Polymorphisms of folate pathway enzymes (methylenetetrahydrofolate reductase and thymidylate synthase) and their relationship with thymidylate synthase expression in human astrocytic tumors

DNA and Cell Biology

Volumn 31, Issue 1, 2012, Pages 57-66

  Da Costa, Débora Menezes ^a   De Lima, Germano Paulo Venceslau ^a   Faria, Mário Henrique Girão ^a   Rabenhorst, Silvia Helena Barem ^a  

^a FEDERAL UNIVERSITY OF CEARÁ   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); THYMIDYLATE SYNTHASE;

ARTICLE; CANCER GRADING; CONTROLLED STUDY; DNA METHYLATION; DNA POLYMORPHISM; DNA REPAIR; ENHANCER REGION; GENE EXPRESSION; GENE FREQUENCY; GENOTYPE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; PILOCYTIC ASTROCYTOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TANDEM REPEAT;

ASTROCYTOMA; CASE-CONTROL STUDIES; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); ODDS RATIO; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; THYMIDYLATE SYNTHASE;

EID: 84855427460     PISSN: 10445498     EISSN: 15577430     Source Type: Journal    
DOI: 10.1089/dna.2011.1273     Document Type: Article

References (56)

1. Bethke, L., Webb, E., Murray, A., Schoemaker, M., Feychting, M., Lönn, S., Ahlbom, A., Malmer, B., Henriksson, R., Auvinen, A., Kiuru, A., Salminen, T., Johansen, C., Christensen, H.C., Muir, K., McKinney, P., Hepworth, S., Dimitropoulou, P., Lophatananon, A., Swerdlow, A., and Houlston, R. (2008). Functional polymorphisms in folate metabolism genes influence the risk of meningioma and glioma. Cancer Epidemiol Biomarkers Prev 17, 1195-1202.
2. Blomeke, B., Bennett, W.P., Harris, C.C., and Shields, P.G. (1997). Serum, plasma and paraffinembedded tissues as sources of DNA for studying cancer susceptibility genes. Carcinogenesis 18, 1271-1275. (Pubitemid 28132521)
3. Blount, B.C., and Ames, B.N. (1994). Analysis of uracil in DNA by gas chromatography-mass spectrometry. Anal Biochem 219, 195-200. (Pubitemid 24206797)
4. Blount, B.C., Mack, M.M., Wehr, C.M., Mac Gregor, J.T., Hiatt, R.A., Wang, G., Wickramasinghe, S.N., Everson, R.B., and Ames, B.N. (1997). Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage. Proc Natl Acad Sci USA 94, 3290-3295.
5. Brandalize, A.P.C., Bandinelli, E., Borba, J.B., Félix, T.M., Roisenberg, I., and Schüler-Faccini, L. (2007). Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. Braz J Med Biol Res 40, 787-791. (Pubitemid 47009454)
6. Cadieux, B., Ching, T., Vandenberg, S.R., and Costello, J.F. (2006). Genome-wide hypomethylation in human glioblastomas associated with specific copy number alteration, methylenetetrahydrofolate reductase allele status, and increased proliferation. Cancer Res 1, 8469-8473.
7. Castro, R., Rivera, I., Ravasco, P., Jakobs, C., Blom, H.J., Camilo, M.E., and de Almeida, I.T. (2003). 5, 10-Methylenetetrahydrofolate reductase 677CT and 1298AC mutations are genetic determinants of elevated homocysteine. Q J Med 96, 297-303. (Pubitemid 36432389)
8. Chen, J., Hunter, D.J., Stampfer, M.J., Kyte, C., Chan, W., Wetmur, J.G., Mosig, R., Selhub, J., and Ma, J. (2003). Polymorphism in the thymidylate synthase promoter enhancer region modifies the risk and survival of colorectal cancer. Cancer Epidemiol Biomarkers Prev 12, 958-962. (Pubitemid 37310249)
9. Chung, C.J., Pu, Y.S., Su, C.T., Chen, H.W., Huang, Y.K., Shiue, H.S., and Hsueh, Y.M. (2010). Polymorphisms in one-carbon metabolism pathway genes, urinary arsenic profile, and urothelial carcinoma. Cancer Causes Control 21, 1605-1613.
10. Clarke, J., Butowski, N., and Chang, S. (2010). Recent advances in therapy for glioblastoma. Arch Neurol 67, 279-283.
11. Collins, V.P. (2004). Brain tumours: classification and genes. J Neurol Neurosurg Psychiatry 75, 2-11.
12. Cui, L., Shin, M.H., Kweon, S.S., Kim, H.N., Song, H.R., Piao, J.M., Choi, J.S., Shim, H.J., Hwang, J.E., Kim, H.R., Park, Y.K., and Kim, S.H. (2010). Methylenetetrahydrofolate reductase C677T polymorphism in patients with gastric and colorectal cancer in a Korean population. BMC Cancer 10, 2362-2368.
13. Dumitrescu, R.G., and Cotarla, I. (2005). Understanding breast cancer risk-where do we stand in 2005?. J Cell Mol Med 9, 208-221.
14. Duthie, S.J. (2010). Folate and cancer: how DNA damage, repair and methylation impact on colon carcinogenesis. J Inherit Metab Dis 34, 101-109.
15. Etienne, M-C., Chazal, M., Laurent-Puig, P., Magné, N., Rosty, C., Formento, J.L., Francoual, M., Formento, P., Renée, N., Chamorey, E., Bourgeon, A., Seitz, J.F., Delpero, J.R., Letoublon, C., Pezet, D., and Milano, G. (2002). Prognostic value of tumoral thymidylate synthase and p53 in metastatic colorectal cancer patients receiving fluorouracil-based chemotherapy: phenotypic and genotypic analyses. J Clin Oncol 20, 2832-2843. (Pubitemid 34651512)
16. Etienne, M-C., Ilc, K., Formento, J.L., Laurent-Puig, P., Formento, P., Cheradame, S., Fischel, J.L., and Milano, G. (2004). Thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms: relationships with 5-fluorouracil sensitivity. Br J Cancer 90, 526-534. (Pubitemid 38250655)
17. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J.H., den Heijer, M., Kluijtmans, L.A.J., van den Heuve, L.P., and Rozen, R. (1995). A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10, 111-113.
18. Gonzalez-Gomez, P., Bello, J., Arjona, D., Lomas, J., Alonso, M.E., De Campos, J.M., Vaquero, J., Isla, A., Gutierrez, M., and Rey, J.A. (2003). Promoter hypermethylation of multiple genes in astrocytic gliomas. Int J Oncol 22, 601-608.
19. Graziano, F., Kawakami, K., Watanabe, G., Ruzzo, A., Humar, B., Santini, D., Catalano, V., Ficarelli, R., Merriman, T., Panunzi, S., Testa, E., Cascinu, S., Bearzi, I., Tonini, G., and Magnani, M. (2004). Association of thymidylate synthase polymorphisms with gastric cancer susceptibility. Int J Cancer 112, 1010-1014. (Pubitemid 39507007)
20. Grunda, J.M., Fiveash, J., Palmer, C.A., Cantor, A., Fathallah-Shaykh, H.M., Nabors, L.B., and Johnson, M.R. (2010). Rationally designed pharmacogenomic treatment using concurrent capecitabine and radiotherapy for glioblastoma; gene expression profiles associated with outcome. Clin Cancer Res 16, 2890-2898.
21. Grunda, J.M., Nabors, L.B., Palmer, C.A., Chhieng, D.C., Steg, A., Mikkelsen, T., Diasio, R.B., Zhang, K., Allison, D., Grizzle, W.E., Wang, W., Gillespie, G.Y., and Johnson, M.R. (2006). Increased expression of thymidylate synthetase (TS), ubiquitin specific protease 10 (USP10) and survivin is associated with poor survival in glioblastoma multiforme (GBM). J Neurooncol 80, 261-274. (Pubitemid 44782903)
22. Horie, N., Aiba, H., Oguro, K., Hojo, H., and Takeishi, K. (1995). Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 20, 191-197.
23. Kafadar, A.M., Yilmaz, H., Kafadar, D., Ergen, A., Zeybek, U., Bozkurt, N., Kuday, C., and Isbir, T. (2006). C677T gene polymorphism of methylenetetrahydrofolate reductase (MTHFR) in meningiomas and high-grade gliomas. Anticancer Res 26, 2445-2449. (Pubitemid 43980215)
24. Kawakami, K., and Watanabe, G. (2003). Identification and functional analysis of single nucleotide polymorphism in the tandem repeat sequence of thymidylate synthase gene. Cancer Res. 63, 6004-6007. (Pubitemid 37187503)
25. Kim, H.N., Lee, I.K., Kim, Y.K., Tran, H.T., Yang, D.H., Lee, J.J., Shin, M.H., Park, K.S., Shin, M.G., Choi, J.S., and Kim, H.J. (2008). Association between folate-metabolizing pathway polymorphism and non-Hodgkin lymphoma. Br J Haematol. 140, 287-294.
26. Kim, D. (2007). The interactive effect of methyl-group diet and polymorphism of methylenetetrahydrofolate reductase on the risk of colorectal cancer. Mutat Res 622, 14-18. (Pubitemid 47211177)
27. Kim, Y.I. (1999). Folate and carcinogenesis: evidence, mechanisms, and implications. J Nutr Biochem 10, 66-88.
28. Kristensen, M.H., Weidinger, M., Bzorek, M., Pedersen, P.L., and Mejer, J. (2010). Correlation between thymidylate synthase gene variants, RNA and protein levels in primary colorectal adenocarcinomas. J Int Med Res 38, 484-497.
29. Lauten, M., Asgedon, G., Welte, K., Schrappe, M., and Stanulla, M. (2003). Thymidylate synthase gene polymorphism and its association with relapse in childhood B-cell precursor acute lymphoblastic leukemia. J Hematology 88, 353-354. (Pubitemid 36358728)
30. Lightfoot, T.J., Skibola, C.F., Willett, E.V., Skibola, D.R., Allan, J.M., Coppede, F., Adamson, P.J., Morgan, G.J., Roman, E., and Smith, M.T. (2005). Risk of non-hodgkin lymphoma associated with polymorphisms in folate-metabolizing genes. Cancer Epidemiol Biomarkers Prev 14, 2999-3003. (Pubitemid 43068838)
31. Liu, Y., Shete, S., Hosking, F.J., Robertson, L.B., Bondy, M.L., and Houlston, R.S. (2010). New insights into susceptibility to glioma. Arch Neurol 67, 275-278.
32. Marsh, S., Mallon, M.A., Goodfellow, P., and McLeod, H.L. (2005). Concordance of pharmacogenetic markers in germline and colorectal tumor DNA. Pharmacogenomics 6, 873-877. (Pubitemid 41724361)
33. Mandola, M.V., Stoehlmacher, J., Muller-Weeks, S., Cesarone, G., Yu, M.C., Lenz, H.J., and Ladner, R.D. (2003). A novel single nucleotide polymorphism within the 5′ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters transcriptional activity. Cancer Res. 63, 2898-2904. (Pubitemid 36667162)
34. McCarty, K.S., Jr., Szabo, E., Flowers, J.L., Cox, E.B., Leight, G.S., Miller, L., Konrath, J., Soper, J.T., Budwit, D.A., Creasman, W.T., Seigier, H.F., and McCarty, K.S., Sr. (1986). Use of a monoclonal anti-estrogen receptor antibody in the immunohistochemical evaluation of human tumors. Cancer Res 46, 4244-4248.
35. Menei, P., Capelle, L., Guyotat, J., Fuentes, S., Assaker, R., Bataille, B., François, P., Dorwling-Carter, D., Paquis, P., Bauchet, L., Parker, F., Sabatier, J., Faisant, N., and Benoit, J.P. (2005). Local and sustained delivery of 5-fluorouracil from biodegradable microspheres for the radiosensitization of malignant glioma: a randomized phase II trial. Neurosurgery 56, 242-248.
36. Pegoraro, R.J., Chikosi, A., Rom, L., Roberts, C., and Moodley, J. (2004). Methylenetetrahydrofolate reductase gene polymorphisms in black South Africans and the association with preeclampsia. Acta Obstet Gynecol Scand 83, 449-454. (Pubitemid 38534763)
37. Ponder, B.A.J. (2001). Cancer genetics. Nature 411, 336-341. (Pubitemid 32467042)
38. Reidy, J.A. (1987). Folate-and deoxyuridine-sensitive chromatid breakage may result from DNA repair during G2. Mutat Res 192, 217-219. (Pubitemid 18003102)
39. Safarinejad, M.R., Shafiei, N., and Safarinejad, S. (2010). Relationship between three polymorphisms of methylenetetrahydrofolate reductase (MTHFRC677T, A1298C, and G1793A) gene and risk of prostate cancer: a case-control study. Prostate 70, 1645-1657.
40. Semmler, A., Simon, M., Moskau, S., and Linnebank, M. (2006). The methionine synthase polymorphism c.2756A > G alters susceptibility to glioblastoma multiforme. Cancer Epidemiol Biomarkers Prev 15, 2314-2316. (Pubitemid 44877063)
41. Shrubsole, M.J., Gao, Y.T., Cai, Q., Shu, X.O., Dai, Q., Hébert, J.R., Jin, F., and Zheng, W. (2004). MTHFR polymorphisms, dietary folate intake, and breast cancer risk: results from the shanghai breast cancer study. Cancer Epidemiol Biomarkers Prev 13, 190-196. (Pubitemid 38222548)
42. Sirachainan, N., Wongruangsri, S., Kajanachumpol, S., Pakakasama, S., Visudtibhan, A., Nuchprayoon, I., Lusawat, A., Phudhicharoenrat, S., Shuangshoti, S., and Hongeng, S. (2008). Folate pathway genetic polymorphisms and susceptibility of central nervous system tumors in Thai children. Cancer Detect Prev 32, 72-78.
43. Stevens, V.L., McCullough, M.L., Pavluck, A.L., Talbot, J.T., Feigelson, H.S., Thun, M.J., and Calle, E.E. (2007). Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence. Cancer Epidemiol Biomarkers Prev 16, 1140-1147. (Pubitemid 46984950)
44. Tan, W., Miao, X., Wang, L., Yu, C., Xiong, P., Liang, G., Sun, T., Zhou, Y., Zhang, X., Li, H., and Lin, D. (2005). Significant increase in risk of gastroesophageal cancer is associated with interaction between promoter polymorphisms in thymidylate synthase and serum folate status. Carcinogenesis 26, 1430-1435. (Pubitemid 41417886)
45. Ulrich, C.M., Curtin, K., Potter, J.D., Bigler, J., Caan, B., and Slattery, M.L. (2005). Polymorphisms in the reduced folate carrier, thymidylate synthase, or methionine synthase and risk of colon cancer. Cancer Epidemiol Biomarkers Prev 14, 2509-2516. (Pubitemid 41752708)
46. Van Triest, B., Pinedo, H.M., Giaccone, G., and Peters, G.J. (2000). Downstream molecular determinants of response to 5-fluorouracil and antifolate thymidylate synthase inhibitors. Ann Oncol 11, 385-391. (Pubitemid 30333539)
47. Wajed, A.S., Laird, P.W., and DeMeester, T.R. (2001). DNA methylation: an alternative pathway to cancer. Ann Surg 234, 10-20. (Pubitemid 32619329)
48. Wang, L., Miao, X., Tan, W., Lu, X., Zhao, P., Zhao, X., Shan, Y., Li, H., and Lin, D. (2005). Genetic polymorphisms in methylenetetrahydrofolate reductase and thymidylate synthase and risk of pancreatic cancer. Clin Gastroenterol Hepatol 3, 743-751. (Pubitemid 41116726)
49. Weber, B.L., and Nathanson, K.L. (2000). Low penetrance genes associated with increased risk for breast cancer. Eur J Cancer 36, 1193-1199. (Pubitemid 30407005)
50. Weiss, J.R., Baer, M.R., Ambrosone, C.B., Blanco, J.G., Hutson, A., Ford, L.A., and Moysich, K.B. (2007). Concordance of pharmacogenetic polymorphisms in tumor and germ line DNA in adult patients with acute myeloid leukemia. Cancer Epidemiol Biomarkers Prev 16, 1038-1041. (Pubitemid 46910111)
51. Wrensch, M.R., Bondy, M.L., Wiencke, J., and Yost, M. (1993). Environmental risk factors for primary malignant brain tumors: a review. J Neuro-oncol 17, 47-64. (Pubitemid 24006749)
52. Yang, Q-H., Botto, L.D., Gallagher, M., Friedman, J.M., Sanders, C.L., Koontz, D., Nikolova, S., Erickson, J.D., and Steinberg, K. (2008). Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the third national health and nutrition examination survey DNA bank. Am J Clin Nutr 88, 232-246. (Pubitemid 351988705)
53. Yu, K.H., Wang, W.X., Ding, Y.M., Li, H., and Wang, Z.S. (2008). Polymorphism of thymidylate synthase gene associated with its protein expression in human colon cancer. World J Gastroenterol 14, 617-621. (Pubitemid 351320831)
54. Yuan, J.M., Lu, S.C., Van Den Berg, D., Govindarajan, S., Zhang, Z.Q., Mato, J.M., and Yu, M.C. (2007). Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma. Hepatology 46, 749-758. (Pubitemid 47436121)
55. Zhang, Z., Shi, Q., Sturgis, E.M., Spitz, M.R., Hong, W.K., and Wei, Q. (2004). Thymidylate synthase 5′-and 3′-untranslated region polymorphisms associated with risk and progression of squamous cell carcinoma of the head and neck. Clin Cancer Res 10, 7903-7910. (Pubitemid 39587529)
56. Zhang, Z., Xu, Y., Zhou, J., Wang, X., Wang, L., Hu, X., Guo, J., Wei, Q., and Shen, H. (2005). Polymorphisms of thymidylate synthase in the 5′-and 3′-untranslated regions associated with risk of gastric cancer in South China: a case-control analysis. Carcinogenesis 26, 1764-1769. (Pubitemid 41487992)