Interaction between folate and methylenetetrahydrofolate reductase gene in cancer

Nutrient-Gene Interactions in Cancer

Volumn , Issue , 2006, Pages 57-74

  Choi, Sang Woon ^a   Friso, Simonetta ^b  

^a TUFTS UNIVERSITY   (United States)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 33947521649     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (85)

1. Kim, Y.I., Folate and carcinogenesis: evidence, mechanisms, and implications, J. Nutr. Biochem., 10, 66, 1999.
2. Heijmans, B.T., Boer, J.M., Suchiman, H.E., Cornelisse, C.J., Westendorp, R.G., Kromhout, D., Feskens, E.J., and Slagboom, P.E., A common variant of the methylenetetrahydrofolate reductase gene (1p36) is associated with an increased risk of cancer, Cancer Res., 63, 1249, 2003.
3. Zhang, S.M., Willett, W.C., Selhub, J., Hunter, D.J., Giovannucci, E.L., Holmes, M.D., Colditz, G.A., and Hankinson, S.E., Plasma folate, vitamin B6, vitamin B12, homocysteine, and risk of breast cancer, J. Natl. Cancer Inst., 95, 373, 2003.
4. Ziegler, R.G., Weinstein, S.J., and Fears, T.R., Nutritional and genetic inefficiencies in one-carbon metabolism and cervical cancer risk, J. Nutr., 132 (Suppl. 8), 2345S, 2002.
5. Choi, S.W. and Mason, J.B., Folate status: effects on pathways of colorectal carcinogenesis, J. Nutr., 132 (Suppl. 8), 2413S, 2002.
6. Cravo, M.L., Mason, J.B., Dayal, Y., Hutchinson, M., Smith, D., Selhub, J., and Rosenberg, I.H., Folate deficiency enhances the development of colonic neoplasia in dimethylhydrazine-treated rats, Cancer Res., 52, 5002, 1992.
7. Kim, Y.I., Salomon, R.N., Graeme-Cook, F., Choi, S.W., Smith, D.E., Dallal, G.E., and Mason, J.B., Dietary folate protects against the development of macroscopic colonic neoplasia in a dose responsive manner in rats, Gut, 39, 732, 1996.
8. Song, J., Medline, A., Mason, J.B., Gallinger, S., and Kim, Y.I., Effects of dietary folate on intestinal tumorigenesis in the apcMin mouse, Cancer Res., 60, 5434, 2000.
9. Ma, J., Stampfer, M.J., Giovannucci, E., Artigas, C., Hunter, D.J., Fuchs, C., Willett, W.C., Selhub, J., Hennekens, C.H., and Rozen, R., Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer, Cancer Res., 57, 1098, 1997.
10. Lashner, B.A., Heidenreich, P.A., Su, G.L., Kane, S.V., and Hanauer, S.B., Effect of folate supplementation on the incidence of dysplasia and cancer in chronic ulcerative colitis. A case-control study, Gastroenterology, 97, 255, 1989.
11. Lashner, B.A., Red blood cell folate is associated with the development of dysplasia and cancer in ulcerative colitis, J. Cancer. Res. Clin. Oncol., 119, 549, 1993.
12. Benito, E., Stiggelbout, A., Bosch, F.X., Obrador, A., Kaldor, J., Mulet, M., and Munoz, N., Nutritional factors in colorectal cancer risk: a case-control study in Majorca, Int. J. Cancer, 49, 161, 1991.
13. Benito, E., Cabeza, E., Moreno, V., Obrador, A., and Bosch, F.X., Diet and colorectal adenomas: a case-control study in Majorca, Int. J. Cancer, 55, 213, 1993.
14. Freudenheim, J.L., Graham, S., Marshall, J.R., Haughey, B.P., Cholewinski, S., and Wilkinson, G., Folate intake and carcinogenesis of the colon and rectum, Int. J. Epidemiol., 20, 368, 1991.
15. Paspatis, G.A., Kalafatis, E., Oros, L., Xourgias, V., Koutsioumpa, P., and Karamanolis, D.G., Folate status and adenomatous colonic polyps. A colonoscopically controlled study, Dis. Colon Rectum, 38, 64, 1995.
16. Giovannucci, E., Rimm E.B., Ascherio, A., Stampfer, M.J., Colditz, G.A., and Willett, W.C., Alcohol, low-methionine-low-folate diets, and risk of colon cancer in men, J. Natl. Cancer Inst., 87, 265, 1995.
17. Giovannucci, E., Stampfer, M.J., Colditz, G.A., Rimm, E.B., Trichopoulos, D., Rosner, B.A., Speizer, F.E., and Willett, W.C., Folate, methionine, and alcohol intake and risk of colorectal adenoma, J. Natl. Cancer Inst., 85, 875, 1993.
18. Choi, S.W. and Mason, J.B., Folate and carcinogenesis: an integrated scheme, J. Nutr., 130, 129, 2000.
19. Kim, Y.I., Role of folate in colon cancer development and progression, J. Nutr., 133 (11 Suppl. 1), 3731S, 2003.
20. Giovannucci, E., Stampfer, M.J., Colditz, G.A., Hunter, D.J., Fuchs, C., Rosner, B.A., Speizer, F.E., and Willett, W.C., Multivitamin use, folate, and colon cancer in women in the Nurses’ Health Study, Ann. Intern. Med., 129, 517, 1998.
21. Cravo, M., Fidalgo, P., Pereira, A.D., Gouveia-Oliveira, A., Chaves, P., Selhub, J., Mason, J.B., Mira, F.C., and Leitao, C.N., DNA methylation as an intermediate biomarker in colorectal cancer: modulation by folic acid supplementation, Eur. J. Cancer Prev. 3, 473, 1994.
22. Khosraviani, K., Weir, H.P., Hamilton, P., Moorehead, J., and Williamson, K., Effect of folate supplementation on mucosal cell proliferation in high risk patients for colon cancer, Gut, 51, 195, 2002.
23. MacKenzie, R.E., Biogenesis and interconversion of substituted tetrahydrofolates, in Folate and Pterins, Blakley, R.L. and Benkovic, S.J., Eds., Vol. 1, John Wiley & Sons, New York, 1984, pp. 255-306.
24. Shane, B., Folylpolyglutamate synthesis and role in the regulation of one-carbon metabolism, Vitam. Horm., 45, 263, 1989.
25. Weissbach, H., and Taylor, R.T., Roles of vitamin B 12 and folic acid in methionine synthesis, Vitam. Horm., 28, 415, 1970.
26. Miller, J.W., Nadeau, M.R., Smith, J., Smith, D., and Selhub, J., Folate-deficiencyinduced homocysteinaemia in rats: disruption of S-adenosylmethionine’s co-ordinate regulation of homocysteine metabolism, Biochem. J., 298, 415, 1994.
27. Balaghi, M. and Wagner, C., DNA methylation in folate deficiency: use of CpG methylase, Biochem. Biophys. Res. Commun., 193, 1184, 1993.
28. Jacob, R.A., Gretz, D.M., Taylor, P.C., James, S.J., Pogribny, I.P., Miller, B.J., Henning, S.M., and Swendseid, M.E., Moderate folate depletion increases plasma homocysteine and decreases lymphocyte DNA methylation in postmenopausal women, J. Nutr., 128, 1204, 1998.
29. Blount, B.C. and Ames, B.N., Analysis of uracil in DNA by gas chromatographymass spectrometry, Anal. Biochem., 219, 195, 1994.
30. James, S.J., Basnakian, A.G., and Miller, B.J., In vitro folate deficiency induces deoxynucleotide pool imbalance, apoptosis, and mutagenesis in Chinese hamster ovary cells, Cancer Res., 54, 5075, 1994.
31. Kunz, B.A., Mutagenesis and deoxyribonucleotide pool imbalance, Mutat. Res., 200, 133, 1988.
32. Blount, B.C., Mack, M.M., Wehr, C.M., MacGregor, J.T., Hiatt, R.A., Wang, G., Wickramasinghe, S.N., Everson, R.B., and Ames, B.N., Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage, Proc. Natl. Acad. Sci. U.S.A., 94, 3290, 1997.
33. Melnyk, S., Pogribna, M., Miller, B.J., Basnakian, A.G., Pogribny, I.P., and James, S.J., Uracil misincorporation, DNA strand breaks, and gene amplification are associated with tumorigenic cell transformation in folate deficient/repleted Chinese hamster ovary cells, Cancer Lett., 146, 35, 1999.
34. Dianov, G.L., Timchenko, T.V., Sinitsina, O.I., Kuzminov, A.V., Medvedev, O.A., and Salganik, R.I., Repair of uracil residues closely spaced on the opposite strands of plasmid DNA results in double-strand break and deletion formation, Mol. Gen. Genet., 225, 448, 1991.
35. Reidy, J.A., Folate-and deoxyuridine-sensitive chromatid breakage may result from DNA repair during G2, Mutat. Res., 192, 217, 1987.
36. Fenech, M., The role of folic acid and vitamin B12 in genomic stability of human cells, Mutat. Res., 475, 57, 2001.
37. Moynahan, M.E. and Jasin, M., Loss of heterozygosity induced by a chromosomal double-strand break, Proc. Natl. Acad. Sci. U.S.A., 94, 8988, 1997.
38. Choi, S.W., Friso, S., Dolnikowski, G.G., Bagley, P.J., Edmondson, A.N., Nadeau, M.R., Smith, D.E., and Mason, J.B., Biochemical and molecular indications that the elder rat colon is particularly susceptible to folate depletion, J. Nutr., 133, 1206, 2003.
39. Selhub, J., Homocysteine metabolism, Annu. Rev. Nutr., 19, 217, 1999.
40. Kang, S.S., Zhou, J., Wong, P.W., Kowalisyn. J., and Strokosch, G., Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase, Am. J. Hum. Genet., 43, 414, 1988.
41. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., denHeijer, M., Kluijtmans, L.A.J., van den Heuvel, L.P., and Rozen, R., A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Nat. Genet., 10, 111, 1995.
42. Ma, J., Stampfer, M.J., Hennekens, C.H., Frosst, P., Selhub, J., Horsford, J., Malinow, M.R., Willett, W.C., and Rozen, R., Methylenetetrahydrofolate reductase polymorphism, plasma folate, homocysteine, and risk of myocardial infarction in U.S. physicians, Circulation, 94, 2410, 1996.
43. Girelli, D., Friso, S., Trabetti, E., Olivieri, O., Russo, C., Pessotto, R., Faccini, G., Pignatti, P.F., Mazzucco, A., and Corrocher, R., 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, Blood, 91, 4158, 1998.
44. Viel, A., Dall’Agnese, L., Simone, F., Canzonieri, V., Capozzi, E., Visentin, M.C., Valle, R., and Boiocchi, M., Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas, Br. J. Cancer, 75, 1105, 1997.
45. van der Put, N.M.J., Gabreels, F., Stevens, E.M.B., Smeitink, J.A.M., Trijbels, F.J.M., Eskes, T.K.A.B., van den Heuvel, L.P., and Blom, H.J., A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects?, Am. J. Hum. Genet., 62, 1044, 1998.
46. Yamada, K., Chen, Z., Rozen, R., and Matthews, R.G., Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase, Proc. Natl. Acad. Sci. U.S.A., 98, 14853, 2001.
47. Weisberg, I., Tran, P., Christensen, B., Sibani, S., and Rozen, R., A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity, Mol. Genet. Metab., 64, 169, 1998.
48. Friso, S., Girelli, D., Trabetti, E., Stranieri, C., Olivieri, O., Tinazzi, E., Martinelli, N., Faccini, G., Pignatti, P.F., and Corrocher, R., A1298C methylenetetrahydrofolate reductase mutation and coronary artery disease: relationships with C677T polymorphism and homocysteine/folate metabolism, Clin. Exp. Med., 2.7, 2002.
49. Chango, A., Boisson, F., Barbé, F., Quilliot, D., Droesch, S., Pfister, M., Fillon-Emery, N., Lambert, D., Frémont, S., Rosenblatt, D.S., and Nicolas, J.P., The effect of 677C→T and 1298A→C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects, Br. J. Nutr., 83, 593, 2000.
50. Friedman, G., Goldschmidt, N., Friedlander, Y., Ben-Yehuda, A., Selhub, J., Babaey, S., Mendel, M., Kidron, M., and Bar-On, H., A common mutation 1298 A→C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations, J. Nutr., 129, 1656, 1999.
51. Guenther, B.D., Sheppard, C.A., Tran, P., Rozen, R., Matthews, R.G., and Ludwig, M.L., The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia, Nat. Struct. Biol., 6, 359, 1999.
52. Isotalo, P.A., Wells, G.A., and Donnelly, J.G., Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations, Am. J. Hum. Genet., 67, 986, 2000.
53. Ogino, S. and Wilson, R.B., Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis, J. Hum. Genet., 48, 1, 2003.
54. Kim, Y.I., Methylenetetrahydrofolate reductase polymorphisms, folate, and cancer risk: a paradigm of gene-nutrient interactions in carcinogenesis, Nutr. Rev., 58, 205, 2000.
55. Bagley, P.J. and Selhub, J., A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells, Proc. Natl. Acad. Sci. U.S.A., 95, 13217, 1998.
56. Stern, L.L., Mason, J.B., Selhub, J., and Choi, S.W., Genomic DNA hypomethylation, a characteristic of most cancers, is present peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene, Cancer Epidemiol. Biomarkers Prev., 9, 849, 2000.
57. Jacques, P.F., Bostom, A.G., Williams, R.R., Ellison, R.C., Eckfeldt, J.H., Rosenberg, I.H., Selhub, J., and Rozen, R., Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations, Circulation, 93, 7, 1996.
58. Girelli, D., Martinelli, N., Pizzolo, F., Friso, S., Olivieri, O., Stranieri, C., Trabetti, E., Faccini, G., Tinazzi, E., Pignatti, P.F., and Corrocher, R., The interaction between MTHFR 677 C→T genotype and folate status is a determinant of coronary atherosclerosis risk, J. Nutr., 133, 1281, 2003.
59. Hustad, S., Ueland, P.M., Vollset, S.E., Zhang, Y., Bjorke-Monsen, A.L., and Schneede, J., Riboflavin as a determinant of plasma total homocysteine: effect modification by the methylenetetrahydrofolate reductase C677T polymorphism, Clin. Chem., 46 (8 Pt. 1), 1065, 2000.
60. Lathrop Stern, L., Shane, B., Bagley, P.J., Nadeau, M., Shih, V., and Selhub, J., Combined marginal folate and riboflavin status affect homocysteine methylation in cultured immortalized lymphocytes from persons homozygous for the MTHFR C677T mutation, J. Nutr., 133, 2716, 2003.
61. Friso, S., Choi, S.W., Girelli, D., Mason, J.B., Dolnikowski, G.G., Bagley, P.J., Olivieri, O., Jacques, P.F., Rosenberg, I.H., Corrocher, R., and Selhub, J., A common mutation in the 5, 10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status, Proc. Natl. Acad. Sci. U.S.A., 99, 5606, 2002.
62. Friso, S. and Choi, S.W., Gene-nutrient interactions and DNA methylation, J. Nutr., 132 (Suppl. 8), 2382S, 2002.
63. Friso, S., Girelli, D., Trabetti, E., Olivieri, O., Guarini, P., Pignatti, P.F., Corrocher, R., and Choi, S.W., The MTHFR 1298A>C polymorphism and genomic DNA methylation in human lymphocytes, Cancer Epidemiol. Biomarkers Prev., 14, 938, 2005.
64. Bayline, S.B., Belinsky, S.A., and Herman, J.G., Aberrant methylation of gene promoters in cancer-concepts, misconcepts, and promise, J. Natl. Cancer Inst., 92, 1460, 2000.
65. Tsujiuchi, T., Tsutsumi, M., Sasaki, Y., Takahama, M., and Konishi, Y., Hypomethylation of CpG sites and c-myc gene overexpression in hepatocellular carcinomas, but not hyperplastic nodules, induced by a choline-deficient L-amino acid-defined diet in rats, Jpn. J. Cancer Res., 90, 909, 1999.
66. Pogribny, I.P., Miller, B.J., and James, S.J., Alterations in hepatic p53 gene methylation patterns during tumor progression with folate/methyl deficiency in the rat, Cancer Lett., 115, 31, 1997.
67. Herman, J.G., Merlo, A., Mao, L., Lapidus, R.G., Issa, J.P., Davidson, N.E., Sidransky, D., and Baylin, S.B., Inactivation of the CDKN2/p16/MTS1 gene is frequently associated with aberrant DNA methylation in all common human cancers, Cancer Res., 55, 4525, 1995.
68. Schroeder, M. and Mass, M.J., CpG methylation inactivates the transcriptional activity of the promoter of the human p53 tumor suppressor gene, Biochem. Biophys. Res. Commun., 235, 403, 1997.
69. Hiltunen, M.O., Alhonen, L., Koistinaho, J., Myohanen, S., Paakkonen, M., Marin, S., Kosma, V.M., and Janne, J., Hypermethylation of the APC (adenomatous polyposis coli) gene promoter region in human colorectal carcinoma, Int. J. Cancer, 70, 644, 1997.
70. Jhaveri, M.S., Wagner, C., and Trepel, J.B., Impact of extracellular folate levels on global gene expression, Mol. Pharmacol., 60, 1288, 2001.
71. Crott, J.W., Mashiyama, S.T., Ames, B.N., and Fenech, M., The effect of folic acid deficiency and MTHFR C677T polymorphism on chromosome damage in human lymphocytes in vitro, Cancer Epidemiol. Biomarkers Prev., 10, 1089, 2001.
72. Narayanan, S., McConnell, J., Little, J., Sharp, L., Piyathilake, C.J., Powers, H., Basten, G., and Duthie, S.J., Associations between two common variants C677T and A1298C in the methylenetetrahydrofolate reductase gene and measures of folate metabolism and DNA stability (strand breaks, misincorporated uracil, and DNA methylation status) in human lymphocytes in vivo, Cancer Epidemiol. Biomarkers Prev., 13, 1436, 2004.
73. Chen, J., Giovannucci, E., Kelsey, K., Rimm, E.B., Stampfer, M.J., Colditz, G.A., Spiegelman, D., Willett, W.C., and Hunter, D.J., A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer, Cancer Res., 56, 4862, 1996.
74. Slattery, M.L., Potter, J.D., Samowitz, W., Schaffer, D., and Leppert, M., Methylenetetrahydrofolate reductase, diet, and risk of colon cancer, Cancer Epidemiol. Biomarkers Prev., 8, 513, 1999.
75. Marugame, T., Tsuji, E., Kiyohara, C., Eguchi, H., Oda. T., Shinchi, K., and Kono, S., Relation of plasma folate and methylenetetrahydrofolate reductase C677T polymorphism to colorectal adenomas, Int. J. Epidemiol., 32, 64, 2003.
76. Ulrich, C.M., Kampman, E., Bigler, J., Schwartz, S.M., Chen, C., Bostick, R., Fosdick, L., Beresford, S.A., Yasui, Y., and Potter, J.D., Colorectal adenomas and the C677T MTHFR polymorphism: evidence for gene-environment interaction?, Cancer Epidemiol. Biomarkers Prev., 8, 659, 1999.
77. Chen, J., Ma, J., Stampfer, M.J., Palomeque, C., Selhub, J., and Hunter, D.J., Linkage disequilibrium between the 677C > T and 1298A > C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer, Pharmacogenetics, 12, 339, 2002.
78. Keku, T., Millikan, R., Worley, K., Winkel, S., Eaton, A., Biscocho, L., Martin, C., and Sandler, R., 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites, Cancer Epidemiol. Biomarkers Prev., 11, 1611, 2002.
79. Skibola, C.F., Smith, M.T., Kane, E., Roman. E., Rollinson, S., Cartwright. R.A., and Morgan, G., Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults, Proc. Natl. Acad. Sci. U.S.A., 96, 12810, 1999.
80. Franco, R.F., Simoes, B.P., Tone, L.G., Gabellini, S.M., Zago, M.A., and Falcao, R.P., The methylenetetrahydrofolate reductase C677T gene polymorphism decreases the risk of childhood acute lymphocytic leukaemia, Br. J. Haematol., 115, 616, 2001.
81. Robien, K. and Ulrich, C.M., 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: a HuGE minireview, Am. J. Epidemiol., 157, 571, 2003.
82. Lin, J., Spitz, M.R., Wang, Y., Schabath, M.B., Gorlov, I.P., Hernandez, L.M., Pillow, P.C., Grossman, H.B., and Wu, X., Polymorphisms of folate metabolic genes and susceptibility to bladder cancer: a case-control study, Carcinogenesis, 25, 1639, 2004.
83. Goodman, M.T., McDuffie, K., Hernandez, B., Wilkens, L.R., Bertram, C.C., Killeen, J., Le Marchand, L., Selhub, J., Murphy, S., and Donlon, T.A., Association of methylenetetrahydrofolate reductase polymorphism C677T and dietary folate with the risk of cervical dysplasia, Cancer Epidemiol. Biomarkers Prev., 10, 1275, 2001.
84. Chen, J., Gammon, M.D., Chan, W., Palomeque, C., Wetmur, J.G., Kabat, G.C., Teitelbaum, S.L., Britton, J.A., Terry, M.B., Neugut, A.I., and Santella, R.M., Onecarbon metabolism, MTHFR polymorphisms, and risk of breast cancer, Cancer Res., 65, 1606, 2005.
85. Friso, S. and Choi, S.W. Gene-nutrient interactions in one-carbon metabolism, Curr. Drug Metab., 6, 37, 2005.