Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T, A1298C and G1793A Polymorphisms: Association with Risk for Clear Cell Renal Cell Carcinoma and Tumour Behaviour in Men

Clinical Oncology

Volumn 24, Issue 4, 2012, Pages 269-281

  Safarinejad, M R ^a   Shafiei, N ^a   Safarinejad, S ^a  

^a Private Practice of Urology and Andrology   (Iran)

Author keywords

Genetic; Methylenetetrahydrofolate reductase; MTHFR gene; Polymorphism; Renal cell carcinoma

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE;

ADULT; AGED; ARTICLE; CANCER RISK; CASE CONTROL STUDY; CLEAR CELL RENAL CELL CARCINOMA; CONTROLLED STUDY; GENE FREQUENCY; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; IRAN; KIDNEY CARCINOMA; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; WILD TYPE;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, RENAL CELL; CASE-CONTROL STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; KIDNEY NEOPLASMS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84858800305     PISSN: 09366555     EISSN: 14332981     Source Type: Journal    
DOI: 10.1016/j.clon.2011.03.005     Document Type: Article

References (46)

1. Greenlee R.T., Murray T., Bolden S., et al. Cancer statistics, 2000. CA Cancer J Clin 2000, 50:7-33.
2. Dhote R., Pellicer-Coeuret M., Thiounn N., et al. Risk factors for adult renal cell carcinoma: a systematic review and implications for prevention. Br J Urol Int 2000, 86:20-27.
3. Ozdemir E., Kakehi Y., Nakamura E., et al. HLA-DRB1*0101 and *0405 as protective alleles in Japanese patients with renal cell carcinoma. Cancer Res 1997, 57:742-746.
4. Nakamura E., Megumi Y., Kobayashi T., et al. Genetic polymorphisms of the interleukin-4 receptor alpha gene are associated with an increasing risk and a poor prognosis of sporadic renal cell carcinoma in a Japanese population. Clin Cancer Res 2002, 8:2620-2625.
5. Hirata H., Naito K., Yoshihiro S., et al. A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter is associated with conventional renal cell carcinoma. Int J Cancer 2003, 106:372-374.
6. Sharp L., Little J. Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am J Epidemiol 2004, 159:423-443.
7. Goyette P., Pai A., Milos R., et al. Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR). Mamm Genome 1998, 9:652-656.
8. Frosst P., Blom H.J., Milos R., et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995, 10:111-113.
9. Jacques P.F., Bostom A.G., Williams R.R., et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996, 93:7-9.
10. Rozen R. Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 1997, 78:523-526.
11. Rady P.L., Szucs S., Grady J., et al. Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas: a report of a novel MTHFR polymorphic site, G1793A. Am J Med Genet 2002, 107:162-168.
12. van der Put N.M., Gabreels F., Stevens E.M., et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. Am J Hum Genet 1998, 62:1044-1051.
13. Winkelmayer W.C., Huber A., Wagner O.F., et al. Associations between MTHFR 1793G>A and plasma total homocysteine, folate, and vitamin B in kidney transplant recipients. Kidney Int 2005, 67:1980-1985.
14. Choi S.W., Mason J.B. Folate and carcinogenesis: an integrated scheme. J Nutr 2000, 130:129-132.
15. Thompson J.R., Gerald P.F., Willoughby M.L.N., et al. Maternal folate supplementation in pregnancy and protection against acute lymphoblastic leukemia in childhood: a case-control study. Lancet 2001, 358:1935-1940.
16. Duthie S.J., Narayanan S., Blum S., et al. Folate deficiency in vitro induces uracil misincorporation and DNA hypomethylation and inhibits DNA excision repair in immortalized normal colon epithelial cells. Nutr Cancer 2000, 37:245-251.
17. Sakano S., Hinoda Y., Okayama N., et al. Gender-specific association of methylenetetrahydrofolate reductase genotype and haplotype with the aggressiveness and prognosis of clear cell renal cell carcinoma in Japanese patients. BJU Int 2010, 106:424-430.
18. Storkel S., Eble J.N., Adlakha K., et al. Classification of renal cell carcinoma: Workgroup No. 1. Union Internationale Contre le Cancer (UICC) and the American Joint Committee on Cancer (AJCC). Cancer 1997, 80:987-989.
19. Safarinejad M.R., Shafiei N., Safarinejad S. Relationship between three polymorphisms of methylenetetrahydrofolate reductase (MTHFR C677T, A1298C, and G1793A) gene and risk of prostate cancer: a case-control study. Prostate 2010, 70:1645-1657.
20. Stephens M., Smith N.J., Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001, 68:978-989.
21. Lewontin R.C. On measures of gametic disequilibrium. Genetics 1988, 120:849-852.
22. Thomson G., Baur M.P. Third order linkage disequilibrium. Tissue Antigens 1984, 24:250-255.
23. Stern L.L., Mason J.B., Selhub J., et al. Genomic DNA hypomethylation, a characteristic of most cancers, is present in peripheral leukocytes of individuals who are homozygous for the C677T polymorphism in the methylenetetrahydrofolate reductase gene. Cancer Epidemiol Biol 2000, 9:849-853.
24. Zhang S., Hunter D.J., Hankinson S.E., et al. A prospective study of folate intake and the risk of breast cancer. JAMA 1999, 281:1632-1637.
25. Song C., Xing D., Tan W., et al. Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population. Cancer Res 2001, 61:3272-3275.
26. Shen H., Xu Y., Zheng Y., et al. Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a case-control study. Int J Cancer 2001, 95:332-336.
27. Campbell I.G., Baxter S.W., Eccles D.M., et al. Methylenetetrahydrofolate reductase polymorphism and susceptibility to breast cancer. Breast Cancer Res 2002, 4. R14.
28. Goodman M.T., McDuffie K., Hernandez B., et al. Association of methylenetetrahydrofolate reductase polymorphism C677T and dietary folate with the risk of cervical dysplasia. Cancer Epidemiol Biomarkers Prev 2001, 10:1275-1280.
29. Esteller M., Garcia A., Martinez-Palones J.M., et al. Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis 1997, 18:2307-2311.
30. Levine A.J., Siegmund K.D., Ervin C.M., et al. The methylenetetrahydrofolate reductase 677C-T polymorphism and distal colorectal adenoma risk. Cancer Epidemiol Biomarkers Prev 2000, 9:657-663.
31. Krajinovic M., Lamothe S., Labuda D., et al. Role of MTHFR genetic polymorphisms in the susceptibility to childhood acute lymphoblastic leukemia. Blood 2004, 103:252-257.
32. Ma J., Stampfer M.J., Giovannucci E., et al. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 1997, 57:1098-1102.
33. Gemmati D., Ongaro A., Scapoli G.L., et al. Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin's lymphoma in adults. Cancer Epidemiol Biomarkers Prev 2004, 13:787-794.
34. Matsuo K., Suzuki R., Hamajima N., et al. Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma. Blood 2001, 97:205-209.
35. Hekim N., Ergen A., Yaylim I., et al. No association between methylenetetrahydrofolate reductase C677T polymorphism and breast cancer. Cell Biochem Funct 2007, 25:115-117.
36. Paynter R.A., Hankinson S.E., Hunter D.J., et al. No association between MTHFR 677 C->T or 1298 A->C polymorphisms and endometrial cancer risk. Cancer Epidemiol Biomarkers Prev 2004, 13:1088-1089.
37. Balta G., Yuksek N., Ozyurek E., et al. Characterization of MTHFR, GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes in childhood acute leukemia. Am J Hematol 2003, 73:154-160.
38. Plaschke J., Schwanebeck U., Pistorius S., et al. Methylenetetrahydrofolate reductase polymorphisms and risk of sporadic and hereditary colorectal cancer with or without microsatellite instability. Cancer Lett 2003, 191:179-185.
39. Sadewa A.H., Sutomo R., Hayashi C., et al. The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Javanese population. Kobe J Med Sci 2002, 48:137-144.
40. Mutchinick O.M., Lopez M.A., Luna L., et al. High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. Mol Genet Metab 1999, 68:461-467.
41. Kang S.S., Zhou J., Wong P.W., et al. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 1988, 43:414-421.
42. Lievers K.J., Boers G.H., Verhoef P., et al. A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk. J Mol Med 2001, 79:522-528.
43. Blount B.C., Mack M.M., Wehr C.M., 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.
44. Schmutte C., Jones P.A. Involvement of DNA methylation in human carcinogenesis. Biol Chem 1998, 379:377-388.
45. Kang S.S., Wong P.W., Susmano A., et al. Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease. Am J Hum Genet 1991, 48:536-545.
46. Jee S.H., Song K.S., Shim W.H., et al. Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography. Hum Genet 2002, 111:128-135.