Association of methylenetetrahydrofolate reductase (MTHFR 677C>T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women

Menopause

Volumn 19, Issue 11, 2012, Pages 1260-1266

  Rah, Hyungchul ^a   Jeon, Young Joo ^a   Choi, Youngsok ^a   Shim, Sung Han ^a   Yoon, Tae Ki ^a   Choi, Dong Hee ^a   Cha, Sun Hee ^a   Kim, Nam Keun ^a  

^a CHA University   (South Korea)

Author keywords

Methylenetetrahydrofolate reductase; Premature ovarian failure; Primary ovarian insufficiency; Single nucleotide polymorphism; Thymidylate synthase

Indexed keywords

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

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; ENHANCER REGION; FEMALE; GENE FREQUENCY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; OVARY FOLLICLE DEVELOPMENT; POLYMERASE CHAIN REACTION; PREMATURE OVARIAN FAILURE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ENHANCER ELEMENTS, GENETIC; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); ODDS RATIO; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PRIMARY OVARIAN INSUFFICIENCY; REPUBLIC OF KOREA; THYMIDYLATE SYNTHASE;

EID: 84868680769     PISSN: 10723714     EISSN: 15300374     Source Type: Journal    
DOI: 10.1097/gme.0b013e3182556b08     Document Type: Article

References (65)

1. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986;67:604-606. (Pubitemid 16116286)
2. Murabito JM, Yang Q, Fox C, Wilson PW, Cupples LA. Heritability of age at natural menopause in the Framingham Heart Study. J Clin Endo-crinol Metab 2005;90:3427-3430. (Pubitemid 41014308)
3. Snieder H, MacGregor AJ, Spector TD. Genes control the cessation of a woman's reproductive life: A twin study of hysterectomy and age at menopause. J Clin Endocrinol Metab 1998;83:1875-1880. (Pubitemid 28496309)
4. Towne B,Czerwinski SA, Demerath EW, Blangero J, Roche AF, Siervogel RM. Heritability of age at menarche in girls from the Fels Longitudinal Study. Am J Phys Anthropol 2005;128:210-219. (Pubitemid 41216073)
5. van den Berg SM, Boomsma DI. The familial clustering of age at menarche in extended twin families. Behav Genet 2007;37:661-667. (Pubitemid 47536214)
6. Matzuk MM, Lamb DJ. The biology of infertility: research advances and clinical challenges. Nat Med 2008;14:1197-1213.
7. Fauser BC, Diedrich K, Bouchard P, et al. Contemporary genetic technologies and female reproduction. Hum Reprod Update 2011;17:829-847.
8. Choi SW, Mason JB. Folate and carcinogenesis: An integrated scheme. J Nutr 2000;130:129-132. (Pubitemid 30073783)
9. Willmott M, Bartosik DB, Romanoff EB. The effect of folic acid on superovulation in the immature rat. J Endocrinol 1968;41:439-445.
10. Mohanty D, Das KC. Effect of folate deficiency on the reproductive organs of female rhesus monkeys: A cytomorphological and cytokinetic study. J Nutr 1982;112:1565-1576. (Pubitemid 13238150)
11. Laurence KM, James N, Miller MH, Tennant GB, Campbell H. Double-blind randomised controlled trial of folate treatment before conception to prevent recurrence of neural-tube defects. BMJ 1981;282:1509-1511. (Pubitemid 11096562)
12. Laanpere M, Altmae S, Stavreus-Evers A, Nilsson TK, Yngve A, Salumets A. Folate-mediated one-carbon metabolism and its effect on female fertility and pregnancy viability. Nutr Rev 2010;68:99-113.
13. 12 metabolism: A common pathway in neural tube defect and Down syndrome? Clin Chem Lab Med 2003;41: 1473-1477. (Pubitemid 37493563)
14. Haggarty P, McCallum H, McBain H, et al. Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study. Lancet 2006;367:1513-1519.
15. Herrmann W. The importance of hyperhomocysteinemia as a risk factor for diseases: An overview. Clin Chem Lab Med 2001;39:666-674. (Pubitemid 32894409)
16. Nelen WL, Bulten J, Steegers EA, Blom HJ, Hanselaar AG, Eskes TK. Maternal homocysteine and chorionic vascularization in recurrent early pregnancy loss. Hum Reprod 2000;15:954-960. (Pubitemid 30192752)
17. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reduc-tase. Nat Genet 1995;10:111-113.
18. Bottiger AK, Hurtig-Wennlof A, Sjostrom M, Yngve A, Nilsson TK. Association of total plasma homocysteine with methylenetetrahydro-folate reductase genotypes 677C9T, 1298A9C, and 1793G9A and the corresponding haplotypes in Swedish children and adolescents. Int J Mol Med 2007;19:659-665.
19. van der Put NM, Gabreels F, Stevens EM, 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. (Pubitemid 28199004)
20. Friso S, Choi SW, Girelli D, et al. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA meth-ylation through an interaction with folate status. Proc Natl Acad Sci USA 2002;99:5606-5611. (Pubitemid 34411596)
21. Stern LL, Mason JB, Selhub J, Choi SW. Genomic DNA. Hypo-methylation, 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 2000;9:849-853. (Pubitemid 30660060)
22. 12, homocysteine status and DNA damage in young Australian adults. Carcinogenesis 1998;19: 1163-1171. (Pubitemid 28375365)
23. Kimura M, Umegaki K, Higuchi M, Thomas P, Fenech M. Methylenete- trahydrofolate reductase C677T polymorphism, folic acid and riboflavin are important determinants of genome stability in cultured human lymphocytes. J Nutr 2004;134:48-56. (Pubitemid 38057422)
24. Hecht S, Pavlik R, Lohse P, Noss U, Friese K, Thaler CJ. Common 677CYT mutation of the 5,10-methylenetetrahydrofolate reductase gene affects follicular estradiol synthesis. Fertil Steril 2009;91:56-61.
25. Pavlik R, Hecht S, Ochsenkuhn R, Noss U, Lohse P, Thaler CJ. Divergent effects of the 677C9T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness and anti-Müllerian hormone concentrations. Fertil Steril 2011;95:2257-2262.
26. Rosen MP, Shen S, McCulloch CE, Rinaudo PF, Cedars MI, Dobson AT. Methylenetetrahydrofolate reductase (MTHFR) is associated with ovarian follicular activity. Fertil Steril 2007;88:632-638. (Pubitemid 47368234)
27. Thaler CJ, Budiman H, Ruebsamen H, Nagel D, Lohse P. Effects of the common 677C9T mutation of the 5,10-methylenetetrahydrofolate reduc-tase (MTHFR) gene on ovarian responsiveness to recombinant follicle-stimulating hormone. Am J Reprod Immunol 2006;55:251-258. (Pubitemid 43349260)
28. 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: 1436-1443. (Pubitemid 39202309)
29. Ulvik A, Ueland PM, Fredriksen A, et al. Functional inference of the methylenetetrahydrofolate reductase 677C9T and 1298A9C polymorphisms from a large-scale epidemiological study. Hum Genet 2007; 121:57-64. (Pubitemid 46421141)
30. Jennings BA, Willis GA, Skinner J, Relton CL. Genetic selection? A study of individual variation in the enzymes of folate metabolism. BMC Med Genet 2010;11:18.
31. Kawakami K, Salonga D, Park JM, et al. Different lengths of a polymorphic repeat sequence in the thymidylate synthase gene affect trans-lational efficiency but not its gene expression. Clin Cancer Res 2001;7: 4096-4101. (Pubitemid 34044633)
32. Trinh BN, Ong CN, Coetzee GA, Yu MC, Laird PW. Thymidylate syn-thase: A novel genetic determinant of plasma homocysteine and folate levels. Hum Genet 2002;111:299-302. (Pubitemid 36075054)
33. Urbich C, Kuehbacher A, Dimmeler S. Role of microRNAs in vascular diseases, inflammation, and angiogenesis. Cardiovasc Res 2008;79: 581-588.
34. Mandola MV, Stoehlmacher J, Muller-Weeks S, et al. A novel single nucleotide polymorphism within the 5¶ tandem repeat polymorphism of the thymidylate synthase gene abolishes USF-1 binding and alters tran-scriptional activity. Cancer Res 2003;63:2898-2904. (Pubitemid 36667162)
35. Mandola MV, Stoehlmacher J, Zhang W, et al. A 6 bp polymorphism in the thymidylate synthase gene causes message instability and is associated with decreased intratumoral TS mRNA levels. Pharmacogenetics 2004;14:319-327. (Pubitemid 38638919)
36. Park HM, Shin SJ, Choi DH, Oh D, Lee S, Kim NK. Association between folate metabolismYrelated gene polymorphisms and methylation of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity. Fertil Steril 2008;90:1605-1610.
37. Park HM, Kim HJ, Shin SJ, et al. Association of the folate metabolismY related gene polymorphisms in spontaneously aborted embryos with abnormal chromosomal integrity. Korean J Genet 2007;29:389-393. (Pubitemid 47631121)
38. Rothman KJ, Greenland S, eds. Modern Epidemiology. 2nd ed. Philadelphia, PA: Lippincott-Raven Publishers, 1998.
39. Choi DH, Kim EK, Kim KH, et al. Expression pattern of endothelin system components and localization of smooth muscle cells in the human pre-ovulatory follicle. Hum Reprod 2011;26:1171-1180.
40. Benjamini Y, Hochberg Y. Controlling the false discovery rate: A practical and powerful approach to multiple testing. J R Stat Soc Ser B Stat Methodol 1995;57:289-300.
41. Ho V, Massey TE, King WD. Influence of thymidylate synthase gene polymorphisms on total plasma homocysteine concentrations. Mol Genet Metab 2010;101:18-24.
42. Summers CM, Mitchell LE, Stanislawska-Sachadyn A, et al. Genetic and lifestyle variables associated with homocysteine concentrations and the distribution of folate derivatives in healthy premenopausal women. Birth Defects Res A Clin Mol Teratol 2010;88:679-688.
43. Bae J, Choi DH, Kang MS, Cha SH, Oh D, Kim NK. Effect of methyl-enetetrahydrofolate reductase and thymidylate synthase enhancer region polymorphisms on the risk of idiopathic recurrent spontaneous abortion in a Korean population. Fertil Steril 2009;91:1560-1562.
44. Xiao B, Zhu ED, Li N, et al. Increased miR-146a in gastric cancer directly targets SMAD4 and is involved in modulating cell proliferation and apoptosis. Oncol Rep 2012;27:559-566.
45. Kang SY, Lee SJ, Hong SH, et al. Polymorphisms of 5,10- methylenetetrahydrofolate reductase and thymidylate synthase in squa-mous cell carcinoma and basal cell carcinoma of the skin. Mol Med Rep 2010;3:741-747.
46. Kim HN, Kim YK, Lee IK, et al. Polymorphisms involved in the folate metabolizing pathway and risk of multiple myeloma. Am J Hematol 2007; 82:798-801.
47. Kim JW, Lee JH, Hong SH, et al. Combination of polymorphisms between MTHFR and TS gene modulates survival after 5-fluorouracilY based therapy in colorectal cancer patients. Genes Genom 2010;32: 469-475.
48. Nielsen DM, Ehm MG, Weir BS. Detecting marker-disease association by testing for Hardy-Weinberg disequilibrium at a marker locus. Am J Hum Genet 1998;63:1531-1540. (Pubitemid 30418550)
49. Gulhan I, Bozkaya G, Bilgir F, et al. Serum homocysteine and asymmetric dimethylarginine levels in patients with premature ovarian failure: A prospective controlled study. Gynecol Endocrinol 2011;27:568-571.
50. Lobo RA. Menopause. In: Katz VL, Lentz GM, Lobo RA, Gershenson DM, eds. Comprehensive Gynecology. 5th ed. Philadelphia, PA: Mosby Elsevier, 2007, p. 1041.
51. Conway GS. Premature ovarian failure. Br Med Bull 2000;56:643-649. (Pubitemid 32041658)
52. Stevens VL, McCullough ML, Pavluck AL, et al. Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence. Cancer Epidemiol Biomarkers Prev 2007;16:1140-1147. (Pubitemid 46984950)
53. Maruti SS, Ulrich CM, Jupe ER, White E. MTHFR C677T and post-menopausal breast cancer risk by intakes of one-carbon metabolism nutrients: A nested case-control study. Breast Cancer Res 2009;11:R91.
54. Shuster LT, Rhodes DJ, Gostout BS, Grossardt BR, Rocca WA. Premature menopause or early menopause: long-term health consequences. Maturitas 2010;65:161-166.
55. Pitkin J, Rees MC, Gray S, et al. Management of premature menopause. Menopause Int 2007;13:44-45. (Pubitemid 46692070)
56. Fish JD. Part 1: hormone replacement for survivors of childhood cancer with ovarian failureVwhen is it worth the risk? J Pediatr Adolesc Gynecol 2011;24:98-101.
57. Shelling AN, Burton KA, Chand AL, et al. Inhibin: A candidate gene for premature ovarian failure. Hum Reprod 2000;15:2644-2649. (Pubitemid 32000524)
58. Marozzi A, Porta C, Vegetti W, et al. Mutation analysis of the inhibin > gene in a cohort of Italian women affected by ovarian failure. Hum Reprod 2002;17:1741-1745. (Pubitemid 34790294)
59. Harris SE, Chand AL, Winship IM, et al. INHA promoter polymorphisms are associated with premature ovarian failure. Mol Hum Reprod 2005; 11:779-784. (Pubitemid 43205485)
60. Dixit H, Rao KL, Padmalatha V, et al. Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure. Hum Reprod 2006;21:1643-1644. (Pubitemid 44445049)
61. Woad KJ, Pearson SM, Harris SE, Gersak K, Shelling AN. Investigating the association between inhibin > gene promoter polymorphisms and premature ovarian failure. Fertil Steril 2009;91:62-66.
62. Dixit H, Deendayal M, Singh L. Mutational analysis of the mature pep-tide region of inhibin genes in Indian women with ovarian failure. Hum Reprod 2004;19:1760-1764. (Pubitemid 39144618)
63. Prakash GJ, Ravi Kanth VV, Shelling AN, Rozati R, Sujatha M. Muta-tional analysis of inhibin > gene revealed three novel variations in Indian women with premature ovarian failure. Fertil Steril 2010;94:90-98.
64. Chand AL, Ooi GT, Harrison CA, Shelling AN, Robertson DM. Functional analysis of the human inhibin > subunit variant A257T and its potential role in premature ovarian failure. Hum Reprod 2007;22:3241-3248. (Pubitemid 351696784)
65. Murray A, Bennett CE, Perry JR, et al. Common genetic variants are significant risk factors for early menopause: results from the Breakthrough Generations Study. Hum Mol Genet 2011;20:186-192.