MTHFR C677T and A1298C Polymorphisms: Diet, Estrogen, and Risk of Colon Cancer

Cancer Epidemiology Biomarkers and Prevention

Volumn 13, Issue 2, 2004, Pages 285-292

  Curtin, Karen ^a   Bigler, Jeannette ^b   Slattery, Martha L ^a   Caan, Bette ^c   Potter, John D ^b   Ulrich, Cornelia M ^b  

^a UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^b Fred Hutchinson Cancer Research Center   (United States)

^c DIVISION OF RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; ESTROGEN; FOLIC ACID; PYRIDOXINE; RIBOFLAVIN;

ADULT; AGED; ARTICLE; CANCER RISK; COLON CANCER; CONTROLLED STUDY; DIET; ENZYME POLYMORPHISM; ESTROGEN METABOLISM; FEMALE; FOLATE METABOLISM; GENE; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; MTHFR GENE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; RISK FACTOR; SEX DIFFERENCE; VITAMIN INTAKE;

ADULT; AGED; CASE-CONTROL STUDIES; COLONIC NEOPLASMS; DIET; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HORMONE REPLACEMENT THERAPY; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; POLYMORPHISM, GENETIC; RISK ASSESSMENT;

EID: 1242336874     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-03-0083     Document Type: Article

References (49)

1. Wagner, C. Biochemical role of folate in cellular metabolism. Folate in health and disease. New York: Marcel Dekker, 1995.
2. 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: 368-374, 1991.
3. Benito, E., Obrador, A., Stiggelbout, A., Bosch, F. X., Mulet, M., Munoz, N., and Kaldor, J. A population-based case-control study of colorectal cancer in Majorca. I. Dietary factors. Int. J. Cancer, 45: 69-76, 1990.
4. Meyer, F., and White, E. Alcohol and nutrients in relation to colon cancer in middle-aged adults. Am. J. Epidemiol., 138: 225-236, 1993.
5. Glynn, S. A., Albanes, D., Pietinen, P., Brown, C. C., Rautalahti, M., Tangrea, J. A., Gunter, E. W., Barrett, M. J., Virtamo, J., and Taylor, P. R. Colorectal cancer and folate status: a nested case-control study among male smokers. Cancer Epidemiol. Biomark. Prev., 5: 487-494, 1996.
6. Baron, J. A., Sandler, R. S., Haile, R. W., Mandel, J. S., Mott, L. A., and Greenberg, E. R. Folate intake, alcohol consumption, cigarette smoking, and risk of colorectal adenomas. J. Natl. Cancer Inst., 90: 57-62, 1998.
7. Konings, E. J., Goldbohm, R. A., Brants, H. A., Saris, W. H., and van den Brandt, P. A. Intake of dietary folate vitamers and risk of colorectal carcinoma: results from The Netherlands Cohort Study. Cancer (Phila.), 95: 1421-1433, 2002.
8. Su, L. J., and Arab, L. Nutritional status of folate and colon cancer risk: evidence from NHANES I epidemiologic follow-up study. Ann. Epidemiol., 11: 65-72, 2001.
9. Slattery, M. L., Potter, J. D., Samowitz, W., Schaffer, D., and Leppert, M. Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol. Biomark. Prev., 8: 513-518, 1999.
10. 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: 1098-102, 1997.
11. Chen, J., Giovannucci, E., Hankinson, S. E., Ma, J., Willett, W. C., Spiegelman, D., Kelsey, K. T., and Hunter, D. J. A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma. Carcinogenesis (Lond.), 19: 2129-2132, 1998.
12. 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. Biomark. Prev., 8: 659-668, 1999.
13. Ulrich, C. M., Bigler, J., Bostick, R., Fosdick, L., and Potter, J. D. Thymidylate synthase promoter polymorphism, interaction with folate intake, and risk of colorectal adenomas. Cancer Res., 62: 3361-3364, 2002.
14. Choi, S. W., and Mason, J. B. Folate and carcinogenesis: an integrated scheme. J. Nutr., 130: 129-132, 2000.
15. Duthie, S. J. Folic acid deficiency and cancer: mechanisms of DNA instability. Br. Med. Bull., 55: 578-592, 1999.
16. Frosst, P., Blom, H. J., Milos, R., Goyette, P., Sheppard, C. A., Matthews, R. G., Boers, G. J., den Heijer, M., Kluijtmans, L. A., van den Heuvel, L. P., and Rozen, R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase [letter]. Nat. Genet., 10: 111-113, 1995.
17. 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: 169-172, 1998.
18. 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. USA, 95: 13217-13220, 1998.
19. 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. USA, 98: 14853-14858, 2001.
20. Weisberg, I. S., Jacques, P. F., Selhub, J., Bostom, A. G., Chen, Z., Curtis Ellison, R., Eckfeldt, J. H., and Rozen, R. The 1298A→C polymorphism in methylenetetrahydrofolate reductase (MTHFR): in vitro expression and association with homocysteine. Atherosclerosis, 156: 409-415, 2001.
21. 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. USA, 96: 12810-12815, 1999.
22. Wiemels, J. L., Smith, R. N., Taylor, G. M., Eden, O. B., Alexander, F. E., Greaves, M. F., and United Kingdom Childhood Cancer Study, i. Methylenetetrahydrofolate reductase (MTHFR) polymorphisms and risk of molecularly defined subtypes of childhood acute leukemia. Proc. Natl. Acad. Sci. USA, 98: 4004-4009, 2001.
23. 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. Biomark. Prev., 11: 1611-1621, 2002.
24. van der Put, N. M., Gabreels, F., Stevens, E. M., Smeitink, J. A., Trijbels, F. J., Eskes, T. K., 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: 1044-1051, 1998.
25. Slattery, M. L., Edwards, S. L., Caan, B. J., Kerber, R. A., and Potter, J. D. Response rates among control subjects in case-control studies. Ann. Epidemiol., 5: 245-249, 1995.
26. Edwards, S., Slattery, M. L., Mori, M., Berry, T. D., Caan, B. J., Palmer, P., and Potter, J. D. Objective system for interviewer performance evaluation for use in epidemiologic studies. Am. J. Epidemiol., 140: 1020-1028, 1994.
27. Slattery, M. L., Caan, B. J., Duncan, D., Berry, T. D., Coates, A., and Kerber, R. A computerized diet history questionnaire for epidemiologic studies. J. Am. Diet. Assoc., 94: 761-766, 1994.
28. Liu, K., Slattery, M., Jacobs, D., Jr., Cutter, G., McDonald, A., Van Horn, L., Hilner, J. E., Caan, B., Bragg, C., Dyer, A., and et al. A study of the reliability and comparative validity of the cardia dietary history. Ethnicity Dis., 4: 15-27, 1994.
29. Slattery, M. L., Schaffer, D., Edwards, S. L., Ma, K. N., and Potter, J. D. Are dietary factors involved in DNA methylation associated with colon cancer? Nutr. Cancer, 28: 52-62, 1997.
30. Kampman, E., Slattery, M. L., Bigler, J., Leppert, M., Samowitz, W., Caan, B. J., and Potter, J. D. Meat consumption, genetic susceptibility, and colon cancer risk: a United States multicenter case-control study. Cancer Epidemiol. Biomark. Prev., 8: 15-24, 1999.
31. Hosmer, D. W., and Lemeshow, S. Confidence interval estimation of interaction. Epidemiology, 3: 452-456, 1992.
32. van Baal, W. M., Smolders, R. G., van der Mooren, M. J., Teerlink, T., and Kenemans, P. Hormone replacement therapy and plasma homocysteine levels. Obstet. Gynecol., 94: 485-491, 1999.
33. Smolders, R. G., Vogelvang, T. E., Mijatovic, V., van Baal, W. M., Neele, S. J., Netelenbos, J. C., Kenemans, P., and van der Mooren, M. J. A 2-year, randomized, comparative, placebo-controlled study on the effects of raloxifene on lipoprotein(a) and homocysteine. Maturitas, 41: 105-114, 2002.
34. Somekawa, Y., Kobayashi, K., Tomura, S., Aso, T., and Hamaguchi, H. Effects of hormone replacement therapy and methylenetetrahydrofolate reductase polymorphism on plasma folate and homocysteine levels in postmenopausal Japanese women. Fertil. Steril., 77: 481-486, 2002.
35. Morris, M. S., Jacques, P. F., Selhub, J., and Rosenberg, I. H. Total homocysteine and estrogen status indicators in the Third National Health and Nutrition Examination Survey. Am. J. Epidemiol., 152: 140-148, 2000.
36. Mijatovic, V., and van der Mooren, M. J. Homocysteine in postmenopausal women and the importance of hormone replacement therapy. Clin. Chem. Lab. Med., 39: 764-767, 2001.
37. 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: 4862-4864, 1996.
38. Houlston, R. S., and Tomlinson, I. P. Polymorphisms and colorectal tumor risk. Gastroenterology, 121: 282-301, 2001.
39. 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: 339-342, 2002.
40. 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 US physicians. Circulation, 94: 2410-2416, 1996.
41. Levine, A. J., Siegmund, K. D., Ervin, C. M., Diep, A., Lee, E. R., Frankl, H. D., and Haile, R. W. The methylenetetrahydrofolate reductase 677C→T polymorphism and distal colorectal adenoma risk. Cancer Epidemiol. Biomark. Prev., 9: 657-663, 2000.
42. Halsted, C. Alcohol and folate interactions: clinical implications. Folate in health and disease. New York: Marcel Dekker, 1995.
43. Halsted, C. H., Villanueva, J. A., Devlin, A. M., and Chandler, C. J. Metabolic interactions of alcohol and folate. J. Nutr., 132: 2367S-2372S, 2002.
44. National Institute on Alcohol Abuse and Alcoholism. Tenth Special Report to the U. S. Congress on Alcohol and Health: U. S. Department of Health and Human Services, Rockville, MD, 2000.
45. Stern, L. L., Mason, J. B., Selhub, J., and Choi, S. W. Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene. Cancer Epidemiol. Biomark. Prev., 9: 849-853, 2000.
46. 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. USA. 99: 5606-5611, 2002.
47. Issa, J. P., Ottaviano, Y. L., Celano, P., Hamilton, S. R., Davidson, N. E., and Baylin, S. B. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat. Genet., 7: 536-540, 1994.
48. Baylin, S. B., Herman, J. G., Graff, J. R., Vertino, P. M., and Issa, J. P. Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv. Cancer Res., 72: 141-196, 1998.
49. Slattery, M. L., Potter, J. D., Curtin, K., Edwards, S., Ma, K. N., Anderson, K., Schaffer, D., and Samowitz, W. S. Estrogens reduce and withdrawal of estrogens increase risk of microsatellite instability-positive colon cancer. Cancer Res., 61: 126-130, 2001.