Pharmacogenetics and folate metabolism - A promising direction

Pharmacogenomics

Volumn 3, Issue 3, 2002, Pages 299-313

  Ulrich, Cornelia M ^a   Robien, Kim ^a   Sparks, Rachel ^a  

^a Fred Hutchinson Cancer Research Center   (United States)

Author keywords

5 fluorouracil; Folic acid; Methotrexate; MTHFR; Pharmacogenetics; Polymorphism; Thymidylate synthase

Indexed keywords

5 METHYLTETRAHYDROFOLIC ACID; 5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CAPECITABINE; CARRIER PROTEIN; CYCLOPHOSPHAMIDE; CYCLOSPORIN; DEOXYURIDINE PHOSPHATE; DIHYDROFOLATE REDUCTASE; EDATREXATE; FLUOROPYRIMIDINE DERIVATIVE; FLUOROURACIL; FOLATE BINDING PROTEIN; FOLIC ACID; FOLIC ACID ANTAGONIST; FOLINIC ACID; GAMMA GLUTAMYL HYDROLASE; GLYCINE HYDROXYMETHYLTRANSFERASE; LOMETREXOL; METHIONINE SYNTHASE; METHOTREXATE; METHYLENETETRAHYDROFOLIC ACID; NOLATREXED; PEMETREXED; PHOSPHORIBOSYLGLYCINAMIDE FORMYLTRANSFERASE; RALTITREXED; S ADENOSYLMETHIONINE; TEGAFUR; THYMIDINE PHOSPHATE; THYMIDYLATE SYNTHASE INHIBITOR; UNINDEXED DRUG;

BREAST CANCER; CANCER CHEMOTHERAPY; CHEMICAL STRUCTURE; CONTROLLED STUDY; DRUG EFFICACY; DRUG MECHANISM; DRUG TARGETING; ENZYME POLYMORPHISM; FOLATE METABOLISM; FOLIC ACID DEFICIENCY; GENETIC VARIABILITY; GENOTYPE; GRAFT VERSUS HOST REACTION; HUMAN; PHARMACOGENETICS; REVIEW; RHEUMATOID ARTHRITIS; SIDE EFFECT; TREATMENT OUTCOME;

ANIMALS; DRUG RESISTANCE; FOLIC ACID; FOLIC ACID ANTAGONISTS; HUMANS; PHARMACOGENETICS;

EID: 0036265638     PISSN: 14622416     EISSN: None     Source Type: Journal    
DOI: 10.1517/14622416.3.3.299     Document Type: Review

References (112)

1. The history of folic acid
2. The concentration of 'folic acid'
3. Synthesis of a compound identical with the L. casei factor isolated from liver
4. Antagonist for pteroylglutamic acid
5. Biochemical role of folate in cellular metabolism
6. Folate chemistry and metabolism
7. Expression of folate receptor type alpha in relation to cell type, malignancy, and differentiation in ovary, uterus, and cervix
8. Coordinately up-regulated genes in ovarian cancer
9. The alpha folate receptor is highly activated in malignant pleural mesothelioma
10. Folate receptor type beta is a neutrophilic lineage marker and is differentially expressed in myeloid leukemia
11. Substrate flux through methylenetetrahydrofolate dehydrogenase: Predicted effects of the concentration of methylenetetrahydrofolate on its partitioning into pathways leading to nucleotide biosynthesis or methionine regeneration
12. Biological and clinical implications of the MTHFR C677T polymorphism
13. Antineoplastic agents
14. Cobalamin-dependent methionine synthase and serine hydroxymethyltransferase: Targets for chemotherapeutic intervention?
15. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage
16. Uracil misincorporation in human DNA detected using single cell gel electrophoresis
17. DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro
18. Accumulation of DNA strand breaks in cells exposed to methotrexate or N10-propargyl-5,8-dideazafolic acid
19. Folate, vitamin B12, homocysteine status and DNA damage in young Australian adults
20. DNA damage in folate deficiency
21. Folate- and deoxyuridine-sensitive chromatid breakage may result from DNA repair during G2
22. Micronuclei in lymphocytes and exfoliated buccal cells of postmenopausal women with dietary changes in folate
23. The lymphocyte as a marker of past Nutritional status: Persistence of abnormal lymphocyte deoxyuridine (dU) suppression test and chromosomes in patients with past deficiency of folate and vitamin B12
24. 5-Fluoropyrimidines
25. Antifolates
26. Threshold methotrexate concentration for in vivo inhibition of DNA synthesis in normal and tumorous target tissues
27. Pharmacokinetic basis for differences in methotrexate sensitivity of normal proliferative tissues in the mouse
28. Folate antagonists in nonneoplastic disease: Proposed mechanisms of efficacy and toxicity
29. The comparative efficacy and toxicity of second-line drugs in rheumatoid arthritis. Results of two metaanalyses
30. Methotrexate in rheumatoid arthritis. Toxic effects as the major factor in limiting long-term treatment
31. Acquisition of resistance to antifolates caused by enhanced gamma-glutamyl hydrolase activity
32. Decreased folylpolyglutamate synthetase activity in tumors resistant to fluorouracil-folinic acid treatment: Clinical data
33. Mutations in dihydropteroate synthase gene of Pneumocystis carinii in HIV patients with Pneumocystis carinii pneumonia
34. Rapid detection of dihydropteroate polymorphism in AIDS-related Pneumocystis carinii pneumonia by restriction fragment length polymorphism
35. Thymidylate synthase gene and protein expression correlate and are associated with response to 5-fluorouracil in human colorectal and gastric tumors
36. Quantitation of intratumoral thymidylate synthase expression predicts for disseminated colorectal cancer response and resistance to protracted-infusion fluorouracil and weekly leucovorin
37. Update on antifolate drugs targets
38. Folate and antifolate pharmacology
39. Transport of folate compounds by leukemic cells. Evidence for a single influx carrier for methotrexate, 5-methyltetrahydrofolate, and folate in CCRF-CEM human lymphoblasts
40. Transport routes utilized by L1210 cells for the influx and efflux of methotrexate
41. The biological chemistry of folate receptors
42. Identification of a highly glycosylated methotrexate membrane carrier in K562 human erythroleukemia cells up-regulated for tetrahydrofolate cofactor and methotrexate transport
43. Enhanced inhibition of thymidylate synthase by methotrexate polyglutamates
44. Inhibition of 5-aminoimidazole-4-carboxamide ribotide transformylase, adenosine deaminase and 5′-adenylate deaminase by polyglutamates of methotrexate and oxidized folates and by 5-aminoimidazole-4-carboxamide riboside and ribotide
45. Mechanism of thymidylate synthase inhibition by methotrexate in human neoplastic cell lines and normal human myeloid progenitor cells
46. Effect of methotrexate on intracellular folate pools in purified myeloid precursor cells from normal human bone marrow
47. Role of methylenetetrahydrofolate depletion in methotrexate-mediated intracellular thymidylate synthesis inhibition in cultured L1210 cells
48. Antifolates in clinical development
49. Pemetrexed: A multitargeted antifolate agent with promising activity in solid tumors
50. Capecitabine: A review of its use in the treatment of advanced or metastatic colorectal cancer
51. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
52. Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults
53. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia
54. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer
55. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer
56. Colorectal adenomas and the C677T MTHFR polymorphism: Evidence for gene-environment interaction?
57. Methylenetetrahydrofolate reductase, diet, and risk of colon cancer
58. Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida
59. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects
60. Thermolabile methylenetetrahydrofolate reductase in coronary artery disease
61. Folate and carcinogenesis: An integrated scheme
62. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects?
63. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
64. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: An examination of C677T and A1298C mutations
65. 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
66. Role in translation of a triple tandemly repeated sequence in the 5′-untranslated region of human thymidylate synthase mRNA
67. Novel thymidylate synthase enhancer region alleles in African populations
68. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase
69. Thymidylate synthase gene polymorphism determines response and toxicity of 5-FU chemotherapy
70. Searching expressed sequence tag databases: Discovery and confirmation of a common polymorphism in the thymidylate synthase gene
71. A 6 base-pair deletion in the 3′UTR of the thymidylate synthase (TS) gene predicts TS mRNA expression in colorectal tumors. A possible candidate gene for colorectal cancer risk
72. A novel single-nucleotide polymorphism in the 3′-untranslated region of the human dihydrofolate reductase gene with enhanced expression
73. Inherited disorders of cobalamin transport and metabolism
74. Inherited disorders of folate transport and metabolism
75. Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders
76. A polymorphism of the methionine synthase gene: Association with plasma folate, vitamin B12, homocysteine, and colorectal cancer risk
77. Sequence analysis of the coding region of human methionine synthase: Relevance to hyperhomocysteinaemia in neural-tube defects and vascular disease
78. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction
79. Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations
80. High-dose vitamin therapy stimulates variant enzymes with decreased coenzyme binding affinity (increased Km): Relevance to genetic disease and polymorphisms
81. A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma
82. Cloning and mapping of a cDNA for methionine synthase reductase, a flavoprotein defective in patients with homocystinuria
83. Functional methionine synthase deficiency (cblE and cblG): Clinical and biochemical heterogeneity
84. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
85. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations
86. Disorders of transsulfuration
87. The human cystathionine beta-synthase (CBS) gene: Complete sequence, alternative splicing, and polymorphisms
88. Polymorphisms in the CBS gene associated with decreased risk of coronary artery disease and increased responsiveness to total homocysteine lowering by folic acid
89. Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?
90. A polymorphism (80G→A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia
91. Genetic polymorphism (G80A) of reduced folate carrier gene in ethnic populations
92. Single nucleotide polymorphisms in the human reduced folate carrier: Characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers
93. MTHFR (C677T) polymorphisms and stage III colon cancer: Response to therapy
94. Pharmacogenetics of methotrexate: Toxicity among marrow transplantation patients varies with the methylenetetrahydrofolate reductase polymorphism
95. Methotrexate and cyclosporine compared with cyclosporine alone for prophylaxis of acute graft versus host disease after marrow transplantation for leukemia
96. MTHFR gene polymorphism and severe toxicity during adjuvant treatment of early breast cancer with cyclophosphamide, methotrexate, and fluorouracil (CMF)
97. Ethnic variation in the thymidylate synthase enhancer region polymorphism among Caucasian and Asian populations
98. Polymorphisms of the repeated sequences in the enhancer region of the thymidylate synthase gene promoter may predict downstaging after preoperative chemoradiation in rectal cancer
99. Polymorphism in the thymidylate synthase promoter enhancer region in colorectal cancer
100. A polymorphism in the enhancer region of the thymidylate synthase promoter influences the survival of colorectal cancer patients treated with 5-fluorouracil
101. A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells
102. The role of folic acid and Vitamin B12 in genomic stability of human cells
103. Allelotype of colorectal carcinomas
104. Oral mucositis and the clinical and economic outcomes of hematopoietic stem-cell transplantation
105. Pharmacogenetics and cancer therapy
106. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity
107. Clinical pharmacokinetics of antitumor antifolates
108. Oral uracil-tegafur: An alternative to intravenous 5-fluorouracil?
109. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review
110. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation
111. Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population
112. Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma