genotype disrupts prefrontal function in schizophrenia through an interaction with COMT 158Val --> MetJoshua 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 ..
- MTHFR 677 C>T Polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosisCharalambos 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...
- A low prevalence of the C677T mutation in the methylenetetrahydrofolate reductase gene in Asian IndiansM Mukherjee
Cumballa Hill Hospital and Heart Institute, Bombay, India
Clin Genet 61:155-9. 2002The 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-..
- 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 cohortArve 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...
- Nutritional and genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects: a multicenter case-control studyMirande 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...
- 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 womenEnbo 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...
- Association of polymorphisms MTHFR C677T and A1298C with risk of colorectal cancer, genetic and epigenetic characteristic of tumors, and response to chemotherapyAntonia M Fernández-Peralta
Unidad de Genetica, Departamento de Biologia, Universidad Autonoma de Madrid, Cantoblanco, 28049 Madrid, Spain
Int J Colorectal Dis 25:141-51. 2010The 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...
- Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifidaCarla 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...
- Correlation of polymorphisms to coagulation and biochemical risk factors for cardiovascular diseasesA 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)...
- 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defectsGary 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...
- The effect of methylenetetrahydrofolate reductase polymorphism C677T on cervical cancer in Korean womenJae 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. 2004b>Methylenetetrahydrofolate reductase (MTHFR) gene is associated with DNA hypomethylation, an established hallmark of human cancer cells...
- 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 studyA 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.
- The methylenetetrahydrofolate reductase (MTHFR) gene in colorectal cancer: role in tumor development and significance of allelic loss in tumor progressionB M Ryan
Department of Gastroenterology and Clinical Medicine, St James s Hospital and Trinity College, Dublin, Ireland
Int J Gastrointest Cancer 30:105-11. 2001Folate 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 ..
- GST M1/T1 and MTHFR polymorphisms as risk factors for hypertensionCláudia Marinho
Genetics Laboratory, Centre of Metabolism and Endocrinology, Lisbon Medical School, University of Lisbon, Portugal
Biochem Biophys Res Commun 353:344-50. 2007The aim of this study is to investigate GSTM1, GSTT1 and MTHFR genetic polymorphisms and its relation with total plasma glutathione (tGSH) levels in hypertension...
- Polymorphisms in one-carbon metabolism and trans-sulfuration pathway genes and susceptibility to bladder cancerLee 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...
- Methylenetetrahydrofolate reductase (MTHFR) C677T and thymidylate synthase promoter (TSER) polymorphisms in Indonesian children with and without leukemiaElisa 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...
- A study on thrombophilic factors in Italian Behcet's patientsPaola 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...
- Evaluation of MTHFR C677T polymorphism in ischemic and hemorrhagic stroke patients. A case-control study in a Northern Indian populationB I Somarajan
Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India
J Neurol Sci 304:67-70. 2011The 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.
- MTHFR 677C>T and 1298A>C polymorphisms and male infertility risk: a meta-analysisBingbing 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. 2012Epidemiological studies have evaluated the association between MTHFR 677C>T and 1298A>C polymorphisms and risk of male infertility...
- Characterization of MTHFR, GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes in childhood acute leukemiaGunay 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. 2003The 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 ..
- Homocysteine, MTHFR and risk of venous thrombosis: a meta-analysis of published epidemiological studiesM 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...
- Hyperhomocysteinemia, methylenetetrahydrofolate reductase 677TT genotype, and the risk for schizophrenia: a Dutch population based case-control studyJan 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...
- Sex differences in risk of lung cancer associated with methylene-tetrahydrofolate reductase polymorphismsQiuling 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. 2005b>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...
- The prognostic significance of genetic polymorphisms (Methylenetetrahydrofolate Reductase C677T, Methionine Synthase A2756G, Thymidilate Synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinomaM 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 ..
- [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.
- 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. 2006b>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...
- Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort studyP 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...
- Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertilityHan 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. 2006Three 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...
- Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolismAse 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...
- Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophreniaJoshua 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.
- Folate pathway genetic polymorphisms are related to attention disorders in childhood leukemia survivorsKevin R Krull
Learning Support Center for Child Psychology, Texas Children s Hospital, Houston, TX, USA
J Pediatr 152:101-5. 2008To 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) ..
- Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm countsCelia 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...
- Gene polymorphisms and risk of adult early-onset ischemic stroke: A meta-analysisXiao 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...
- MTHFR C677T and postmenopausal breast cancer risk by intakes of one-carbon metabolism nutrients: a nested case-control studySonia S Maruti
Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109 1024 USA
Breast Cancer Res 11:R91. 2009The C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene has been hypothesized to increase breast cancer risk...
- Methylenetetrahydrofolate reductase C677T polymorphism in patients with gastric and colorectal cancer in a Korean populationLian Hua Cui
Department of Preventive Medicine, Chonnam National University Medical School, Gwangju, South Korea
BMC Cancer 10:236. 2010This 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.
- Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm countsDebbie Montjean
Advanced Technology Laboratory, La Verriere, Paris, France
Fertil Steril 95:635-40. 2011To investigate the relationship between MTHFR and MTRR genetic variants with respect to both blood plasma homocysteine concentration and sperm counts.
- MTHFR A1298C polymorphism and idiopathic male infertilityK 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 ..
- Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian menMarcello 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. 2011The 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 ..
- Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms in patients with small cell and non-small cell lung cancerKrzysztof Siemianowicz
Department of Experimental and Clinical Biochemistry, Silesian Medical Academy, 40 752 Katowice, Poland
Oncol Rep 10:1341-4. 2003Two 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...
- The methylenetetrahydrofolate reductase 677C-->T polymorphism and lung cancer risk in a Chinese populationYi 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. 2003We 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.
- [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. 2005To investigate the association between methylentetrahydrofolate reductase (MTHFR) polymorphisms and risk of lung cancer.
- Impact of methionine synthase gene and methylenetetrahydrofolate reductase gene polymorphisms on the risk of sudden sensorineural hearing lossMenachem 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...
- Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese womenWang Hong Xu
Department of Epidemiology, Shanghai Cancer Institute, PR China
Cancer Epidemiol Biomarkers Prev 16:281-7. 2007Folate plays an important role in carcinogenesis. The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR), encoded by the MTHFR gene, is involved in this process...
- Pharmacogenetic profiling in patients with advanced colorectal cancer treated with first-line FOLFIRI chemotherapyA Ruzzo
Institute of Biochemistry G Fornaini, University of Urbino, Urbino, Italy
Pharmacogenomics J 8:278-88. 2008..enrolled patients were used for genotyping polymorphisms in thymidylate synthase (TS), methylenetetrahydrofolate reductase (MTHFR), excision repair cross-complementation group-1 (ERCC 1) xeroderma pigmentosum group-D (XPD),..
- Methylenetetrahydrofolate reductase gene polymorphisms and lung cancer: a meta-analysisRenfang Mao
Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, China
J Hum Genet 53:340-8. 2008So far, case-control studies on the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and lung cancer provide controversial or inconclusive results...
- Methylenetetrahydrofolate reductase C677T and glutathione S-transferase P1 A313G are associated with a reduced risk of preeclampsia in Maya-Mestizo womenPatricia Canto
Medical Research Unit in Developmental Biology, National Medical Center XXI Century, Instituto Mexicano del Seguro Social, Mexico, DF, Mexico
Hypertens Res 31:1015-9. 2008..The aim of this study was to investigate whether or not the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T and glutathione S-transferase P1 (GSTP1) A313G polymorphisms are associated with ..
- Meta-analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and risk of head and neck and lung cancerStefania Boccia
Genetic Epidemiology and Molecular Biology Unit, Institute of Hygiene, Universita Cattolica del Sacro Cuore, L go F Vito 1, 00168 Rome, Italy
Cancer Lett 273:55-61. 2009Authors report the results of four meta-analyses of studies that examined the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and head and neck cancer (nine studies, 2076 cases and 4834 ..
- Effect of the MTHFR C677T and A1298C polymorphisms on survival in patients with advanced CKD and ESRD: a prospective studyRex L Jamison
Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA
Am J Kidney Dis 53:779-89. 2009Abnormalities in the gene regulating methylenetetrahydrofolate reductase (MTHFR) are associated with increased homocysteine levels and increased mortality in normal and chronic kidney disease (CKD) populations.
- Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancerAditi 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 ..
- Interaction of methylenetetrahydrofolate reductase genotype and smoking habit in Taiwanese lung cancer patientsChiu Shong Liu
Department of Family Medicine, China Medical University Hospital, Taichung, Taiwan, R O C
Cancer Genomics Proteomics 6:325-9. 2009The 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...
- Worldwide distribution of a common methylenetetrahydrofolate reductase mutationJ A Schneider
Am J Hum Genet 62:1258-60. 1998
- Associations of MTHFR DNMT3b 4977 bp deletion in mtDNA and GSTM1 deletion, and aberrant CpG island hypermethylation of GSTM1 in non-obstructive infertility in Indian menVarinderpal S Dhillon
CSIRO Human Nutrition, Adelaide, Australia
Mol Hum Reprod 13:213-22. 2007Methylenetetrahydrofolate (MTHFR) and DNMT3b play imperative roles in DNA synthesis and de novo methylation. GSTM1 is involved in detoxification of carcinogens...
- Polymorphism of apoprotein E (APOE), methylenetetrahydrofolate reductase (MTHFR) and paraoxonase (PON1) genes in patients with cerebrovascular diseaseE Topic
Clinical Institute of Chemistry, School of Medicine, University of Zagreb and Sestre milosrdnice University Hospital, Croatia
Clin Chem Lab Med 39:346-50. 2001Although controversial, data on the genetic polymorphism of apoprotein E (APOE), methylenetetrahydrofolate (MTHFR) and paraoxonase (PON1) genes implicate their role in the development of cerebrovascular disease...
- The methylenetetrahydrofolate reductase C677T mutation induces cell-specific changes in genomic DNA methylation and uracil misincorporation: a possible molecular basis for the site-specific cancer risk modificationKyoung Jin Sohn
Department of Medicine, University of Toronto, St Michael s Hospital, Toronto, Ontario, Canada
Int J Cancer 124:1999-2005. 2009The C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with a decreased risk of colon cancer although it may increase the risk of breast cancer...
- FOOD FOLATE FORTIFICATION EFFECT ON FOLATE STATUSJacob 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...
- Hyperhomocysteinemia in Alzheimer's DiseaseRamon 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...
- FOLATE PATHWAY POLYMORPHISMS AND PANCREATIC CANCER RISKMichael 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...
- Homocysteine's role in the causation of presbyopiaCHARLES 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...
- DNA METHYLATION AND COLORECTAL POLYPSRobert 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...
- Prevalence of environmental and genetic risk factors for gastric cancer in a popuLOVELL 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 ..
- Novel Risk Factors For HypertensionJohn 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 ..
- Metabolism of Endothelial Dysfunction in Renal DiseaseLeticia Castillo; Fiscal Year: 2006..Relevant enzymatic genotype (MTHFR and DDAH), will be correlated with the metabolic phenotype...
- Pharmacogenetics of Tamoxifen and Chemotherapies and Risk of Contralateral BreastJane C Figueiredo; Fiscal Year: 2010..e., CYP3A5, MDR1, GSTM1, GSTP1, GSTT1) and antimetabolites (i.e., DHFR, TS, MTHFR) ...
- Sylvia B Smith; Fiscal Year: 2016..HHcy is due to genetic defects involving cystathionine synthase (CBS), methylenetetrahydrofolate reductase (MTHFR) or methionine synthase as well as vitamin deficiencies (folate/B12/B6)...
- GENETIC HETEROGENEITY IN HOMOCYSTEINE REMETHYLATIONBarry 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 (..
- GENETIC RISK FACTORS FOR HYPERHOMOCYSTEINEMIAROY 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 ..
- VASCULAR EFFECTS OF HOMOCYSTEINE IN HUMANSWILLIAM 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...
- Perioperative pharmacogenetics: Nitrous oxide and anesthetic outcomesPeter Nagele; Fiscal Year: 2013..Chronic homocysteinemia has been associated with adverse cardiac events.The MTHFR 677 C>T polymorphism is the most important genetic determinant for elevated homocysteine and is also associated ..
- Neetu Tyagi; Fiscal Year: 2016..of methionine by S-adenosine- homocysteine hydrolase (SAHH) and a decrease in methyltetrahydrofolate reductase (MTHFR) and cystathionine-y-lyase (CSE, an enzyme responsible for Hcy metabolism to H2S, a most potent vasodilator, ..
- Naftali Raz; Fiscal Year: 2014..C-reactive protein), elevated insulin, and genetic variants associated with vascular and metabolic risk (MTHFR C677T, IL1-p C511T, BDNF Val66Met, ACE l/D, ApoEpound4, diabetes risk genes, and polymorphisms related to specific ..
- Patrick J Stover; Fiscal Year: 2016..3) to elucidate the contribution of cSHMT SUMOylation to NTD frequency. 4) to determine if cSHMT and MTHFR interact to increase risk for folate-responsive NTDs...
- GENETIC EFFECTS-FOLATE-DEPENDENT ONE-CARBON METABOLISMJESSE 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 ..
- Contributions of MTHFR Genotype to Frontal Lobe Dysfunction in SchizophreniaJOSHUA LAWRENCE ROFFMAN; Fiscal Year: 2013..is an application for an NIMH Patient Oriented Research Career Development Award (K23) entitled "Contributions of MTHFR Genotype to Frontal Lobe Dysfunction in Schizophrenia...
- Vicki L Ellingrod; Fiscal Year: 2016..Variation within the genes facilitating folate metabolism (methylenetetrahydrofolate reductase (MTHFR) and catechol-o-methyl transferase (COMT)) modulate these improvements...
- The MTHFR C677T SNP exerts bipolar effects on colorectal cancer risk through theJoel B Mason; Fiscal Year: 2010..the past decade it has become abundantly clear that the highly prevalent C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene imparts substantial protection against the risk of developing colorectal cancer, and ..
- Gene-Environmental Risk Assessment and CRC ScreeningDavid S Weinberg; Fiscal Year: 2011..to usual care (DC) or to GERA feedback based on an assessment of the participant's polymorphic version of the MTHFR gene and serum folate level (environment). Epidemiological data support links between MTHFR, folate and CRC...
- RANDOMIZED TRIAL OF FOLATE AND COLORECTAL ADENOMAEdward 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 ..
- EPIDEMIOLOGY OF INFANT LEUKEMIAJulie 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 ..
- 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)...
- Genetic Susceptibilty to Cardiovascular Effects of Arsenic ExposureYu Chen; Fiscal Year: 2013..effects of As exposure differ by polymorphisms in genes related to As methylation (GSTM1, GSTT1, GSTO1, GSTP1, MTHFR, and AS3MT genes) and genes related to oxidative stress (NOS3, SOD2, and CYBA) and inflammation/endothelial ..
- Determinants of Venous Thromboembolism in Older PeopleRobert J Glynn; Fiscal Year: 2010..of genetic determinants of VTE, including factor V Leiden, the prothrombin mutation and polymorphisms in the MTHFR gene with age;whether genetic variants in adhesion molecules influence risk of VTE;and the impact of statins and ..
- GENETIC CONTROL OF HOMOCYSTEINE METABOLISM IN MICEJoseph Nadeau; Fiscal Year: 2000..In humans, decreased activity of methylene tetrahydrofolate reductase (MTHFR) contributes to elevated Hcy levels because its product is a cofactor for conversion of Hcy to Methionine...
- Epigenetic effects of chronic alcohol consumption on colonic mucosaSANG WOON CHOI; Fiscal Year: 2007..enhances colorectal carcinogenesis especially in individuals with folate depletion and/or methylenetetrahydrofolate reductase (MTHFR) homozygous variant genotype, indicating that the co-carcinogenic effect of alcohol is ..
- THROMBOTIC, INFLAMMATORY & GENE MARKERS OF CVD IN WOMENPaul Ridker; Fiscal Year: 2002..They will also explore common genetic polymorphisms in the tPA, PAI-1, MTHFR, thrombomodulin, prothrombin, and factor V genes so that both inherited and environmental determinants of coronary ..
- Genetic Risk Factors for CVA in Children with Hb SSAbdullah Kutlar; Fiscal Year: 2004..The genetic polymorphisms to be studied include MTHFR (methylenetetrahydrofolate reductase) variant (C677T mutation), ACE (angiotensin converting enzyme), ID (insertion/deletion) ..
- AN ASSAY FOR GENETIC MUTATIONS CAUSING HYPERCOAGULATIONSUDHAKAR MARLA; Fiscal Year: 2000..efficient, simultaneous assay for determination of Factor V Leiden gene, the G20210 prothrombin gene, and C677T MTHFR gene mutations. Ultimately, development of a test that does not require PCR amplication will be examined...
- Molecular Diagnostic Assays for Genetic DiseasesHashem Akhavan Tafti; Fiscal Year: 2004..in Phase I to develop two additional commonly used mutation tests related to clotting disorders, Factor II and MTHFR. As a final goal we will devise a multiplex test format for screening blood samples for each of these tests ..
- AN ASSAY FOR GENETIC MUTATIONS CAUSING HYPERCOAGULATIONSUDHAKAR MARLA; Fiscal Year: 2003..in three genes involved in hypercoagulation disorders [factor V (1691 G->A), prothrombrin (20210 G->A) and MTHFR (677 C->T)]...
- EPIGENETIC CHANGES AND VITAMIN STATUS IN BREAST CANCERGARY JOHANNING; Fiscal Year: 2001..relationship between tissue, circulating and dietary folate, vitamin B12 and vitamin C status, DNA methylation and MTHFR polymorphism in these breast cancer patients and controls...
- Genetic contributions to deficits in adaptive function in schizophreniaTatiana Sitnikova; Fiscal Year: 2013..The overall goal of this project is to examine contributions of COMT and MTHFR genes, known to influence prefrontal function, to these abnormalities...
- Pharmacogenetics of Methotrexate Therapy in ArthritisALEXANDER WHITEHEAD; Fiscal Year: 2006..b>Methylenetetrahydrofolate reductase (MTHFR) is pivotal in controlling the distribution of folate derivatives between the two main ..
- MOLECULAR CORRELATES OF METHOTREXATE IN CHILDHOOD ALLLarry Matherly; Fiscal Year: 2007..of (d) the high frequency C677T single nucleotide polymorphism in the methylene tetrahydrofolate reductase (MTHFR) gene and (e) the family of multidrug resistance proteins (MRPs) to chemotherapy response and resistance in ..
- NUTRITIONAL AND BIOCHEMICAL/GENETIC MARKERS OF CANCERJing Ma; Fiscal Year: 2007..contributions in the field of insulin-like growth factor (IGF)-I and its binding protein (IGFBP)-3, folate and the MTHFR polymorphism, vitamin D metabolites and vitamin D receptor (VDR) polymorphisms and carcinogenesis...
- GENETIC RISK FACTORS OF PREECLAMPSIA AMONG PERUVIAN WOMEMichelle Williams; Fiscal Year: 2002..of preeclampsia including polymorphisms for the tumor necrosis factor-alpha (TNF-alpha) gene, the methylenetetrahydrofolate reductase (MTHFR) gene, and the angiotensinogen (AGT) gene will also be assessed...
- Cervical Cancer Cofactors and HPV DNA IntegrationWayne Lancaster; Fiscal Year: 2005..These include smoking, methylenetetrahydrofolate reductase (MTHFR) polymorphism, HPV-16 variants, loss of fragile histidine triad (FHIT) gene expression and ..
- Folate, Vitamin D and Calcium in Colorectal CancerRobert Haile; Fiscal Year: 2009..list of genes of interest includes: serine hydroxymethyltransferase (SHMT1), mehylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), thymidylate synthase (TYMS or TS), S-..
- NUTRIENT BIOMARKERS, GENES AND OROFACIAL CLEFTSRonald Munger; Fiscal Year: 2004..B-6 and folic acid levels of mothers are independently associated with increased risks of clefting and that the MTHFR C677T mutation is associated with a reduced risk of clefting...
- Alcohol and Colorectal Cancer: The Influence of Inherited and Nutritional FactorsEunyoung Cho; Fiscal Year: 2009..Other susceptible populations include those with methylene-tetrahydrofolate reductase (MTHFR) 677 variant genotype and those with low intake of other nutrients involved in one-carbon metabolism, including ..
- Diet and DNA methylation in colon mucosa and adenomasJean Pierre Issa; Fiscal Year: 2007..2) dietary factors influence the prevalence of CIMP in colorectal tumors and (3) Constitutive polymorphisms (MTHFR) modify the interactions between diet and hypermethylation in the colon...
- Diet, gene-diet interactions and risk of Parkinson'sHonglei Chen; Fiscal Year: 2004..he will evaluate the associations of PD risk with common polymorphisms of NAT2, CYP1A2, ADH2, ADH3, ADH4, and MTHFR. He also will, for the first time, explore gene-diet interactions in PD etiology, including NAT2, CYP1A2 and ..
- Genetics of Prostate Cancer Risk & AgressivenessGraham Casey; Fiscal Year: 2007..insulin-like growth factor signaling (IGFBP-3), 3) folate metabolism (5,10- Methylene-tetrahydrofolate reductase (MTHFR) and Methionine Synthase (MTR)), and 4) steroid hormone metabolism (CYP3A7)...
- Folate Deficiency, Metabolism & Sporadic RetinoblastomaManuela Orjuela; Fiscal Year: 2006..The C677T and A1298C mutations in the methylene tetrahydrofolate reductase (MTHFR) gene and the A66G mutation in the methionine synthetase (MTRR) gene are common mutations in folate metabolizing ..
- Tuning-Up Human MetabolismBruce Ames; Fiscal Year: 2005..g. homocysteine accumulation in MTHFR: riboflavin; alcohol intolerance in half of Asians: niacin...
- MTHFR POLYMORPHISMS IN PANCREATIC CANCER IN SF BAY AREAELIZABETH HOLLY; Fiscal Year: 2002..The methylenetetrahydrofolate reductase (MTHFR) enzyme is critical in the regulation of folate and methionine metabolism...
- The Molecular Genetic Basis of Cardiac DefectsKatharine Wenstrom; Fiscal Year: 2003..status strongly influenced by folic acid nutriture and the enzyme methylene tetrahydrafolate reductase (MTHFR) hypomethylation is possible if an inadequate amount of folate reaches the multiplying cells or the fetus inherits ..
- Folate in SchizophreniaDonald C Goff; Fiscal Year: 2010..in patients with schizophrenia compared to controls and an association with the common methylenetetrahydrofolate reductase (MTHFR) C677T mutation which results in decreased folate metabolic activity...
- Genetic Profiles for Perioperative ApplicationsROBERT KWIATKOWSKI; Fiscal Year: 2001..to neuromuscular blocking agents (BChE, RYR1, CACNA1S), opioids and antiarrythmics (CYP2D6), nitrous oxide (MTHFR, MTR, MTRR, CBS), volatile anesthetics (RYR1, CACNA1s), and the risk and severity of sepsis (TNF-alpha, TNF-beta), ..
- Methylation and Oxidation in Breast Cancer EpidemiologyJo Freudenheim; Fiscal Year: 2005..investigate genetic variation in enzymes important in one-carbon metabolism (methylene tetrahydrofolate reductase (MTHFR), methionine synthase (MS) and cystathione B-synthase (CBS)) in relation to risk and to investigate interaction of ..
- Micronutrients, stroke and cognition in agingIrwin Rosenberg; Fiscal Year: 2006..as diagnosed depression, anxiety, hypertension, diabetes, atrial fibrillation, medications, APOE, saturated fat intake, and mutations of MTHFR will be measured and included in analyses as covariates and effect modifiers.
- GENE-BASED MANAGEMENT FOR HOMOCYSTEINEMIAVincent Stanton; Fiscal Year: 1999DESCRIPTION: (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...
- MINORITY PREDOCTORAL FELLOWSHIP PROGRAMYVETTE MARTIN; Fiscal Year: 2006unreadable] DESCRIPTION (provided by applicant): 10-Methylenetetrahydrofolate reductase (MTHFR) is an enzyme in the folate metabolic pathway that contributes to DNA, protein and small molecule methylation...
- Drug Metabolism, DNA Repair & Second CancersDebra Friedman; Fiscal Year: 2003..The genes chosen for study include methylenetetrahydrofolate reductase (MTHFR), Glutathione-S-transferase (GST), GSTT1, GSTM1, GSTM3, GSTP1, Cytochrome P-450 (CYP) CYP2C9,..
- Folic Acid Intake and Risk of HypertensionJohn Forman; Fiscal Year: 2004..In addition, certain polymorphisms in endothelial nitric oxide synthase (eNOS) and methylenetetrahydrofolate reductase (MTHFR) genes may be associated with endothelial dysfunction and hypertension...
- GENETIC DIFFERENCES IN SUSCEPTIBILITY FOR LUNG CANCERChandrika Piyathilake; Fiscal Year: 2000..We will focus our study on a genetic polymorphism (methylene tetrahydrofolate reductase [MTHFR]) that might affect the status, most likely, of a locally deficient concentration of a specific vitamin (folate) ..
- Pathologic Markers of Genetic Damage and Disease in IBDMelvin Heyman; Fiscal Year: 2005..Pediatric Crohn's Disease Activity Index [PCDAI]) or folate deficiency; and (3) the correlation of methylenetetrahydrofolate reductase (MTHFR) polymorphisms with a) the risk of CD, b) cytogenetic damage, and c) folate, vitamin B12, ..
- Molecular Epidemiology of Colorectal AdenomasRobert Haile; Fiscal Year: 2005..Specifically, we propose to study MTHFR, MTRR, ADH3, which may affect folate metabolism, and XRCC1, XRCC3, OGG1, and MGMT, which may be involved in DNA ..