Methylenetetrahydrofolate reductase C677T and A1298C variants do not affect ongoing pregnancy rates following IVF

Human Reproduction

Volumn 22, Issue 2, 2007, Pages 450-456

  Dobson, A T ^a   Davis, R M ^a   Rosen, M P ^a   Shen, S ^a   Rinaudo, P F ^a   Chan, J ^a   Cedars, M I ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Folic acid; IVF; Methylenetetrahydrofolate reductase; MTHFR; Pregnancy rate

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; CYSTEINE; FOLIC ACID; THREONINE;

ADULT; ANALYSIS OF VARIANCE; ARTICLE; CHI SQUARE TEST; CONTROLLED STUDY; EMBRYO TRANSFER; FEMALE; FERTILIZATION IN VITRO; FOLIC ACID DEFICIENCY; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE ANALYSIS; PREGNANCY OUTCOME; PREGNANCY RATE; SPONTANEOUS ABORTION; STATISTICAL SIGNIFICANCE; TREATMENT FAILURE; VITAMIN SUPPLEMENTATION;

EID: 33846536401     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/del396     Document Type: Article

References (45)

1. Azem F, Many A, Ben Ami I, Yovel I, Amit A, Lessing JB and Kupferminc MJ (2004) Increased rates of thrombophilia in women with repeated IVF failures. Hum Reprod 19,368-370.
2. Botto LD and Yang Q (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review. Am J Epidemiol 151,862-877.
3. Braude P, Bolton V and Moore S (1988) Human gene expression first occurs between the four- and eight-cell stages of preimplantation development. Nature 332,459-461.
4. Bronstrup A, Hages M, Prinz-Langenohl R and Pietrzik K (1998) Effects of folic acid and combinations of folic acid and vitamin B-12 on plasma homocysteine concentrations in healthy, young women. Am J Clin Nutr 68,1104-1110.
5. Castro R, Rivera I, Ravasco P, Camilo ME, Jakobs C, Blom HJ and de Almeida IT (2004) 5,10-Methylenetetrahydrofolate reductase (MTHFR) 677C->T and 1298A->C mutations are associated with DNA hypomethylation. J Med Genet 41,454-458.
6. Chen Z, Karaplis AC, Ackerman SL, Pogribny IP, Melnyk S, Lussier-Cacan S, Chen MF, Pai A, John SW, Smith RS et al. (2001) Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet 10,433-443.
7. Cox GF, Burger J, Lip V, Mau UA, Sperling K, Wu BL and Horsthemke B (2002) Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet 71,162-164.
8. DeBaun MR, Niemitz EL and Feinberg AP (2003) Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19. Am J Hum Genet 72,156-160.
9. De Cabo SF, Hazen MJ, Molero ML and Fernandez-Piqueras J (1994) SAdenosyl-L-homocysteine: A non-cytotoxic hypomethylating agent. Experientia 50,658-659.
10. De Rycke M, Liebaers I and Van Steirteghem A (2002) Epigenetic risks related to assisted reproductive technologies: Risk analysis and epigenetic inheritance. Hum Reprod 17,2487-2494.
11. Dobson AT, Raja R, Abeyta MJ, Taylor T, Shen S, Haqq C and Pera RA (2004) The unique transcriptome through day 3 of human preimplantation development. Hum Mol Genet 13,1461-1470.
12. Doherty AS, Mann MR, Tremblay KD, Bartolomei MS and Schultz RM (2000) Differential effects of culture on imprinted H19 expression in the preimplantation mouse embryo. Biol Reprod 62,1526-1535.
13. Duthie SJ, Narayanan S, Blum S, Pirie L and Brand GM (2000) Folate deficiency in vitro induces uracil misincorporation and DNA hypomethylation and inhibits DNA excision repair in immortalized normal human colon epithelial cells. Nutr Cancer 37,245-251.
14. Fohr IP, Prinz-Langenohl R, Bronstrup A, Bohlmann AM, Nau H, Berthold HK and Pietrzik K (2002) 5,10-Methylenetetrahydrofolate reductase genotype determines the plasma homocysteine-lowering effect of supplementation with 5-methyltetrahydrofolate or folic acid in healthy young women. Am J Clin Nutr 75,275-282.
15. Friso S, Choi SW, Girelli D, Mason JB, Dolnikowski GG, Bagley PJ, Olivieri O, Jacques PF, Rosenberg IH, Corrocher R et al. (2002) A common mutation in the 5,10-methylenetetrahydrofolate reductase gene affects genomic DNA methylation through an interaction with folate status. Proc Natl Acad Sci USA 99,5606-5611.
16. Gicquel C, Gaston V, Mandelbaum J, Siffroi JP, Flahault A and Le Bouc Y (2003) In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene. Am J Hum Genet 72,1338-1341.
17. Guenther BD, Sheppard CA, Tran P, Rozen R, Matthews RG and Ludwig ML (1999) The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia. Nat Struct Biol 6,359-365.
18. Haggarty P, McCallum H, McBain H, Andrews K, Duthie S, McNeill G, Templeton A, Haites N, Campbell D and Bhattacharya S (2006) Effect of B vitamins and genetics on success of in-vitro fertilisation: Prospective cohort study. Lancet 367,1513-1519.
19. Isotalo PA, Wells GA and Donnelly JG (2000) Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: An examination of C677T and A1298C mutations. Am J Hum Genet 67,986-990.
20. Jacob RA, Gretz DM, Taylor PC, James SJ, Pogribny IP, Miller BJ, Henning SM and Swendseid ME (1998) Moderate folate depletion increases plasma homocysteine and decreases lymphocyte DNA methylation in postmenopausal women. J Nutr 128,1204-1212.
21. Jencks DA and Mathews RG (1987) Allosteric inhibition of methylenetetrahydrofolate reductase by adenosylmethionine. Effects of adenosylmethionine and NADPH on the equilibrium between active and inactive forms of the enzyme and on the kinetics of approach to equilibrium. J Biol Chem 262,2485-2493.
22. Kang SS, Zhou J, Wong PW, Kowalisyn J and Strokosch G (1988) Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 43,414-421.
23. Khosla S, Dean W, Brown D, Reik W and Feil R (2001) Culture of preimplantation mouse embryos affects fetal development and the expression of imprinted genes. Biol Reprod 64,918-926.
24. Kim YI, Pogribny IP, Basnakian AG, Miller JW, Selhub J, James SJ and 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.
25. Kimura M, Umegaki K, Higuchi M, Thomas P and Fenech M (2004) Methylenetetrahydrofolate reductase C677T polymorphism, folic acid and riboflavin are important determinants of genome stability in cultured human lymphocytes. J Nutr 134,48-56.
26. Lee WJ and Zhu BT (2006) Inhibition of DNA methylation by caffeic acid and chlorogenic acid, two common catechol-containing coffee polyphenols. Carcinogenesis 27,269-277.
27. Lo RS, Said HM, Unger TF, Hollander D and Miledi R (1991) An endogenous carrier-mediated uptake system for folate in oocytes of Xenopus laevis. Proc Biol Sci 246,161-165.
28. Lucock M (2000) Folic acid: Nutritional biochemistry, molecular biology, and role in disease processes. Mol Genet Metab 71,121-138.
29. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W et al. (2003) Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet 40,62-64.
30. Matthews RG, Vanoni MA and Hainfeld JF (1984) Methylenetetrahydrofolate reductase. Evidence for spatially distinct subunit domains obtained by scanning transmission electron microscopy and limited proteolysis. J Biol Chem 259,11647-11650.
31. Nelen WL, Blom HJ, Thomas CM, Steegers EA, Boers GH and Eskes TK (1998) Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr 128,1336-1341.
32. Niemitz EL and Feinberg AP (2004) Epigenetics and assisted reproductive technology: A call for investigation. Am J Hum Genet 74,599-609.
33. Orstavik KH, Eiklid K, van der Hagen CB, Spetalen S, Kierulf K, Skjeldal O and Buiting K (2003) Another case of imprinting defect in a girl with Angelman syndrome who was conceived by intracytoplasmic semen injection. Am J Hum Genet 72,218-219.
34. van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP and Blom HJ (1998) A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural-tube defects? Am J Hum Genet 62,1044-1051.
35. Razin A and Shemer R (1995) DNA methylation in early development. Hum Mol Genet 4 Spec No, 1751-1755.
36. Ribas RC, Taylor JE, McCorquodale C, Mauricio AC, Sousa M and Wilmut I (2006) Effect of zona pellucida removal on DNA methylation in early mouse embryos. Biol Reprod 74,307-313.
37. Robien K and Ulrich CM (2003) 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: A HuGE minireview. Am J Epidemiol 157,571-582.
38. Shi W and Haaf T (2002) Aberrant methylation patterns at the two-cell stage as an indicator of early developmental failure. Mol Reprod Dev 63,329-334.
39. Stern LL, Mason JB, Selhub J and 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.
40. Szymanski W and Kazdepka-Zieminska A (2003) [Effect of homocysteine concentration in follicular fluid on a degree of oocyte maturity]. Ginekol Pol 74,1392-1396.
41. Ulvik A and Ueland PM (2001) Single nucleotide polymorphism (SNP) genotyping in unprocessed whole blood and serum by real-time PCR: application to SNPs affecting homocysteine and folate metabolism. Clin Chem 47, 2050-2053.
42. Weisberg I, Tran P, Christensen B, Sibani S and Rozen R (1998) A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol Genet Metab 64,169-172.
43. Young LE, Sinclair KD and Wilmut I (1998) Large offspring syndrome in cattle and sheep. Rev Reprod 3,155-163.
44. Young LE, Fernandes K, McEvoy TG, Butterwith SC, Gutierrez CG, Carolan C, Broadbent PJ, Robinson JJ, Wilmut I and Sinclair KD (2001) Epigenetic change in IGF2R is associated with fetal overgrowth after sheep embryo culture. Nat Genet 27,153-154.
45. Zetterberg H, Regland B, Palmer M, Ricksten A, Palmqvist L, Rymo L, Arvanitis DA, Spandidos DA and Blennow K (2002) Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur J Hum Genet 10,113-118.