Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population

American Journal of Clinical Nutrition

Volumn 89, Issue 6, 2009, Pages 1927-1936

  Chanson, Aurelie ^a   Parnell, Laurence D ^a   Ciappio, Eric D ^b   Liu, Zhenhua ^a   Crott, Jimmy W ^a   Tucker, Katherine L ^a   Mason, Joel B ^a  

^a TUFTS UNIVERSITY   (United States)

^b TUFTS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYANOCOBALAMIN; DNA; FOLIC ACID; PROTEIN P53; PYRIDOXINE; RIBOFLAVIN; THYMINE DNA GLYCOSYLASE; UNCLASSIFIED DRUG; URACIL; URACIL DNA GLYCOSIDASE; URIDINE TRIPHOSPHATASE; VITAMIN B COMPLEX;

ADULT; AGED; ALCOHOL CONSUMPTION; ARTICLE; CANCER RISK; DNA STRAND BREAKAGE; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PUERTO RICO; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; TUMOR SUPPRESSOR GENE; URBAN POPULATION; BLOOD; CHEMISTRY; DNA DAMAGE; DNA REPAIR; GENE; GENE FREQUENCY; GENETIC PREDISPOSITION; HISPANIC; METABOLISM; MIDDLE AGED; SEX DIFFERENCE;

AGED; DNA; DNA DAMAGE; DNA REPAIR; FEMALE; GENE FREQUENCY; GENES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISPANIC AMERICANS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS; URACIL; VITAMIN B COMPLEX;

EID: 66849141266     PISSN: 00029165     EISSN: None     Source Type: Journal    
DOI: 10.3945/ajcn.2009.27429     Document Type: Article

References (59)

1. Mohrenweiser HW, Jones IM. Variation in DNA repair is a factor in cancer susceptibility: a paradigm for the promises and perils of individual and population risk estimation? Mutat Res 1998;400:15-24.
2. Hung RJ, Hall J, Brennan P, Boffetta P. Genetic polymorphisms in the base excision repair pathway and cancer risk: a HuGE review. Am J Epidemiol 2005;162:925-942 (Pubitemid 41619464)
3. Goode EL, Ulrich CM, Potter JD. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 2002;11:1513-1530 (Pubitemid 36020002)
4. Barnes DE, Lindahl T. Repair and genetic consequences of endogenous DNA base damage in mammalian cells. Annu Rev Genet 2004;38:445-476 (Pubitemid 40013735)
5. Dianov GL, Timchenko TV, Sinitsina OI, Kuzminov AV, Medvedev OA, Salganik RI. Repair of uracil residues closely spaced on the opposite strands of plasmid DNA results in double-strand break and deletion formation. Mol Gen Genet 1991;225:448-452
6. Moynahan ME, Jasin M. Loss of heterozygosity induced by a chromosomal double-strand break. Proc Natl Acad Sci USA 1997;94:8988-8993 (Pubitemid 27357769)
7. Elliott B, Jasin M. Double-strand breaks and translocations in cancer. Cell Mol Life Sci 2002;59:373-385
8. Kim YI, Shirwadkar S, Choi SW, Puchyr M, Wang Y, Mason JB. Effects of dietary folate on DNA strand breaks within mutation-prone exons of the p53 gene in rat colon. Gastroenterology 2000;119:151-161 (Pubitemid 30452588)
9. Liu Z, Choi SW, Crott JW, et al. Mild depletion of dietary folate combined with other B vitamins alters multiple components of the Wnt pathway in mouse colon. J Nutr 2007;137:2701-2708 (Pubitemid 350255301)
10. Shin MC, Lee SJ, Choi JE, et al. Glu346Lys polymorphism in the methyl-CpG binding domain 4 gene and the risk of primary lung cancer. Jpn J Clin Oncol 2006;36:483-488 (Pubitemid 44592675)
11. Miao R, Gu H, Liu H, et al. Tagging single nucleotide polymorphisms in MBD4 are associated with risk of lung cancer in a Chinese population. Lung Cancer 2008;62:281-286
12. Hao B, Wang H, Zhou K, et al. Identification of genetic variants in base excision repair pathway and their associations with risk of esophageal squamous cell carcinoma. Cancer Res 2004;64:4378-4384 (Pubitemid 38802447)
13. Crott JW, Mashiyama ST, Ames BN, Fenech M. The effect of folic acid deficiency and MTHFR C677T polymorphism on chromosome damage in human lymphocytes in vitro. Cancer Epidemiol Biomarkers Prev 2001;10:1089-1096 (Pubitemid 32959157)
14. 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 USA 1997;94:3290-3295 (Pubitemid 27157304)
15. Duthie SJ, Grant G, Narayanan S. Increased uracil misincorporation in lymphocytes from folate-deficient rats. Br J Cancer 2000;83:1532-1537
16. Linhart HG, Troen A, Bell GW, et al. Folate deficiency induces genomic uracil misincorporation and hypomethylation but does not increase DNA point mutations. Gastroenterology 2009;136:227-235.e3.
17. Choi SW, Friso S, Ghandour H, Bagley PJ, Selhub J, Mason JB. Vitamin B-12 deficiency induces anomalies of base substitution and methylation in the DNA of rat colonic epithelium. J Nutr 2004;134:750-755 (Pubitemid 38456239)
18. Mason JB, Choi SW. Effects of alcohol on folate metabolism: implications for carcinogenesis. Alcohol 2005;35:235-241 (Pubitemid 41079925)
19. Gabriel HE, Crott JW, Ghandour H, et al. Chronic cigarette smoking is associated with diminished folate status, altered folate form distribution, and increased genetic damage in the buccal mucosa of healthy adults. Am J Clin Nutr 2006;83:835-841 (Pubitemid 44713148)
20. Choi SW, Mason JB. Folate and carcinogenesis: an integrated scheme. J Nutr 2000;130:129-132
21. Giovannucci E. Epidemiologic studies of folate and colorectal neoplasia: a review. J Nutr 2002;132:2350S-5S. (Pubitemid 34848106)
22. Zhang SM, Willett WC, Selhub J, et al. Plasma folate, vitamin B6, vitamin B12, homocysteine, and risk of breast cancer. J Natl Cancer Inst 2003;95:373-380
23. Rohan TE, Jain MG, Howe GR, Miller AB. Dietary folate consumption and breast cancer risk. J Natl Cancer Inst 2000;92:266-269 (Pubitemid 30099787)
24. Baglietto L, English DR, Gertig DM, Hopper JL, Giles GG. Does dietary folate intake modify effect of alcohol consumption on breast cancer risk? Prospective cohort study. BMJ 2005;331:807. (Pubitemid 41442359)
25. Weinstein SJ, Albanes D, Selhub J, et al. One-carbon metabolism biomarkers and risk of colon and rectal cancers. Cancer Epidemiol Biomarkers Prev 2008;17:3233-3240
26. Lin J, Lee IM, Cook NR, et al. Plasma folate, vitamin B-6, vitamin B-12, and risk of breast cancer in women. Am J Clin Nutr 2008;87:734-743
27. Paspatis GA, Karamanolis DG. Folate supplementation and adenomatous colonic polyps. Dis Colon Rectum 1994;37:1340-1341
28. Cole BF, Baron JA, Sandler RS, et al. Folic acid for the prevention of colorectal adenomas: a randomized clinical trial. JAMA 2007;297:2351-2359 (Pubitemid 46883748)
29. Logan RF, Grainge MJ, Shepherd VC, Armitage NC, Muir KR. Aspirin and folic acid for the prevention of recurrent colorectal adenomas. Gastroenterology 2008;134:29-38. (Pubitemid 350309319)
30. Jaszewski R, Misra S, Tobi M, et al. Folic acid supplementation inhibits recurrence of colorectal adenomas: a randomized chemoprevention trial. World J Gastroenterol 2008;14:4492-4498
31. Ulrich CM, Potter JD. Folate and cancer-timing is everything. JAMA 2007;297:2408-2409
32. Han J, Hankinson SE, Zhang SM, De Vivo I, Hunter DJ. Interaction between genetic variations in DNA repair genes and plasma folate on breast cancer risk. Cancer Epidemiol Biomarkers Prev 2004;13:520-524 (Pubitemid 38737885)
33. Tucker KL. Stress and nutrition in relation to excess development of chronic disease in Puerto Rican adults living in the Northeastern USA. J Med Invest 2005;52(suppl):252-258
34. Tucker KL, Bianchi LA, Maras J, Bermudez OI. Adaptation of a food frequency questionnaire to assess diets of Puerto Rican and non-Hispanic adults. Am J Epidemiol 1998;148:507-518 (Pubitemid 28411108)
35. Choudhry S, Coyle NE, Tang H, et al. Population stratification confounds genetic association studies among Latinos. Hum Genet 2006;118:652-664 (Pubitemid 41825137)
36. The International HapMap Consortium. A haplotype map of the human genome. Nature 2005;437:1299-1320
37. Internation HapMap Project. Homepage. Available from: http://www.hapmap.org (cited June 2008).
38. de Bakker PI, Yelensky R, Pe'er I, Gabriel SB, Daly MJ, Altshuler D. Efficiency and power in genetic association studies. Nat Genet 2005;37:1217-1223
39. Marinescu VD, Kohane IS, Riva A. The MAPPER database: a multi-genome catalog of putative transcription factor binding sites. Nucleic Acids Res 2005;33:D91-7. (Pubitemid 40207837)
40. Lai CQ, Tucker KL, Parnell LD, et al. PPARGC1A variation associated with DNA damage, diabetes, and cardiovascular diseases: the Boston Puerto Rican Health Study. Diabetes 2008;57:809-816
41. Bethke L, Murray A, Webb E, et al. Comprehensive analysis of DNA repair gene variants and risk of meningioma. J Natl Cancer Inst 2008;100:270-276
42. Voight BF, Kudaravalli S,Wen X, Pritchard JK. A map of recent positive selection in the human genome. PLoS Biol 2006;4:e72.
43. Livak KJ. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay. Genet Anal 1999;14:143-149
44. Camp VM, Chipponi J, Faraj BA. Radioenzymatic assay for direct measurement of plasma pyridoxal 5′-phosphate. Clin Chem 1983;29:642-644
45. Araki A, Sako Y. Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection. J Chromatogr 1987;422:43-52.
46. Blount BC, Ames BN. Analysis of uracil in DNA by gas chromatography-mass spectrometry. Anal Biochem 1994;219:195-200. (Pubitemid 24206797)
47. Mashiyama ST, Courtemanche C, Elson-Schwab I, et al. Uracil in DNA, determined by an improved assay, is increased when deoxynucleosides are added to folate-deficient cultured human lymphocytes. Anal Biochem 2004;330:58-69. (Pubitemid 38746975)
48. Pogribny IP, Basnakian AG, Miller BJ, Lopatina NG, Poirier LA, James SJ. Breaks in genomic DNA and within the p53 gene are associated with hypomethylation in livers of folate/methyl-deficient rats. Cancer Res 1995;55:1894-1901
49. Crott JW, Liu Z, Choi SW, Mason JB. Folate depletion in human lymphocytes up-regulates p53 expression despite marked induction of strand breaks in exons 5-8 of the gene. Mutat Res 2007;626:171-179 (Pubitemid 44881413)
50. Lai CQ, Tucker KL, Choudhry S, et al. Population admixture associated with disease prevalence in the Boston Puerto Rican Health Study. Hum Genet 2009;125:199-209.
51. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005;21:263-265 (Pubitemid 40202029)
52. Selhub J, Jacques PF, Wilson PW, Rush D, Rosenberg IH. Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. JAMA 1993;270:2693-2698 (Pubitemid 23350966)
53. Tucker KL, Rich S, Rosenberg I, et al. Plasma vitamin B-12 concentrations relate to intake source in the Framingham Offspring study. Am J Clin Nutr 2000;71:514-522 (Pubitemid 30061231)
54. Haller J, Lowik MR, Ferry M, Ferro-Luzzi A. Nutritional status: blood vitamins A, E, B6, B12, folic acid and carotene. Euronut SENECA investigators. Eur J Clin Nutr 1991;45(suppl 3):63-82.
55. Ren J, Ulvik A, Refsum H, Ueland PM. Uracil in human DNA from subjects with normal and impaired folate status as determined by high-performance liquid chromatography-tandem mass spectrometry. Anal Chem 2002;74:295-299 (Pubitemid 34044458)
56. Crott JW, Mashiyama ST, Ames BN, Fenech MF. Methylenetetrahydrofolate reductase C677T polymorphism does not alter folic acid deficiency-induced uracil incorporation into primary human lymphocyte DNA in vitro. Carcinogenesis 2001;22:1019-1025
57. Kapiszewska M, Kalemba M, Wojciech U, Milewicz T. Uracil mis-incorporation into DNA of leukocytes of young women with positive folate balance depends on plasma vitamin B12 concentrations and methylenetetrahydrofolate reductase polymorphisms: a pilot study. J Nutr Biochem 2005;16:467-478 (Pubitemid 41039221)
58. Narayanan S, McConnell J, Little J, et al. 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 2004;13:1436-1443 (Pubitemid 39202309)
59. Pfeiffer CM, Johnson CL, Jain RB, et al. Trends in blood folate and vitamin B-12 concentrations in the United States, 1988 2004. Am J Clin Nutr 2007;86:718-727