A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk

Cancer Epidemiology Biomarkers and Prevention

Volumn 19, Issue 7, 2010, Pages 1812-1821

  Levine, A Joan ^a   Figueiredo, Jane C ^a   Lee, Won ^a   Conti, David V ^a   Kennedy, Kathleen ^b   Duggan, David J ^b   Poynter, Jenny N ^c   Campbell, Peter T ^d   Newcomb, Polly ^e   Martinez, Maria Elena ^f   Hopper, John L ^g   Le Marchand, Loic ^h   Baron, John A ⁱ   Limburg, Paul J ^j   Ulrich, Cornelia M ^e,k   Haile, Robert W ^a  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^c UNIVERSITY OF MINNESOTA   (United States)

^d AMERICAN CANCER SOCIETY   (United States)

^e Fred Hutchinson Cancer Research Center   (United States)

^f UNIVERSITY OF ARIZONA   (United States)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h UNIVERSITY OF HAWAII CANCER CENTER   (United States)

ⁱ DARTMOUTH MEDICAL SCHOOL   (United States)

^j MAYO CLINIC   (United States)

^k GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARBON; CYANOCOBALAMIN; FOLIC ACID; MULTIVITAMIN;

ADULT; ARTICLE; CANCER REGISTRY; CANCER RISK; CARBON METABOLISM; COLORECTAL CANCER; DIETARY INTAKE; FEMALE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN METABOLISM; VITAMIN SUPPLEMENTATION; CASE CONTROL STUDY; COLORECTAL NEOPLASMS; DIET SUPPLEMENTATION; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; METABOLISM; MIDDLE AGED; UNITED STATES;

CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; DIETARY SUPPLEMENTS; FEMALE; FOLIC ACID; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; UNITED STATES; VITAMIN B 12;

EID: 77954469742     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-10-0151     Document Type: Article

References (74)

1. Giovannucci E. Epidemiologic studies of folate and colorectal neoplasia: a review. J Nutr 2002;132:2350-5S.
2. Kim YI. Role of folate in colon cancer development and progression. J Nutr 2003;133:3731-9S.
3. Ulrich CM. Nutrigenetics in cancer research-folate metabolism and colorectal cancer. J Nutr 2005;135:2698-702.
4. Jones PA, Baylin SB. The epigenomics of cancer. Cell 2007;128: 683-92.
5. Ehrlich M. DNA methylation in cancer: too much, but also too little. Oncogene 2002;21:5400-13.
6. Pogribny IP, Beland FA. DNA hypomethylation in the origin and pathogenesis of human diseases. Cell Mol Life Sci 2009;66:2249-61.
7. Blount BC, Mack MM, Wehr CM, et al. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc Natl Acad Sci U S A 1997;94:3290-5.
8. Duthie SJ, Narayanan S, Sharp L, Little J, Basten G, Powers H. Folate, DNA stability and colo-rectal neoplasia. Proc Nutr Soc 2004;63:571-8.
9. Beetstra S, Thomas P, Salisbury C, Turner J, Fenech M. Folic acid deficiency increases chromosomal instability, chromosome 21 aneuploidy and sensitivity to radiation-induced micronuclei. Mutat Res 2005;578:317-26.
10. Kim YI. Will mandatory folic acid fortification prevent or promote cancer? Am J Clin Nutr 2004;80:1123-8.
11. Ulrich CM, Potter JD. Folate supplementation: too much of a good thing? Cancer Epidemiol Biomarkers Prev 2006;15:189-93.
12. Song J, Medline A, Mason JB, Gallinger S, Kim YI. Effects of dietary folate on intestinal tumorigenesis in the apcMin mouse. Cancer Res 2000;60:5434-40.
13. Song J, Sohn KJ, Medline A, Ash C, Gallinger S, Kim YI. Chemopreventive effects of dietary folate on intestinal polyps in Apc+/-Msh2-/-mice. Cancer Res 2000;60:3191-9. (Pubitemid 30407916)
14. Charles D, Ness AR, Campbell D, Davey Smith G, Hall MH. Taking folate in pregnancy and risk of maternal breast cancer. BMJ 2004; 329:1375-6. (Pubitemid 39656357)
15. Cole BF, Baron JA, Sandler RS, et al. Folic acid for the prevention of colorectal adenomas: a randomized clinical trial. JAMA 2007;297: 2351-9.
16. Figueiredo JC, Grau MV, Haile RW, et al. Folic acid and risk of prostate cancer: results from a randomized clinical trial. J Natl Cancer Inst 2009;101:432-5.
17. Hirsch S, Sanchez H, Albala C, et al. Colon cancer in Chile before and after the start of the flour fortification program with folic acid. Eur J Gastroenterol Hepatol 2009;21:436-9.
18. Stolzenberg-Solomon RZ, Chang SC, Leitzmann MF, et al. Folate intake, alcohol use, and postmenopausal breast cancer risk in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial. Am J Clin Nutr 2006;83:895-904.
19. Mason JB, Dickstein A, Jacques PF, et al. A temporal association between folic acid fortification and an increase in colorectal cancer rates may be illuminating important biological principles: a hypothesis. Cancer Epidemiol Biomarkers Prev 2007;16:1325-9.
20. Xu X, Liu AY, Ulrich CM, Chen J. Folate and cancer: epidemiological perspecitve. New York: Taylor and Francis; 2009.
21. Levine AJ, Figueiredo JC, Lee W, et al. Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry. Cancer Epidemiol Biomarkers Prev 2010;19:89-100.
22. Figueiredo JC, Levine AJ, Lee WH, et al. Genes involved with folate uptake and distribution and their association with colorectal cancer risk. Cancer Causes Control 2010;21:597-608.
23. http://epi.grants.cancer.gov/CFR/.
24. Newcomb PA, Baron J, Cotterchio M, et al. Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer. Cancer Epidemiol Biomarkers Prev 2007; 16:2331-43.
25. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-5.
26. Shen R, Fan JB, Campbell D, et al. High-throughput SNP genotyping on universal bead arrays. Mutat Res 2005;573:70-82.
27. Stram DO, Hankin JH, Wilkens LR, et al. Calibration of the dietary questionnaire for a multiethnic cohort in Hawaii and Los Angeles. Am J Epidemiol 2000;151:358-70.
28. Conneely KN, Boehnke M. So many correlated tests, so little time! Rapid adjustement of P values for multiple correlated tests. Am J Hum Genet 2007;81:1158-68.
29. Banerjee D, Mayer-Kuckuk P, Capiaux G, Budak-Alpdogan T, Gorlick R, Bertino JR. Novel aspects of resistance to drugs targeted to dihydrofolate reductase and thymidylate synthase. Biochim Biophys Acta 2002;1587:164-73.
30. Bailey SW, Ayling JE. The extremely slow and variable activity of dihydrofolate reductase in human liver and its implications for high folic acid intake. Proc Natl Acad Sci U S A 2009;106:15424-9.
31. Parle-McDermott A, Pangilinan F, Mills JL, et al. The 19-bp deletion polymorphism in intron-1 of dihydrofolate reductase (DHFR) may decrease rather than increase risk for spina bifida in the Irish population. Am J Med Genet A 2007;143A:1174-80.
32. Xu X, Gammon MD, Wetmur JG, et al. A functional 19-base pair deletion polymorphism of dihydrofolate reductase (DHFR) and risk of breast cancer in multivitamin users. Am J Clin Nutr 2007;85: 1098-102.
33. Gellekink H, Blom HJ, van der Linden IJ, den Heijer M. Molecular genetic analysis of the human dihydrofolate reductase gene: relation with plasma total homocysteine, serum and red blood cell folate levels. Eur J Hum Genet 2007;15:103-9.
34. Stanislawska-Sachadyn A, Brown KS, Mitchell LE, et al. An insertion/ deletion polymorphism of the dihydrofolate reductase (DHFR) gene is associated with serum and red blood cell folate concentrations in women. Hum Genet 2008;123:289-95.
35. Kalmbach RD, Choumenkovitch SF, Troen AP, Jacques PF, D'Agostino R, Selhub J. A 19-base pair deletion polymorphism in dihydrofolate reductase is associated with increased unmetabolized folic acid in plasma and decreased red blood cell folate. J Nutr 2008;138:2323-7.
36. Curtin K, Slattery ML, Ulrich CM, et al. Genetic polymorphisms in one-carbon metabolism: associations with CpG island methylator phenotype (CIMP) in colon cancer and the modifying effects of diet. Carcinogenesis 2007;28:1672-9.
37. Dulucq S, St-Onge G, Gagne V, et al. DNA variants in the dihydrofolate reductase gene and outcome in childhood ALL. Blood 2008; 111:3692-700.
38. Goto Y, Yue L, Yokoi A, et al. A novel single-nucleotide polymorphism in the 3′-untranslated region of the human dihydrofolate reductase gene with enhanced expression. Clin Cancer Res 2001; 7:1952-6. (Pubitemid 32994830)
39. Lucock M. Folic acid: nutritional biochemistry, molecular biology, and role in disease processes. Mol Genet Metab 2000;71:121-38.
40. de Vogel S, Wouters KA, Gottschalk RW, et al. Genetic variants of methyl metabolizing enzymes and epigenetic regulators: associations with promoter CpG island hypermethylation in colorectal cancer. Cancer Epidemiol Biomarkers Prev 2009;18:3086-96.
41. Guerreiro CS, Carmona B, Goncalves S, et al. Risk of colorectal cancer associated with the C677T polymorphism in 5,10-methylene-tetrahydrofolate reductase in Portuguese patients depends on the intake of methyl-donor nutrients. Am J Clin Nutr 2008;88:1413-8.
42. Koushik A, Kraft P, Fuchs CS, et al. Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer. Cancer Epidemiol Biomarkers Prev 2006;15: 2408-17.
43. Le Marchand L, Wilkens LR, Kolonel LN, Henderson BE. The MTHFR C677T polymorphism and colorectal cancer: the multiethnic cohort study. Cancer Epidemiol Biomarkers Prev 2005;14:1198-203.
44. Ma J, Stampfer MJ, Christensen B, et al. A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk. Cancer Epidemiol Biomarkers Prev 1999;8:825-9.
45. Matsuo K, Ito H, Wakai K, et al. One-carbon metabolism related gene polymorphisms interact with alcohol drinking to influence the risk of colorectal cancer in Japan. Carcinogenesis 2005;26:2164-71.
46. Ulvik A, Vollset SE, Hansen S, Gislefoss R, Jellum E, Ueland PM. 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 cohort. Cancer Epidemiol Biomarkers Prev 2004;13:2175-80. (Pubitemid 40054314)
47. Yu K, Zhang J, Dou C, et al. Methionine synthase A2756G polymorphism and cancer risk: a meta-analysis. Eur J Hum Genet 2010;18:370-8.
48. Martinez ME, Thompson P, Jacobs ET, et al. Dietary factors and biomarkers involved in the methylenetetrahydrofolate reductase genotype-colorectal adenoma pathway. Gastroenterology 2006; 131:1706-16.
49. Chang SC, Lin PC, Lin JK, Yang SH, Wang HS, Li AF. Role of MTHFR polymorphisms and folate levels in different phenotypes of sporadic colorectal cancers. Int J Colorectal Dis 2007;22:483-9.
50. Chen J, Giovannucci E, Kelsey K, et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 1996;56:4862-4.
51. Curtin K, Bigler J, Slattery ML, Caan B, Potter JD, Ulrich CM. MTHFR C677T and A1298C polymorphisms: diet, estrogen, and risk of colon cancer. Cancer Epidemiol Biomarkers Prev 2004;13:285-92.
52. Jiang Q, Chen K, Ma X, et al. Diets, polymorphisms of methylene-tetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect Prev 2005;29:146-54.
53. Keku T, Millikan R, Worley K, et al. 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites. Cancer Epidemiol Biomarkers Prev 2002;11:1611-21.
54. Le Marchand L, Donlon T, Hankin JH, Kolonel LN, Wilkens LR, Seifried A. B-vitamin intake, metabolic genes, and colorectal cancer risk (United States). Cancer Causes Control 2002;13:239-48.
55. Ma J, Stampfer MJ, Giovannucci E, et al. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 1997;57:1098-102.
56. Matsuo K, Hamajima N, Hirai T, et al. Methionine synthase reductase gene A66G polymorphism is associated with risk of colorectal cancer. Asian Pac J Cancer Prev 2002;3:353-9.
57. Murtaugh MA, Curtin K, Sweeney C, et al. Dietary intake of folate and co-factors in folate metabolism, MTHFR polymorphisms, and reduced rectal cancer. Cancer Causes Control 2007;18:153-63.
58. Otani T, Iwasaki M, Hanaoka T, et al. Folate, vitamin B6, vitamin B12, and vitamin B2 intake, genetic polymorphisms of related enzymes, and risk of colorectal cancer in a hospital-based case-control study in Japan. Nutr Cancer 2005;53:42-50.
59. Sharp L, Little J, Brockton NT, et al. Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, intakes of folate and related B vitamins and colorectal cancer: a case-control study in a population with relatively low folate intake. Br J Nutr 2008; 99:379-89.
60. Slattery ML, Potter JD, Samowitz W, Schaffer D, Leppert M. Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol Biomarkers Prev 1999;8:513-8. (Pubitemid 29270335)
61. Steck SE, Keku T, Butler LM, et al. Polymorphisms in methionine synthase, methionine synthase reductase and serine hydroxymethyltransferase, folate and alcohol intake, and colon cancer risk. J Nutrigenet Nutrigenomics 2008;1:196-204.
62. Ulrich CM, Curtin K, Potter JD, Bigler J, Caan B, Slattery ML. Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer. Cancer Epidemiol Biomarkers Prev 2005;14:2509-16.
63. Van Guelpen B, Hultdin J, Johansson I, et al. Low folate levels may protect against colorectal cancer. Gut 2006;55:1461-6.
64. Yin G, Kono S, Toyomura K, et al. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and colorectal cancer: the Fukuoka Colorectal Cancer Study. Cancer Sci 2004;95:908-13.
65. Wang J, Gajalakshmi V, Jiang J, et al. Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: a case-control study in an Indian population. Int J Cancer 2006;118:991-7.
66. Yeung L, Yang Q, Berry RJ. Contributions of total daily intake of folic acid to serum folate concentrations. JAMA 2008;300:2486-7.
67. Dietrich M, Brown CJ, Block G. The effect of folate fortification of cereal-grain products on blood folate status, dietary folate intake, and dietary folate sources among adult non-supplement users in the United States. J Am Coll Nutr 2005;24:266-74. (Pubitemid 43193852)
68. Ganji V, Kafai MR. Trends in serum folate, RBC folate, and circulating total homocysteine concentrations in the United States: analysis of data from National Health and Nutrition Examination Surveys, 1988-1994, 1999-2000, and 2001-2002. J Nutr 2006;136:153-8.
69. Jacques PF, Selhub J, Bostom AG, Wilson PW, Rosenberg IH. The effect of folic acid fortification on plasma folate and total homocysteine concentrations. N Engl J Med 1999;340:1449-54.
70. Kelly P, McPartlin J, Goggins M, Weir DG, Scott JM. Unmetabolized folic acid in serum: acute studies in subjects consuming fortified food and supplements. Am J Clin Nutr 1997;65:1790-5.
71. Sweeney MR, Staines A, Daly L, et al. Persistent circulating unmetabolised folic acid in a setting of liberal voluntary folic acid fortification. Implications for further mandatory fortification? BMC Public Health 2009;9:295.
72. Kalmbach RD, Choumenkovitch SF, Troen AM, D'Agostino R, Jacques PF, Selhub J. Circulating folic acid in plasma: relation to folic acid fortification. Am J Clin Nutr 2008;88:763-8.
73. Troen AM, Mitchell B, Sorensen B, et al. Unmetabolized folic acid in plasma is associated with reduced natural killer cell cytotoxicity among postmenopausal women. J Nutr 2006;136:189-94.
74. Ashokkumar B, Mohammed ZM, Vaziri ND, Said HM. Effect of folate oversupplementation on folate uptake by human intestinal and renal epithelial cells. Am J Clin Nutr 2007;86:159-66.