Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations

American Journal of Clinical Nutrition

Volumn 88, Issue 4, 2008, Pages 1149-1158

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

^a PENNSYLVANIA STATE UNIVERSITY   (United States)

^b TUFTS UNIVERSITY   (United States)

^c TUFTS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FOLIC ACID; FOLYLPOLYGLUTAMATE SYNTHASE; GAMMA GLUTAMYL HYDROLASE; HOMOCYSTEINE; METHIONINE SYNTHASE; METHYLENETETRAHYDROFOLIC ACID; REDUCED FOLATE CARRIER; THYMIDINE; URACIL;

ADULT; AGED; ALLELE; ARTICLE; CARCINOGENESIS; COHORT ANALYSIS; COLORECTAL CANCER; CONTROLLED STUDY; FEMALE; FOLATE METABOLISM; FOLIC ACID BLOOD LEVEL; GENE; GENETICS; GENOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PROTON COUPLED FOLATE TRANSPORTER GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 53849121261     PISSN: 00029165     EISSN: None     Source Type: Journal    
DOI: 10.1093/ajcn/88.4.1149     Document Type: Article

References (51)

1. Kang S-S, Wong PWK, Norusis M. Homocysteinemia due to folate deficiency. Metabolism 1987;36:458-62.
2. Eskes TK. From anemia to spina bifida-the story of folic acid. A tribute to Professor Richard Smithells. Eur J Obstet Gynecol Reprod Biol 2000; 90:119-23.
3. Giovannucci E, Rimm EB, Ascherio A, Stampfer MJ, Colditz GA, Willett WC. Alcohol, low-methionine-low-folate diets, and risk of colon cancer in men. J Natl Cancer Inst 1995;87:265-73.
4. Beilby J, Ingram D, Hahnel R, Rossi E. Reduced breast cancer risk with increasing serum folate in a case-control study of the C677T genotype of the methylenetetrahydrofolate reductase gene. Eur J Cancer 2004;40: 1250-4.
5. Hernandez BY, McDuffie K, Wilkens LR, Kamemoto L, Goodman MT. Diet and premalignant lesions of the cervix: evidence of aprotective role for folate, riboflavin, thiamin, and vitamin B12. Cancer Causes Control 2003;14:859-70.
6. Voorrips LE, Goldbohm RA, Brants HA, van Poppel GA, Sturmans F, Hermus RJ, van den Brandt PA. A prospective cohort study on antioxidant and folate intake and male lung cancer risk. Cancer Epidemiol Biomarkers Prev 2000;9:357-65.
7. 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.
8. Cole BF, Baron JA, Sandier RS, et al. Folic acid for the prevention of colorectal adenomas: a randomized clinical trial. JAMA 2007;297:2351-9.
9. 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;10:1089-96.
10. 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;22:1019-25.
11. Qiu A, Jansen M, Sakaris A, et al. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell 2006;127:917-28.
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. Bagley PJ, 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 1998;95: 13217-20.
14. 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.
15. Devlin AM, Clarke R, Birks J, Evans JG, Halsted CH. Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population. Am J Clin Nutr 2006;83:708-13.
16. Vargas-Martinez C, Ordovas JM, Wilson PW, Selhub J. The glutamate carboxypeptidase gene II (C>T) polymorphism does not affect folate status in the Framingham Offspring cohort. J Nutr 2002;132:1176-9.
17. Lievers KJ, Kluijtmans LA, Boers GH, et al. Influence of a glutamate carboxypeptidase II (GCPII) polymorphism (1561C->T) on plasma homocysteine, folate and vitamin B(12) levels and its relationship to cardiovascular disease risk. Atherosclerosis 2002;164:269-73.
18. Winkelmayer WC, Eberle C, Sunder-Plassmann G, Fodinger M. Effects of the glutamate carboxypeptidase II (GCP2 1561C>T) and reduced folate carrier (RFC1 80G>A) allelic variants on folate and total homocysteine levels in kidney transplant patients. Kidney Int 2003;63:2280-5.
19. Chango A, Emery-Fillon N, de Courcy GP, et al. A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab 2000;70:310-5.
20. Chave KJ, Ryan TJ, Chmura SE, Galivan J. Identification of single nucleotide polymorphisms in the human gamma-glutamyl hydrolase gene and characterization of promoter polymorphisms. Gene 2003;319: 167-75.
21. 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):252-8.
22. 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;148:507-18.
23. International HapMap Consortium A haplotype map of the human genome. Nature 2005;437:1299-320.
24. International HapMap Project. Homepage. Available from: http://www.hapmap.org (cited June 2007).
25. Marinescu VD, Kohane IS, Riva A. MAPPER: a search engine for the computational identification of putative transcription factor binding sites in multiple genomes. BMC Bioinformatics 2005;6:79.
26. GeneBee. Homepage. Available from: http://www.genebee.msu.su/genebee.html (cited June 2007).
27. PolyPhen: prediction of functional effects of human nsSNPs. Available from: http://genetics.bwh.harvard.edu/pph (cited June 2007).
28. Smit A, Hubley R, Green P. Repeat Masker Open-3.0. 1996-2004. Available from: http://www.repeatmasker.org (cited).
29. van der Put NMJ, Gabreels F, Stevens EMB, et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects'? Am J Hum Genet 1998;62:1044-51.
30. Friedman G, Goldschmidt N, Friedlander Y, et al. A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations. J Nutr 1999;129:1656-61.
31. Jacques PF, Kalmbach R, Bagley PJ, et al. The relationship between riboflavin and plasma total homocysteine in the Framingham Offspring cohort is influenced by folate status and the C677T transition in the methylenetetrahydrofolate reductase gene. J Nutr 2002;132:283-8.
32. 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.
33. 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.
34. Camp VM, Chipponi J, Faraj BA. Radioenzymatic assay for direct measurement of plasma pyridoxal 5′-phosphate. Clin Chem 1983;29:642-4.
35. Soldin SJ, Wan BS, Cherian AG. The measurement of creatinine: a comparison between the Beckman Creatinine Analyzer II and the Selective Analyzer GSA IID. Clin Biochem 1981;14:165-8.
36. Blount BC, Ames BN. Analysis of uracil in DNA by gas chromatographymass spectrometry. Anal Biochem 1994;219:195-200.
37. 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.
38. 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.
39. Linnebank M, Homberger A, Nowak-Gottl U, Marquardt T, Harms E, Koch HG. Linkage disequilibrium of the common mutations 677C > T and 1298A > C of the human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C > T, 1068C > T. Eur J Pediatr 2000; 159:472-3(letter).
40. Larsson SC, Giovannucci E, Wolk A. A prospective study of dietary folate intake and risk of colorectal cancer: modification by caffeine intake and cigarette smoking. Cancer Epidemiol Biomarkers Prev 2005; 14:740-3.
41. Pitkin RM. Folate and neural tube defects. Am J Clin Nutr 2007; 85(suppl):285S-8S.
42. Shai I, Stampfer MJ, Ma J, et al. Homocysteine as a risk factor for coronary heart diseases and its association with inflammatory biomarkers, lipids and dietary factors. Atherosclerosis 2004;177:375-81.
43. Refsum H, Nurk E, Smith AD, et al. The Hordaland Homocysteine Study: a community-based study of homocysteine, its determinants, and associations with disease. J Nutr 2006;136(suppl):1731S-40S.
44. Hustad S, Ueland PM, Vollset SE, Zhang Y, Bjorke-Monsen AL, Schneede J. Riboflavin as a determinant of plasma total homocysteine: effect modification by the methylenetetrahydrofolate reductase C677T polymorphism. Clin Chem 2000;46:1065-71.
45. 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; 13:1436-43.
46. Bailey LB, Duhaney RL, Maneval DR, et al. Vitamin B-12 status is inversely associated with plasma homocysteine in young women with C677T and/or A1298C methylenetetrahydrofolate reductase polymorphisms. J Nutr 2002;132:1872-8.
47. Dervieux T, Kremer J, Lein DO, et al. Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis. Pharmacogenetics 2004; 14:733-9.
48. Duthie SJ, Hawdon A. DNA instability (strand breakage, uracil misincorporation, and defective repair) is increased by folic acid depletion in human lymphocytes in vitro. FASEB J 1998;12:1491-7.
49. Hagmar L, Bonassi S, Stromberg U, et al. Chromosomal aberrations in lymphocytes predict human cancer: a report from the European Study Group on Cytogenetic Biomarkers and Health (ESCH). Cancer Res 1998;58:4117-21.
50. Green JM, MacKenzie RE, Matthews RG. Substrate flux through methylenetetrahydrofolate dehydrogenase: predicted effects of the concentration of methylenetetrahydrofolate in its partitioning into pathways leading to nucleotide biosynthesis or methionine regeneration. Biochemistry 1988;27:8014-22,
51. Davis SR, Quinlivan EP, Shelnutt KP, et al. The methylenetetrahydrofolate reductase 677C->T polymorphism and dietary folate restriction affect plasma one-carbon metabolites and red blood cell folate concentrations and distribution in women. J Nutr 2005;135:1040-4.