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Polymorphisms in Genes Involved in Folate Metabolism and Colorectal Neoplasia: A HuGE Review

Data up to Jan 2025

Published2004
Citations449
References175

Total Citations Per Year

Abstract

References (175)

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Polymorphisms of the Repeated Sequences in the Enhancer Region of the Thymidylate Synthase Gene Promoter May Predict Downstaging After Preoperative Chemoradiation in Rectal Cancer

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A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer

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5,10-Methylenetetrahydrofolate Reductase Polymorphisms and Leukemia Risk: A HuGE Minireview

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2002 • 284 citations

Nutritional factors in colorectal cancer risk: A case‐control study in majorca

1991 • 281 citations

The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations

2001 • 267 citations

Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations

1999 • 261 citations

Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error?

2002 • 260 citations

A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk.

1999 • 259 citations

Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylate synthase gene.

2000 • 259 citations

A Common Mutation A1298C in Human Methylenetetrahydrofolate Reductase Gene: Association with Plasma Total Homocysteine and Folate Concentrations

1999 • 258 citations

A polymorphism in the enhancer region of the thymidylate synthase promoter influences the survival of colorectal cancer patients treated with 5-fluorouracil

2001 • 255 citations

Colorectal adenomas and the C677T MTHFR polymorphism: evidence for gene-environment interaction?

1999 • 236 citations

Riboflavin as a Determinant of Plasma Total Homocysteine: Effect Modification by the Methylenetetrahydrofolate Reductase C677T Polymorphism

2000 • 235 citations

Polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and risk of adult acute lymphocytic leukemia

2002 • 233 citations

Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population.

2001 • 223 citations

Serum folate, homocysteine and colorectal cancer risk in women: a nested case–control study

1999 • 220 citations

Selected micronutrient intake and the risk of colorectal cancer

1994 • 217 citations

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1988 • 214 citations

Methylenetetrahydrofolate Reductase C677T Mutation, Plasma Homocysteine, and Folate in Subjects From Northern Italy With or Without Angiographically Documented Severe Coronary Atherosclerotic Disease: Evidence for an Important Genetic-Environmental Interaction

1998 • 213 citations

Ethnic Variation in the Thymidylate Synthase Enhancer Region Polymorphism among Caucasian and Asian Populations

1999 • 212 citations

Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma

2001 • 207 citations

Alcohol and Nutrients in Relation to Colon Cancer in Middle-aged Adults

1993 • 205 citations

Polymorphism in the thymidylate synthase promoter enhancer region in colorectal cancer

2001 • 200 citations

Colorectal cancer and folate status: a nested case-control study among male smokers.

1996 • 199 citations

Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease

1997 • 195 citations

MTRR and MTHFR polymorphism: Link to Down syndrome?

2001 • 192 citations

Folate Intake, Alcohol Consumption, Cigarette Smoking, and Risk of Colorectal Adenomas

1998 • 185 citations

B-vitamin intake, metabolic genes, and colorectal cancer risk (United States).

2002 • 181 citations

Diet and colorectal adenomas: A case‐control study in majorca

1993 • 179 citations

Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas.

2002 • 178 citations

Investigation of the Prognostic and Predictive Value of Thymidylate Synthase, p53, and Ki-67 in Patients With Locally Advanced Colon Cancer

2002 • 177 citations

Prognostic Value of Tumoral Thymidylate Synthase and p53 in Metastatic Colorectal Cancer Patients Receiving Fluorouracil-Based Chemotherapy: Phenotypic and Genotypic Analyses

2002 • 176 citations

5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites.

2002 • 176 citations

A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk

2001 • 173 citations

High prevalence of a mutation in the cystathionine beta-synthase gene.

1996 • 171 citations

Use of HRT and the subsequent risk of cancer.

1999 • 169 citations

A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma

1998 • 169 citations

Nutritional Status of Folate and Colon Cancer Risk

2001 • 166 citations

Impaired functioning of thermolabile methylenetetrahydrofolate reductase is dependent on riboflavin status: implications for riboflavin requirements

2002 • 165 citations

The effect of 677C → T and 1298A → C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects

2000 • 165 citations

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novelMTHFRpolymorphic site, G1793A

2001 • 163 citations

The role of ethnicity in cancer susceptibility gene polymorphisms: the example of CYP1A1

1998 • 160 citations

Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction

2001 • 154 citations

Intake of selected micronutrients and risk of colorectal cancer

1997 • 152 citations

Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionine β-synthase and A2756G of methionine synthase, with lowered plasma homocysteine levels

2000 • 148 citations

A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability

2002 • 145 citations

Fruit and vegetable intakes and the risk of colorectal cancer in the Breast Cancer Detection Demonstration Project follow-up cohort

2002 • 144 citations

Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

1999 • 138 citations

Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels

2002 • 137 citations

Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: A case-control study

2001 • 133 citations

Micronutrients and the Risk of Colorectal Adenomas

1996 • 132 citations

The methylenetetrahydrofolate reductase 677C-->T polymorphism and distal colorectal adenoma risk.

2000 • 130 citations

Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD)

1999 • 127 citations

Red cell and plasma folate, folate consumption, and the risk of colorectal adenomatous polyps.

1995 • 126 citations

Folate and breast cancer: the role of polymorphisms in methylenetetrahydrofolate reductase (MTHFR)

2002 • 125 citations

Thymidylate synthase expression: an independent prognostic factor for local recurrence, distant metastasis, disease-free and overall survival in rectal cancer.

2000 • 125 citations

Genetic polymorphisms of drug-metabolizing enzymes and susceptibility to head-and-neck squamous-cell carcinoma

1999 • 123 citations

Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease

2003 • 121 citations

Novel thymidylate synthase enhancer region alleles in African populations

2000 • 120 citations

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

2002 • 119 citations

The Role of Vitamin B12 in Fasting Hyperhomocysteinemia and Its Interaction with the Homozygous C677T Mutation of the Methylenetetrahydrofolate Reductase (MTHFR) Gene

2000 • 119 citations

Recommended dietary intakes (RDI) of folate in humans

1987 • 114 citations

Linkage disequilibrium between the 677C > T and 1298A > C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer

2002 • 113 citations

Genetic causes of mild hyperhomocysteinemia in patients with premature occlusive coronary artery diseases

1999 • 113 citations

Are dietary factors involved in DNA methylation associated with colon cancer?

1997 • 109 citations

Methylenetetrahydrofolate reductase C677T polymorphism does not alter folic acid deficiency-induced uracil incorporation into primary human lymphocyte DNA in vitro

2001 • 106 citations

Folate status, metabolic genotype, and biomarkers of genotoxicity in healthy subjects

2003 • 106 citations

Dietary intake of folic acid and colorectal cancer risk in a cohort of women

2001 • 103 citations

Pharmacogenetics and Folate Metabolism –a Promising Direction

2002 • 99 citations

Folates and prevention of disease

2001 • 98 citations

Analysis of select folate pathway genes,PAX3, and humanT in a midwestern neural tube defect population

1999 • 97 citations

Hyperhomocysteinemia and prevalence of polymorphisms of homocysteine metabolism-related enzymes in patients with inflammatory bowel disease

2001 • 94 citations

Relationship between total plasma homocysteine, polymorphisms of homocysteine metabolism related enzymes, risk factors and coronary artery disease in the Australian hospital-based population

1999 • 91 citations

Polymorphisms of Key Enzymes in Homocysteine Metabolism Affect Diet Responsiveness of Plasma Homocysteine in Healthy Women

2001 • 91 citations

Smoking, folate and methylenetetrahydrofolate reductase status as interactive determinants of adenomatous and hyperplastic polyps of colorectum

2001 • 90 citations

Investigation of Folate Pathway Gene Polymorphisms and the Incidence of Neural Tube Defects in a Texas Hispanic Population

2000 • 87 citations

Selected micronutrients and colorectal cancer

2000 • 87 citations

Gene Polymorphisms of Homocysteine Metabolism-Related Enzymes in Chinese Patients with Occlusive Coronary Artery or Cerebral Vascular Diseases

2001 • 86 citations

Gene-environment and Gene-gene Interaction in the Determination of Plasma Homocysteine Levels in Healthy Middle-aged Men

2001 • 85 citations

Biochemistry and molecular genetics of cystathionine β-synthase deficiency

1998 • 84 citations

Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction

2001 • 80 citations

Polymorphisms of methylene-tetrahydrofolate reductase and risk of lung cancer: a case-control study.

2001 • 80 citations

Folate status and adenomatous colonic polyps

1995 • 79 citations

Are common mutations of cystathionine β‐synthase involved in the aetiology of neural tube defects?

1997 • 78 citations

Methylenetetrahydrofolate reductase and spina bifida: Evaluation of level of defect and maternal genotypic risk in Hispanics

2000 • 77 citations

Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population

2001 • 75 citations

A Common 844INS68 Insertion Variant in the Cystathionine β-Synthase Gene

1997 • 72 citations

Folate and alcohol intakes: Related or independent roles in the adenoma‐carcinoma sequence?

1996 • 71 citations

Methyl group metabolism gene polymorphisms and susceptibility to prostatic carcinoma

2000 • 66 citations

Effect Of Metylenetetrahydrofolate Reductase 677 C-T, 1298 A-C, and 1317 T-C on Factor V 1691 Mutation in Turkish Deep Vein Thrombosis Patients

2000 • 66 citations

Genetic Defects as Important Factors for Moderate Hyperhomocysteinemia

2001 • 61 citations

Altered Folate Metabolism and Disposition in Mothers Affected by a Spina Bifida Pregnancy: Influence of 677c → t Methylenetetrahydrofolate Reductase and 2756a → g Methionine Synthase Genotypes

2000 • 60 citations

Methylenetetrahydrofolate reductase polymorphism and risk of colorectal adenomas

2000 • 60 citations

Colorectal adenomas and diet: a case-control study. Colorectal Adenoma Study Group.

2001 • 60 citations

Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles.

2002 • 60 citations

Contribution of the Cystathionine β-Synthase Gene (844ins68) Polymorphism to the Risk of Early-onset Venous and Arterial Occlusive Disease and of Fasting Hyperhomocysteinemia

2000 • 59 citations

Identification of six methylenetetrahydrofolate reductase (MTHFR) genotypes resulting from common polymorphisms: impact on plasma homocysteine levels and development of coronary artery disease

2001 • 57 citations

The Adenoma-Carcinoma Sequence and Prospects for the Prevention of Colorectal Neoplasia

1996 • 56 citations

The 677C > T Mutation in 5,10-Methylenetetrahydrofolate Reductase and Colorectal Cancer Risk

1999 • 54 citations

Relation between Plasma Homocysteine Concentration, the 844ins68 Variant of the Cystathionine β-Synthase Gene, and Pyridoxal-5′-Phosphate Concentration

1999 • 50 citations

Mthfr (C677T) polymorphisms and stage III colon cancer: Response to therapy2

1999 • 49 citations

Thymidylate synthase protein expression in colorectalcancer metastases predicts for clinical outcome to leucovorin-modulated bolus or infusional 5-fluorouracil but not methotrexate-modulated bolus 5-fluorouracil

2002 • 48 citations

Increased prevalence of combined MTR and MTHFR genotypes among individuals with severely elevated total homocysteine plasma levels

2001 • 45 citations

Single nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene are common in US Caucasian and Hispanic American populations

2001 • 44 citations

Polymorphisms of genes controlling homocysteine/folate metabolism and cognitive function

2000 • 44 citations

Cytochrome P450 CYP2D6.

1999 • 43 citations

Lack of association between the C677T MTHFR polymorphism and colorectal hyperplastic polyps.

2000 • 43 citations

Combined heterozygosity for methylenetetrahydrofolate reductase (MTHFR) mutations C677T and A1298C is associated with abruptio placentae but not with intrauterine growth restriction

2001 • 41 citations

The Allele Frequency of Mutations in Four Genes that Confer Enhanced Susceptibility to Venous Thromboembolism in an Unselected Group of New York State Newborns

2000 • 38 citations

Polymorphic methyl group metabolism genes in patients with transitional cell carcinoma of the urinary bladder

2001 • 38 citations

Heterogeneous Ethnic Distribution of the 844ins68 in the Cystathionine β-Synthase Gene

1998 • 36 citations

Genetics University of Toronto Thrombophilia Study in Women (GUTTSI): genetic and other risk factors for venous thromboembolism in women

2001 • 36 citations

Mutações no gene da metilenotetrahidrofolato redutase e síndrome de Down

2002 • 34 citations

DNA polymorphism-diet-cofactor-development hypothesis and the gene-teratogen model for schizophrenia and other developmental disorders

1999 • 33 citations

High Prevalence of the I278T Mutation of the Human Cystathionine β-Synthase Detected by a Novel Screening Application

2001 • 32 citations

Hyperhomocysteinemia Is Related to Residual Glomerular Filtration and Folate, but not to Methylenetetrahydrofolate-Reductase and Methionine Synthase Polymorphisms, in Supplemented End-Stage Renal Disease Patients Undergoing Hemodialysis

2001 • 29 citations

[677T mutation of the MTHFR gene in adenomas and colorectal cancer in a population sample from the Northeastern Mexico. Preliminary results].

2001 • 28 citations

Mutations in the Genes Regulating Methylene Tetrahydrofolate Reductase (MTHFR C→T677) and Cystathione β-Synthase (CBS G→A919, CBS T→c833) Are Not Associated with Myocardial Infarction in African Americans

2001 • 27 citations

Genetic risk factors in young adults with ‘cryptogenic’ ischemic cerebrovascular disease

2002 • 26 citations

Spina bifida and folate-related genes: A study of gene-gene interactions

2002 • 21 citations

Is the common 844ins68 polymorphism in the cystathionine β-synthase gene associated with atherosclerosis?

1999 • 18 citations

Epidemiology of HNPCC.

1994 • 18 citations

Dietary intake of folate and related micronutrients, genetic polymorphisms in MTHFR and colorectal cancer A population-based case-control study in Scotland

2002 • 16 citations

Microheterogeneity in the Distribution of the 844ins68 in the Cystathionine β-Synthase Gene in Italy

1999 • 16 citations

Retrospective study on thymidylate synthase as a predictor of outcome and sensitivity to adjuvant chemotherapy in patients with curatively resected colorectal cancer

2002 • 15 citations

Homocysteine and atheromatous renal artery stenosis

2001 • 13 citations

Colorectal neoplasia and genetic polymorphisms associated with folate metabolism

2002 • 11 citations

A polymorphism of the methylenetetrahydrofolate reductase and methionine synthase gene in CAD patients: association with plasma folate, vitamin B12 and homocysteine

2002 • 5 citations

The effect of folic acid and genetic polymorphisms on DNA stability and colorectal cancer.

2001 • 3 citations

Genetic polymorphisms in folate metabolism, dietary folate intake and colorectal cancer: a population-based case-control study

2001 • 2 citations

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Polymorphisms in Genes Involved in Folate Metabolism and Colorectal Neoplasia: A HuGE… (2004) – American Journal of Epidemiology | Metascience Observatory Explorer