Review and pooled analysis of studies on MTHFR C677T polymorphism and esophageal cancer

Toxicology Letters

Volumn 184, Issue 2, 2009, Pages 73-80

  Langevin, S M ^a,b   Lin, D ^c   Matsuo, K ^d   Gao, C M ^e   Takezaki, T ^f   Stolzenberg Solomon, R Z ^g   Vasavi, M ^h   Hasan, Q ^h,i   Taioli, E ^a,b  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF PITTSBURGH CANCER INSTITUTE   (United States)

^c CANCER HOSPITAL   (China)

^d AICHI CANCER CENTER HOSPITAL   (Japan)

^e JIANGSU CANCER HOSPITAL   (China)

^f KAGOSHIMA UNIVERSITY   (Japan)

^g NCI   (United States)

^h KAMINENI HOSPITALS   (India)

ⁱ Bhagwan Mahavir Medical Research Centre   (India)

Author keywords

Case control studies; Esophagus; Genetic epidemiology; Methylenetetrahydrofolate reductase

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALCOHOL; FOLIC ACID;

ALCOHOL CONSUMPTION; CANCER RISK; ENVIRONMENT; ENZYME POLYMORPHISM; ESOPHAGEAL ADENOCARCINOMA; FOLATE METABOLISM; GENE; GENE FREQUENCY; GENE FUNCTION; GENE INTERACTION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; PRIORITY JOURNAL; REVIEW; SENSITIVITY ANALYSIS; SMOKING;

ALCOHOL DRINKING; ESOPHAGEAL NEOPLASMS; FOLIC ACID; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC; RISK FACTORS; SMOKING;

NICOTIANA TABACUM;

EID: 58149280215     PISSN: 03784274     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.toxlet.2008.09.003     Document Type: Review

References (64)

1. Ashfield-Watt P.A., Pullin C.H., Whiting J.M., Clark Z.E., Moat S.J., Newcombe R.G., Burr M.L., Lewis M.J., Powers H.J., and McDowell I.F. Methylenetetrahydrofolate reductase 677 C>T genotype modulates homocysteine responses to a folate-rich diet or low dose folic acid supplement: a randomized controlled trial. Am. J. Clin. Nutr. 76 (2002) 180-186
2. Bailey L.B., and Gregory III J.F. Polymorphisms of methylenetetrahydrofolate reductase and other enzymes: metabolic significance, risks and impact on folate requirement. J. Nutr. 129 (1999) 919-922
3. Barak A.J., Beckenhauer H.C., Tuma D.J., and Badakhsh S. Effects of prolonged ethanol feeding on methionine metabolism in rat liver. Biochem. Cell Biol. 65 3 (1987 Mar) 230-233
4. Begg C.B., and Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics 50 December (4) (1994) 1088-1101
5. Blettner M., Sauerbrei W., Schlehofer B., Scheuchenpflug T., and Friedenreich C. Traditional reviews, meta-analyses and pooled analyses in epidemiology. Int. J. Epidemiol. 28 February (1) (1999) 1-9 (Review)
6. Blount B.C., Mack M.M., Wehr C.M., MacGregor J.T., Hiatt R.A., Wang G., Wickramasinghe S.N., Everson R.B., and Ames B.N. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: implications for cancer and neuronal damage. Proc. Natl. Acad. Sci. U.S.A. 94 April (1997) 3290-3295
7. Boccia S., Hung R., Ricciardi G., Gianfagna F., Ebert M.P., Fang J.Y., Gao C.M., Götze T., Graziano F., Lacasaña-Navarro M., Lin D., López-Carrillo L., Qiao Y.L., Shen H., Stolzenberg-Solomon R., Takezaki T., Weng Y.R., Zhang F.F., van Duijn C.M., Boffetta P., and Taioli E. Meta- and pooled analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a huge-GSEC review. Am. J. Epidemiol. 167 5 (2008) 505-516
8. Botto L.D., and Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am. J. Epidemiol. 151 9 (2000) 862-877
9. Chen J., Giovannucci E., Kelsey K., Rimm E.B., Stampfer M.J., Colditz G.A., Spiegelman D., Willett W.C., and Hunter D.J. A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res. 56 November (21) (1996) 4862-4864
10. Dong L.M., Potter J.D., White E., Ulrich C.M., Cardon L.R., and Peters U. Genetic susceptibility to cancer: the role of polymorphisms in candidate genes. JAMA 299 May (20) (2008) 2423-2436
11. Eads C.A., Lord R.V., Wickramasinghe K., Long T.I., Kurumboor S.K., Bernstein L., Peters J.H., DeMeester S.R., DeMeester T.R., Skinner K.A., and Laird P.W. Epigenetic patterns in the progression of esophageal adenocarcinoma. Cancer Res. 61 April (8) (2001) 3410-3418
12. Egger M., Davey Smith G., Schneider M., and Minder C. Bias in meta-analysis detected by a simple, graphical test. BMJ 315 September (7109) (1997) 629-634
13. Fang J.Y., and Xiao S.D. Folic acid, polymorphism of methyl-group metabolism genes, and DNA methylation in relation to GI carcinogenesis. J. Gastroenterol. 38 (2003) 821-829
14. Ferlay, J., Bray, F., Pisani, P., Parkin, D.M., 2004. GLOBOCAN 2002: Cancer Incidence, Mortality, and Prevalence Worldwide. IARC Cancer Base No. 5. v2.0, IARC Press, Lyon. Available at: http://www-dep.iarc.fr (accessed 01.02.08).
15. Fodinger M., Horl W.H., and Sunder-Plassmann G. Molecular biology of 5,10methylenetetrahydrofolate reductase. J. Nephrol. 13 (2000) 20-33
16. Friso S., and Choi S.W. Gene-nutrient interactions in one-carbon metabolism. Curr. Drug Metab. 6 (2005) 37-46
17. Friso S., Choi S.W., Girelli D., Mason J.B., Dolnikowski G.G., Bagley P.J., Olivieri O., Jacques P.F., Rosenberg I.H., Corrocher R., and Selhub J. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc. Natl. Acad. Sci. U.S.A. 99 8 (2002) 5606-5611
18. 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 Heuvel L.P., and Rozen R. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 10 (1995 May) 111-113
19. Gao C.M., Takezaki T., Wu J.Z., Liu Y.T., Ding J.H., Li S.P., Su P., Hu X., Kai H.T., Li Z.Y., Matsuo K., Hamajima N., Sugimura H., and Tajima K. Polymorphisms in thymidylate synthase and methylenetetrahydrofolate reductase genes and the susceptibility to esophageal and stomach cancer with smoking. Asian Pac. J. Cancer Prev. 5 (2004) 133-138
20. Gao C.M., Toshiro T., Wu J.Z., Cao H.X., Liu Y.T., Ding J.H., Li S.P., Su P., Hu X., Kai H.T., and Kazuo T. A case-control study on the polymorphisms of methylenetetrahydrofolate reductase 1298A→C and susceptibility of esophageal cancer. Zhonghua Liu Xing Bing Xue Za Zhi 25 April (4) (2004) 341-345
21. Gaspari L., Marinelli D., Taioli E., and Collaborative Group on Genetic Susceptibility to Environmental Carcinogens. International collaborative study on genetic susceptibility to environmental carcinogens (GSEC): an update. Int. J. Hyg. Environ. Health 204 October (1) (2001) 39-42
22. Goyette P., Sumner J.S., Milos R., Duncan A.M.V., Rosenblatt D.S., Matthews R.G., and Rozen R. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat. Genet. 7 June (1994) 195-200
23. Graziano F., Kawakami K., Ruzzo A., Watanabe G., Santini D., Pizzagalli F., Bisonni R., Mari D., Floriani I., Catalano V., Silva R., Tonini G., Torri V., Giustini L., and Magnani M. Methylenetetrahydrofolate reductase 677 C/T gene polymorphism, gastric cancer susceptibility and genomic DNA hypomethylation in an at-risk Italian population. Int. J. Cancer 118 February (3) (2006) 628-632
24. Guo S.W., and Thompson E.A. Performing the exact test of Hardy-Weinberg proportion for multiple alleles. Biometrics 48 June (2) (1992) 361-372
25. Halsted C.H., Villanueva J.A., Devlin A.M., and Chandler C.J. Metabolic interactions of alcohol and folate. J. Nutr. 132 (2002) 2367S-2372S
26. Hamajima N., Matsuo K., Saito T., Hirose K., Inoue M., Takezaki T., Kuroishi T., and Tajima K. Gene-environment interactions and polymorphism studies of Cancer Risk in the Hospital-based Epidemiologic Research Program at Aichi Cancer Center II (HERPACC-II). Asian Pac. J. Cancer Prev. 2 2 (2001) 99-107
27. Hofler H., Langer R., Ott K., and Keller G. Prediction of response to neoadjuvant chemotherapy in carcinomas of the upper gastrointestinal tract. Adv. Exp. Med. Biol. 587 (2006) 115-120
28. Jacques P.F., Bostom A.G., Williams R.R., Ellison R.C., Eckfedlt J.H., Rosenberg I.H., Selhub J., and Rozen R. Relation between folate status, a common mutation in methlyenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93 (1996) 7-9
29. Jacques P.F., Kalmbach R., Bagley P.J., Russo G.T., Rogers G., Wilson P.W.F., Rosenberg I.H., and Selhub J. 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. 132 (2002) 283-288
30. Khaled M.A., and Krumdieck C.L. Association of folate molecules as determined by proton NMR: implications on enzyme binding. Biochem. Biophys. Res. Commun. 130 3 (1985) 1273-1280
31. Khaled M.A., Watkins C.L., and Krumdieck C.L. Inactivation of B12 and folate coenzymes by butyl nitrite as observed by NMR: implications on one-carbon transfer mechanism. Biochem. Biophys. Res. Commun. 135 February (1) (1986) 201-207
32. Kim J.K., Kim S., Han J.H., Kim H.J., Chong S.Y., Hong S.P., Hwang S.G., Ahn J.Y., Cha K.Y., Oh D., and Kim N.K. Polymorphisms of 5 10-methylenetetrahydrofolate reductase and risk of stomach cancer in a Korean population. Anticancer Res. 25 May-June (3B) (2005) 2249-2252
33. Kureshi N., Ghaffar S., Siddiqui S., Salahuddin I., and Frossard P.M. Head and neck cancer susceptibility: a genetic marker in the methylenetetrahydrofolate reductase gene. ORL J. Otorhinolaryngol. Relat. Spec. 66 (2004) 241-245
34. Langer R., Specht K., Becker K., Ewald P., Sarbia M., Busch R., Feith M., Stein H.J., Siewert J.R., and Hofler H. Prediction of response to neoadjuvant chemotherapy in Barrett's carcinoma by quantitative gene expression analysis. Verh Dtsch Ges Pathol. 88 (2004) 207-213
35. Langer R., Specht K., Becker K., Ewald P., Bekesch M., Sarbia M., Busch R., Feith M., Stein H.J., Siewert J.R., and Hofler H. Association of pretherapeutic expression of chemotherapy-related genes with response to neoadjuvant chemotherapy in Barrett carcinoma. Clin. Cancer Res. 11 October (20) (2005) 7462-7469
36. Larsson S.C., Giovannucci E., and Wolk A. Folate intake, MTHFR polymorphisms, and risk of esophageal, gastric, and pancreatic cancer: a meta-analysis. Gastroenterology 131 (2006) 1271-1283
37. Leclerc D., and Rozen R. [Molecular genetics of MTHFR: polymorphisms are not all benign]. Med. Sci. (Paris) 23 March (3) (2007) 297-302
38. Ma J., Stampfer M.J., Giovannucci E., Artigas C., Hunter D.J., Fuchs C., Willett W.C., Selhub J., Hennekens C.H., and Rozen R. Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res. 57 March (6) (1997) 1098-1102
39. Macis D., Maisonneuve P., Johansson H., Bonanni B., Botteri E., Iodice S., Santillo B., Penco S., Gucciardo G., D'Aiuto G., del Turco R., Amodori M., Costa A., and Decensi A. Methylenetetrahydrofolate reductase (MTHFR) and breast cancer risk: a nested-case-control study and a pooled meta-analysis. Breast Cancer Res. Treat. 106 (2007) 263-271
40. Mao R., Fan Y., Jin Y., Bai J., and Fu S. Methylenetetrahydrofolate reductase gene polymorphisms and lung cancer: a meta-analysis. J. Hum. Genet. 53 (2008) 340-348
41. Mayne S.T., Risch H.A., Dubrow R., Chow W.H., Gammon M.D., Vaughan T.L., Farrow D.C., Schoenberg J.B., Stanford J.L., Ahsan H., West A.B., Rotterdam H., Blot W.J., and Fraumeni Jr. J.F. Nutrient intake and risk of subtypes of esophageal and gastric cancer. Cancer Epidemiol. Biomarkers Prev. 10 (2001) 1055-1062
42. McCullough M.L., and Giovannucci E.L. Diet and cancer prevention. Oncogene 23 (2004) 6349-6364
43. McNulty H., Dowey L.C., Strain J.J., Dunne A., Ward M., Molloy A., McAnena L.B., Hughes J.P., Hannon-Fletcher M., and Scott J.M. Riboflavin lowers homocysteine in individuals homozygous for the MTHFR 677 C>T polymorphism. Circulation 113 (2006) 74-80
44. Miao X., Xing D., Tan W., Qi J., Lu W., and Lin D. Susceptibility to gastric cardia adenocarcinoma and genetic polymorphisms in methylenetetrahydrofolate reductase in an at-risk Chinese population. Cancer Epidemiol. Biomarkers Prev. 11 November (11) (2002) 1454-1458
45. Jemal, A., Siegel, R., Ward, E., Murray, T., Xu, J., Thun, M.J., 2007. Cancer Statistics, 2007. CA Cancer J Clin 57 (Jan-Feb(1)), 43-66.
46. Parkin D.M., Bray F., Ferlay J., and Pisani P. Global Cancer Statistics 2002. CA Cancer J. Clin. 55 (2005) 74-108
47. Parkin, D.M., Whelan, S.L., Ferlay, J., and Storm, H. Cancer Incidence in Five Continents, Vol. I to VIII. IARC CancerBase No. 7, Lyon, 2005.
48. Sarbia M., Stahl M., von Weyhern C., Weirich G., and Puhringer-Oppermann F. The prognostic significance of genetic polymorphisms (methylenetetrahydrofolate reductase C677T, methionine synthase A2756G thymidilate synthase tandem repeat polymorphism) in multimodally treated oesophageal squamous cell carcinoma. Br. J. Cancer 94 January (2) (2006) 203-207
49. Song C., Xing D., Tan W., Wei Q., and Lin D. Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population. Cancer Res. 61 (2001) 3272-3275
50. Stern L.L., Mason J.B., Selhub J., and Choi S.W. 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. Biomarkers Prev. 9 August (2000) 849-853
51. Stolzenberg-Solomon R.Z., Qiao Y.L., Abnet C.C., Ratnasinghe D.L., Dawsey S.M., Dong Z.W., Taylor P.R., and Mark S.D. Esophageal and gastric cardia cancer risk and folate- and vitamin B(12)-related polymorphisms in Linxian, China. Cancer Epidemiol. Biomarkers Prev. 12 November (2003) 1222-1226
52. Taioli E., Pedotti P., and Garte S. Importance of allele frequency estimates in epidemiological studies. Mut. Res. 567 (2004) 63-70
53. Takkouche B., Cadarso-Suárez C., and Spiegelman D. Evaluation of old and new tests of heterogeneity in epidemiologic meta-analysis. Am. J. Epidemiol. 150 June (2) (1999) 206-215
54. Ulvik A., Ueland P.M., Fredriksen A., Meyer K., Vollset S.E., Hoff G., and Schneede J. Functional inference of the methylenetetrahydrofolate reductase 677 C>T and [1298] A>C polymorphisms from a large-scale epidemiological study. Hum. Genet. 121 (2007) 57-64
55. Vasavi M., Ponnala S., Gujjari K., Boddu P., Bharatula R.S., Prasad R., Ahuja Y.R., and Hasan Q. DNA methylation in esophageal diseases including cancer: special reference to hMLH1 gene promoter status. Tumori 92 March-April (2) (2006) 155-162
56. Vizcaino A.P., Moreno V., Lambert R., and Parkin D.M. Time trends incidence of both major histologic types of esophageal carcinomas in selected countries 1973-1995. Int. J. Cancer 99 (2002) 860-868
57. Wang L.D., Guo R.F., Fan Z.M., He X., Gao S.S., Guo H.Q., Matsuo K., Yin L.M., and Li J.L. Association of methylenetetrahydrofolate reductase and thymidylate synthase promoter polymorphisms with genetic susceptibility to esophageal and cardia cancer in a Chinese high-risk population. Dis. Esophagus 18 (2005) 177-184
58. Wang Y., Guo W., He Y., Chen Z., Wen D., Zhang X., Wang N., Li Y., Ge H., and Zhang J. Association of MTHFR C677T and SHMT(1) C1420T with susceptibility to ESCC and GCA in a high incident region of Northern China. Cancer Causes Control 18 March (2007) 143-152
59. Wu X., Lu C., Chiang S.S., and Ajani J.A. Pharmacogenetics in esophageal cancer. Semin. Oncol. 32 December (6 Suppl. 9) (2005) S87-S89
60. Wu X., Gu J., Wu T.T., Swisher S.G., Liao Z., Correa A.M., Liu J., Etzel C.J., Amos C.I., Huang M., Chiang S.S., Milas L., Hittelman W.N., and Ajani J.A. Genetic variations in radiation and chemotherapy drug action pathways predict clinical outcomes in esophageal cancer. J. Clin. Oncol. 24 August (23) (2006) 3789-3798
61. Xing D., Tan W., and Lin D. Genetic polymorphisms and susceptibility to esophageal cancer among Chinese population (review). Oncol. Rep. 10 September-October (5) (2003) 1615-1623
62. Yang C.X., Matsuo K., Ito H., Shinoda M., Hatooka S., Hirose K., Wakai K., Saito T., Suzuki T., Maeda T., and Tajima K. Gene-environment interactions between alcohol drinking and the MTHFR C677T polymorphism impact on esophageal cancer risk: results of a case-control study in Japan. Carcinogenesis 26 (2005) 1285-1290
63. Zhang J., Zotz R.B., Li Y., Wang R., Kiel S., Schulz W.A., Wen D., Chen Z., Zhang L., Wang S., Gabbert H.E., and Sarbia M. Methylenetetrahydrofolate reductase C677T polymorphism and predisposition towards esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population. J. Cancer Res. Clin. Oncol. 130 (2004) 574-580
64. Zintzaras E., Giannouli S., Rodopoulou P., and Voulgarelis M. The role of MTHFR gene in multiple myeloma. J. Hum. Genet. 53 (2008) 499-507