Nonsynonymous polymorphisms in genes in the one-carbon metabolism pathway and associations with colorectal cancer

Cancer Epidemiology Biomarkers and Prevention

Volumn 15, Issue 12, 2006, Pages 2408-2417

  Koushik, Anita ^a   Kraft, Peter ^a   Fuchs, Charles S ^b   Hankinson, Susan E ^a,c   Willett, Walter C ^a,c   Giovannucci, Edward L ^a,c   Hunter, David J ^a,c,d  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b DANA FARBER CANCER INSTITUTE   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d CHANNING LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; BETAINE DERIVATIVE; BETAINE HYDROXYMETHYLTRANSFERASE; CYSTEINE; GLUTAMINE; METHIONINE SYNTHASE REDUCTASE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE; SERINE; THREONINE; TRANSCOBALAMIN II; UNCLASSIFIED DRUG; VALINE; VITAMIN B COMPLEX;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CANCER RISK; CARBON METABOLISM; COLORECTAL CANCER; CONTROLLED STUDY; DEMOGRAPHY; DIETARY INTAKE; DNA METHYLATION; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN INTAKE;

ADULT; BIOSYNTHETIC PATHWAYS; CASE-CONTROL STUDIES; COLORECTAL NEOPLASMS; DIET; DNA METHYLATION; FEMALE; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 33846018546     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-06-0624     Document Type: Article

References (62)

1. Eichholzer M, Luthy J, Moser U, Fowler B. Folate and the risk of colorectal, breast and cervix cancer: the epidemiological evidence. Swiss Med Wkly 2001;131:539-49.
2. Sanjoaquin MA, Allen N, Couto E, Roddam AW, Key TJ. Folate intake and colorectal cancer risk: a meta-analytical approach. Int J Cancer 2005;113:825-8.
3. Groff JL, Cropper SS. Advanced nutrition and human metabolism. Belmont (CA): Wadsworth; 2000.
4. 12 in health and disease. Nutr Rev 2004;62:S3-12.
5. Choi SW, Mason JB. Folate status: effects on pathways of colorectal carcinogenesis. J Nutr 2002;132:2413-8S.
6. Halsted CH, Villanueva JA, Devlin AM, Chandler CJ. Metabolic interactions of alcohol and folate. J Nutr 2002;132:2367-72S.
7. Giovannucci E. Alcohol, one-carbon metabolism, and colorectal cancer: recent insights from molecular studies. J Nutr 2004;134:2475-81S.
8. Cho E, Smith-Warner SA, Ritz J, et al. Alcohol intake and colorectal cancer: a pooled analysis of 8 cohort studies. Ann Intern Med 2004;140:603-13.
9. Giovannucci E. Epidemiologic studies of folate and colorectal neoplasia: a review. J Nutr 2002;132:2350-5S.
10. Chen J, Giovannucci E, Kelsey K, et al. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 1996;56:4862-4.
11. Kono S, Chen K. Genetic polymorphisms of methylenetetrahydrofolate reductase and colorectal cancer and adenoma. Cancer Sci 2005;96:535-42.
12. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995;10:111-3.
13. Sharp L, Little J. Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am J Epidemiol 2004;159:423-43.
14. Chen J, Giovannucci E, Hankinson SE, et al. A prospective study of methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms, and risk of colorectal adenoma. Carcinogenesis 1998;19:2129-32.
15. Giovannucci E, Chen J, Smith-Warner SA, et al. Methylenetetrahydrofolate reductase, alcohol dehydrogenase, diet, and risk of colorectal adenomas. Cancer Epidemiol Biomarkers Prev 2003;12:970-9.
16. Tranah GJ, Giovannucci E, Ma J, Fuchs C, Hunter DJ. APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma. Cancer Epidemiol Biomarkers Prev 2005;14:863-70.
17. Wei EK, Giovannucci E, Fuchs CS, Willett WC, Mantzoros CS. Low plasma adiponectin levels and risk of colorectal cancer in men: a prospective study. J Natl Cancer Inst 2005;97:1688-94.
18. Devlin AM, Ling EH, Peerson JM, et al. Glutamate carboxypeptidase II: a polymorphism associated with lower levels of serum folate and hyperhomocysteinemia. Hum Mol Genet 2000;9:2837-44.
19. Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3894-900.
20. Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-4.
21. Livak KJ. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal 1999;14:143-9.
22. SAS/Genetics User's Guide. Cary: SAS Institute, Inc.; 2002.
23. Kraft P, Cox DG, Paynter RA, Hunter D, De Vivo I. Accounting for haplotype uncertainty in matched association studies: a comparison of simple and flexible techniques. Genet Epidemiol 2005;28:261-72.
24. Giovannucci E, Stampfer MJ, Colditz GA, et al. Multivitamin use, folate, and colon cancer in women in the Nurses' Health Study. Ann Intern Med 1998;129:517-24.
25. Kim YI. Role of folate in colon cancer development and progression. J Nutr 2003;133:3731-9S.
26. Marchini J, Donnelly P, Cardon LR. Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 2005;37:413-7.
27. 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.
28. Park KS, Mok JW, Kim JC. The 677C > T mutation in 5,10- methylenetetrahydrofolate reductase and colorectal cancer risk. Genet Test 1999;3:233-6.
29. Delgado-Enciso I, Martinez-Garza SG, Rojas-Martinez A, et al. 677T mutation of the MTHFR gene in adenomas and colorectal cancer in a population sample from the Northeastern Mexico. Preliminary results. Rev Gastroenterol Mex 2001;66:32-7.
30. Shannon B, Gnanasampanthan S, Beilby J, Iacopetta B. A polymorphism in the methylenetetrahydrofolate reductase gene predisposes to colorectal cancers with microsatellite instability. Gut 2002;50:520-4.
31. 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.
32. 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.
33. Sachse C, Smith G, Wilkie MJ, et al. A pharmacogenetic study to investigate the role of dietary carcinogens in the etiology of colorectal cancer. Carcinogenesis 2002;23:1839-49.
34. 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.
35. Plaschke J, Schwanebeck U, Pistorius S, Saeger HD, Schackert HK. Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability. Cancer Lett 2003;191:179-85.
36. Toffoli G, Gafa R, Russo A, et al. Methylenetetrahydrofolate reductase 677 C Ä T polymorphism and risk of proximal colon cancer in north Italy. Clin Cancer Res 2003;9:743-8.
37. Pufulete M, Al-Ghnaniem R, Leather AJ, et al. Folate status, genomic DNA hypomethylation, and risk of colorectal adenoma and cancer: a case control study. Gastroenterology 2003;124:1240-8.
38. Ulvik A, Vollset SE, Hansen S, Gislefoss R, Jellum E, Ueland PM. Colorectal cancer and the methylenetetrahydrofolate reductase 677C Ä T and methionine synthase 2756A Ä G polymorphisms: a study of 2,168 case-control pairs from the JANUS cohort. Cancer Epidemiol Biomarkers Prev 2004;13:2175-80.
39. Jiang QT, Chen K, Ma XY, et al. A case-control study on the polymorphisms of methylenetetrahydrofolate reductases, drinking interaction and susceptibility in colorectal cancer. Zhonghua Liu Xing Bing Xue Za Zhi 2004;25:612-6.
40. Kim DH, Ahn YO, Lee BH, Tsuji E, Kiyohara C, Kono S. Methylenetetrahydrofolate reductase polymorphism, alcohol intake, and risks of colon and rectal cancers in Korea. Cancer Lett 2004;216:199-205.
41. 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.
42. 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.
43. 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.
44. 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.
45. 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.
46. Ma J, Stampfer MJ, Giovannucci E, et al. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 1997;57:1098-102.
47. Jiang Q, Chen K, Ma X, et al. Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect Prev 2005;29:146-54.
48. 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.
49. Ueland PM, Holm PI, Hustad S. Betaine: a key modulator of one-carbon metabolism and homocysteine status. Clin Chem Lab Med 2005;43:1069-75.
50. Heil SG, Lievers KJ, Boers GH, et al. Betaine-homocysteine methyltransferase (BHMT): genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans. Mol Genet Metab 2000;71:511-9.
51. Weisberg IS, Park E, Ballman KV, et al. Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. Atherosclerosis 2003;167:205-14.
52. Morin I, Platt R, Weisberg I, et al. Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida. Am J Med Genet A 2003;119:172-6.
53. Zhu H, Curry S, Wen S, et al. Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? Am J Med Genet A 2005;135:274-7.
54. Chen J, Ma J, Stampfer MJ, Palomeque C, Selhub J, Hunter DJ. Linkage disequilibrium between the 677C>T and 1298A>C polymorphisms in human methylenetetrahydrofolate reductase gene and their contributions to risk of colorectal cancer. Pharmacogenetics 2002;12:339-42.
55. 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.
56. 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.
57. Chen J, Kyte C, Valcin M, et al. Polymorphisms in the one-carbon metabolic pathway, plasma folate levels and colorectal cancer in a prospective study. Int J Cancer 2004;110:617-20.
58. von Castel-Dunwoody KM, Kauwell GP, Shelnutt KP, et al. Transcobalamin 776C → G polymorphism negatively affects vitamin B-12 metabolism. Am J Clin Nutr 2005;81:1436-41.
59. Afman LA, Lievers KJ, van der Put NM, Trijbels FJ, Blom HJ. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural rube defects. Eur J Hum Genet 2002;10:433-8.
60. Miller JW, Ramos MI, Garrod MG, Flynn MA, Green R. Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 2002;100:718-20.
61. Ulrich CM, Nijhout HF, Reed MC. Mathematical modeling: epidemiology meets systems biology. Cancer Epidemiol Biomarkers Prev 2006;15:827-9.
62. Nijhout HF, Reed MC, Anderson DF, Mattingly JC, James SJ, Ulrich CM. Long-range allosteric interactions between the folate and methioinine cycles stabilize DNA methylation reaction rate. Epigenetics 2006;1:81-7.