Methylenetetrahydrofolate reductase (MTHFR) and susceptibility for (pre)neoplastic cervical disease

Human Genetics

Volumn 116, Issue 4, 2005, Pages 247-254

  Zoodsma, Margreet ^a   Nolte, Ilja M ^a   Schipper, Martin ^a   Oosterom, Elvira ^a   van der Steege, Gerrit ^a   de Vries, Elisabeth G E ^a   te Meerman, Gerard J ^a   van der Zee, Ate G J ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CYSTEINE; DNA; FOLIC ACID; METHIONINE; THREONINE; THYMIDINE PHOSPHATE; URIDINE PHOSPHATE;

ADULT; ALLELE; AMINO ACID METABOLISM; ARTICLE; CANCER GRADING; CANCER RISK; CANCER SUSCEPTIBILITY; CARCINOGENESIS; CONTROLLED STUDY; DNA METHYLATION; DNA REPAIR; DNA SYNTHESIS; ENZYME ACTIVITY; FEMALE; FOLATE METABOLISM; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPOTHESIS; MAJOR CLINICAL STUDY; METABOLIC REGULATION; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; SAMPLE SIZE; SQUAMOUS CELL CARCINOMA; UTERINE CERVIX CANCER; UTERINE CERVIX CARCINOMA; UTERINE CERVIX CARCINOMA IN SITU;

BASE SEQUENCE; CASE-CONTROL STUDIES; DNA PRIMERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PRECANCEROUS CONDITIONS; UTERINE CERVICAL NEOPLASMS;

EID: 14044255979     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-004-1233-4     Document Type: Article

References (44)

1. Blount BC, Mack MM, Wehr CM, MacGregor JT, Hiatt RA, Wang G, Wickramasinghe SN, Everson RB, Ames BN (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 10.1073/pnas.94.7.3290
2. Chen J, Giovannucci E, Kelsey K, Rimm EB, Stampfer MJ, Colditz GA, Spiegelman D, Willett WC, Hunter DJ (1996) A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer. Cancer Res 56:4862-4864
3. Cheng P, Schmutte C, Cofer KF, Felix JC, Yu MC, Dubeau L (1997) Alterations in DNA methylation are early, but not initial, events in ovarian tumorigenesis. Br J Cancer 75:396-402
4. Choi SW, Kim YI, Weitzel JN, Mason JB (1998) Folate depletion impairs DNA excision repair in the colon of the rat. Gut 43:93-99 1:CAS:528:DyaK1cXltFGktLw%3D
5. Colhoun HM, McKeigue PM, Davey SG (2003) Problems of reporting genetic associations with complex outcomes. Lancet 361:865-872 10.1016/S0140-6736(03)12715-8
6. DW Cramer 1994 Epidemiology and biostatistics In: JS Berek NF Hacker (Eds) Practical gynecologic oncology 2nd edn. Williams & Wilkins Baltimore 179
7. Daling JR, Madeleine MM, McKnight B, Carter JJ, Wipf GC, Ashley R, Schwartz SM, Beckmann AM, Hagensee ME, Mandelson MT, Galloway DA (1996) The relationship of human papillomavirus-related cervical tumors to cigarette smoking, oral contraceptive use, and prior herpes simplex virus type 2 infection. Cancer Epidemiol Biomarkers Prev 5:541-548
8. Esteller M, Garcia A, Martinez-Palones JM, Xercavins J, Reventos J (1997) Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis 18:2307-2311 10.1093/carcin/18.12.2307
9. Franco RF, Simoes BP, Tone LG, Gabellini SM, Zago MA, Falcao RP (2001) The methylenetetrahydrofolate reductase C677T gene polymorphism decreases the risk of childhood acute lymphocytic leukemia. Br J Haematol 115:616-618 10.1046/j.1365-2141.2001.03140.x
10. Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, Heijer M den, Kluijtmans LA, Heuvel LP van den (1995) A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113 1:CAS:528:DyaK2MXlsVymt78%3D
11. Gerhard DS, Nguyen LT, Zhang ZY, Borecki IB, Coleman BI, Rader JS (2003) A relationship between methylenetetrahydrofolate reductase variants and the development of invasive cervical cancer. Gynecol Oncol 90:560-565 10.1016/S0090-8258(03)00368-8
12. Goodman MT, McDuffie K, Hernandez B, Wilkens LR, Bertram CC, Killeen J, Le Marchand L, Selhub J, Murphy S, Donlon TA (2001) Association of methylenetetrahydrofolate reductase polymorphism C677T and dietary folate with the risk of cervical dysplasia. Cancer Epidemiol Biomarkers Prev 10:1275-1280
13. Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rozen R (1994) Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification. Nat Genet 7:195-200 1:CAS:528:DyaK2cXlt1ylt7s%3D
14. Harmon DL, Woodside JV, Yarnell JW, McMaster D, Young IS, McCrum EE, Gey KF, Whitehead AS, Evans AE (1996) The common "thermolabile" variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia. QJM 89:571-577
15. Inamoto N, Katsuya T, Kokubo Y, Mannami T, Asai T, Baba S, Ogata J, Tomoike H, Ogihara T (2003) Association of methylenetetrahydrofolate reductase gene polymorphism with carotid atherosclerosis depending on smoking status in a Japanese general population. Stroke 34:1628-1633 10.1161/01.STR.0000075769.09092.82
16. Jong MM de, Nolte IM, Vries EG de, Schaapveld M, Kleibeuker JH, Oosterom E, Oosterwijk JC, Hout AH van der, Steege G van der, Bruinenberg M, Boezen HM, Meerman GJ te, Graaf WT van der (2003) The HLA class III subregion is responsible for an increased breast cancer risk. Hum Mol Genet 12:2311-2319 10.1093/hmg/ddg245
17. Jong MM de, Niens M, Nolte IM, Meerman GJ te, Graaf WT van der, Mulder MJ, Steege G van der, Bruinenberg M, Schaapveld M, Sijmons RH, Hofstra RM, Vries EG de, Kleibeuker JH (2004) The HLA region and colorectal cancer risk. Dis Colon Rectum (in press)
18. Kim YI, Pogribny IP, Basnakian AG, Miller JW, Selhub J, James SJ, Mason JB (1997) Folate deficiency in rats induces DNA strand breaks and hypomethylation within the p53 tumor suppressor gene. Am J Clin Nutr 65:46-52
19. Kjellberg L, Hallmans G, Ahren AM, Johansson R, Bergman F, Wadell G, Angstrom T, Dillner J (2000) Smoking, diet, pregnancy and oral contraceptive use as risk factors for cervical intra-epithelial neoplasia in relation to human papillomavirus infection. Br J Cancer 82:1332-1338 10.1054/bjoc.1999.1100
20. Koutsky LA, Galloway DA, Holmes KK (1988) Epidemiology of genital human papillomavirus infection. Epidemiol Rev 10:122-163 1:STN:280:BiaC3sjivFw%3D
21. Kundu TK, Rao MR (1999) CpG islands in chromatin organization and gene expression. J Biochem (Tokyo) 125:217-222
22. Lambropoulos AF, Agorastos T, Foka ZJ, Chrisafi S, Constantinidis TC, Bontis J, Kotsis A (2003) Methylenetetrahydrofolate reductase polymorphism C677T is not associated to the risk of cervical dysplasia. Cancer Lett 191:187-191 10.1016/S0304-3835(02)00675-4
23. Lengauer C, Kinzler KW, Vogelstein B (1997) DNA methylation and genetic instability in colorectal cancer cells. Proc Natl Acad Sci USA 94:2545-2550 10.1073/pnas.94.6.2545
24. Levine AJ, Siegmund KD, Ervin CM, Diep A, Lee ER, Frankl HD, Haile RW (2000) The methylenetetrahydrofolate reductase 677C→T polymorphism and distal colorectal adenoma risk. Cancer Epidemiol Biomarkers Prev 9:657-663 1:CAS:528:DC%2BD3cXlslegu7g%3D
25. Ma J, Stampfer MJ, Giovannucci E, Artigas C, Hunter DJ, Fuchs C, Willett WC, Selhub J, Hennekens CH, Rozen R (1997) Methylenetetrahydrofolate reductase polymorphism, dietary interactions, and risk of colorectal cancer. Cancer Res 57:1098-1102 1:CAS:528:DyaK2sXhvFOisLg%3D
26. Mitchell MF, Tortolero-Luna G, Wright T, Sarkar A, Richards-Kortum R, Hong WK, Schottenfeld D (1996) Cervical human papillomavirus infection and intraepithelial neoplasia: A review. J Natl Cancer Inst Monogr 17-25
27. Moreno V, Bosch FX, Munoz N, Meijer CJ, Shah KV, Walboomers JM, Herrero R, Franceschi S (2002) Effect of oral contraceptives on risk of cervical cancer in women with human papillomavirus infection: The IARC multicentric case-control study. Lancet 359:1085-1092 10.1016/S0140-6736(02)08150-3
28. Parkin DM, Pisani P, Ferlay J (1999) Estimates of the worldwide incidence of 25 major cancers in 1990. Int J Cancer 80:827-841 10.1002/(SICI)1097-0215(19990315)80:6<827::AID-IJC6>3.0.CO;2-P
29. Piyathilake CJ, Macaluso M, Johanning GL, Whiteside M, Heimburger DC, Giuliano A (2000) Methylenetetrahydrofolate reductase (MTHFR) polymorphism increases the risk of cervical intraepithelial neoplasia. Anticancer Res 20:1751-1757
30. Potter JD (1999) Colorectal cancer: Molecules and populations. J Natl Cancer Inst 91:916-932 10.1093/jnci/91.11.916
31. Put NM van der, Steegers-Theunissen RP, Frosst P, Trijbels FJ, Eskes TK, Heuvel LP van den, Mariman EC, Heyer M den, Rozen R, Blom HJ (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida. Lancet 346:1070-1071 10.1016/S0140-6736(95)91743-8
32. Rozen R (1997) Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). Thromb Haemost 78:523-526
33. Schneider S, Roessli D, Excofier L (2000) Arlequin: A software for population genetics data analysis. Ver 2.000. Genetics and Biometry Laboratory, Department of Anthropology, University of Geneva
34. Shaw GM, Lammer EJ, Zhu H, Baker MW, Neri E, Finnell RH (2002) Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 108:1-6 10.1002/ajmg.10195
35. Shen H, Xu Y, Zheng Y, Qian Y, Yu R, Qin Y, Wang X, Spitz MR, Wei Q (2001) Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: A case-control study. Int J Cancer 95:332-336 10.1002/1097-0215(20010920)95:5<332::AID-IJC1058>3.0.CO;2-9
36. Singal R, Ferdinand L, Das PM, Reis IM, Schlesselman JJ (2004) Polymorphisms in the methylenetetrahydrofolate reductase gene and prostate cancer risk. Int J Oncol 25:1465-1471
37. Skibola CF, Smith MT, Kane E, Roman E, Rollinson S, Cartwright RA, Morgan G (1999) Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. Proc Natl Acad Sci USA 96:12810-12815 10.1073/pnas.96.22.12810
38. Slattery ML, Potter JD, Samowitz W, Schaffer D, Leppert M (1999) Methylenetetrahydrofolate reductase, diet, and risk of colon cancer. Cancer Epidemiol Biomarkers Prev 8:513-518
39. Song C, Xing D, Tan W, Wei Q, Lin D (2001) Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population. Cancer Res 61:3272-3275 1:CAS:528:DC%2BD3MXjtFSjtLo%3D
40. Stern LL, Mason JB, Selhub J, Choi SW (2000) 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 9:849-853
41. Stevenson RE, Schwartz CE, Du YZ, Adams MJ Jr (1997) Differences in methylenetetrahydrofolate reductase genotype frequencies, between Whites and Blacks. Am J Hum Genet 60:229-230
42. Ulrich CM, Kampman E, Bigler J, Schwartz SM, Chen C, Bostick R, Fosdick L, Beresford SA, Yasui Y, Potter JD (1999) Colorectal adenomas and the C677T MTHFR polymorphism: Evidence for gene-environment interaction? Cancer Epidemiol Biomarkers Prev 8:659-668
43. Walboomers JM, Jacobs MV, Manos MM, Bosch FX, Kummer JA, Shah KV, Snijders PJ, Peto J, Meijer CJ, Munoz N (1999) Human papillomavirus is a necessary cause of invasive cervical cancer worldwide. J Pathol 189:12-19 10.1002/(SICI)1096-9896(199909)189:1<12::AID-PATH431>3.0.CO;2-F
44. Zhang J, Zotz RB, Li Y, Wang R, Kiel S, Schulz WA, Wen D, Chen Z, Zhang L, Wang S, Gabbert HE, Sarbia M (2004) Methylenetetrahydrofolate reductase C677T polymorphism and predisposition towards esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population. Cancer Res Clin Oncol 130:574-580