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RESEARCH ARTICLES

Methylenetetrahydrofolate reductase gene polymorphisms are not associated with embryo chromosomal abnormalities and IVF outcomes

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Pages 270-280 | Received 04 Aug 2020, Accepted 05 Apr 2021, Published online: 30 May 2021

References

  • Alam MA, Husain SA, Narang R, Chauhan SS, Kabra M, Vasisht S. 2008. Association of polymorphism in the thermolabile 5, 10-methylene tetrahydrofolate reductase gene and hyperhomocysteinemia with coronary artery disease. Mol Cell Biochem. 310(1–2):111–117. doi:10.1007/s11010-007-9671-7.
  • Al-Hassan S, Hellani A, Al-Shahrani A, Al-Deery M, Jaroudi K, Coskun S. 2005. Sperm chromosomal abnormalities in patients with unexplained recurrent abortions. Arch Androl. 51(1):69–76. doi:10.1080/014850190518062.
  • Auton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, Korbel JO, Marchini JL, McCarthy S, McVean GA, Abecasis GR, et al. 2015. A global reference for human genetic variation. Nature. 526(7571):68–74.
  • Bae J, Shin SJ, Cha SH, Choi DH, Lee S, Kim NK. 2007. Prevalent genotypes of methylenetetrahydrofolate reductase (mthfr c677t and a1298c) in spontaneously aborted embryos. Fertil Steril. 87(2):351–355. doi:10.1016/j.fertnstert.2006.06.027.
  • Brönstrup A, Hages M, Prinz-Langenohl R, 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(5):1104–1110. doi:10.1093/ajcn/68.5.1104.
  • Di Nisio M, Rutjes AW, Ferrante N, Tiboni GM, Cuccurullo F, Porreca E. 2011. Thrombophilia and outcomes of assisted reproduction technologies: a systematic review and meta-analysis. Blood. 118(10):2670–2678. doi:10.1182/blood-2011-03-340216.
  • Dobson AT, Davis RM, Rosen MP, Shen S, Rinaudo PF, Chan J, Cedars MI. 2007. Methylenetetrahydrofolate reductase c677t and a1298c variants do not affect ongoing pregnancy rates following ivf. Hum Reprod. 22(2):450–456. doi:10.1093/humrep/del396.
  • Enciso M, Sarasa J, Xanthopoulou L, Bristow S, Bowles M, Fragouli E, Delhanty J, Wells D. 2016. Polymorphisms in the mthfr gene influence embryo viability and the incidence of aneuploidy. Hum Genet. 135(5):555–568. doi:10.1007/s00439-016-1652-z.
  • Fohr IP, Prinz-Langenohl R, Brönstrup A, Bohlmann AM, Nau H, Berthold HK, 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(2):275–282. doi:10.1093/ajcn/75.2.275.
  • Forges T, Monnier-Barbarino P, Alberto JM, Guéant-Rodriguez RM, Daval JL, Guéant JL. 2007. Impact of folate and homocysteine metabolism on human reproductive health. Hum Reprod Update. 13(3):225–238. doi:10.1093/humupd/dml063.
  • Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, Den Heijer M, Kluijtmans LA, Van Den Heuvel LP. 1995. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet. 10(1):111–113. doi:10.1038/ng0595-111.
  • Goyette P, Frosst P, Rosenblatt DS, Rozen R. 1995. Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency. Am J Hum Genet. 56(5):1052–1059.
  • Guo Q, Wang H, Yang K, Zhang B, Li T, Liao S. 2015. [association of mthfr and mtrr genes polymorphisms with non-disjunctions of chromosomes 18 and 21]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics. 32(3):395–399. doi:10.3760/cma.j..1003-9406.2015.03.021.
  • Han LJ, He XF, Ye XH. 2020. Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and male infertility risk: an updated meta-analysis. Med (Baltimore). 99(51):e23662. doi:10.1097/MD.0000000000023662.
  • Hassold TJ, Burrage LC, Chan ER, Judis LM, Schwartz S, James SJ, Jacobs PA, Thomas NS. 2001. Maternal folate polymorphisms and the etiology of human nondisjunction. Am J Hum Genet. 69(2):434–439. doi:10.1086/321971.
  • Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R. 1996. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 93(1):7–9. doi:10.1161/01.CIR.93.1.7.
  • Kaur A. 2013. Prevalence of methylenetetrahydrofolate reductase 677 c-t polymorphism among mothers of down syndrome children. Indian J Hum Genet. 19(4):412–414. doi:10.4103/0971-6866.124368.
  • Kim SY, Park SY, Choi JW, Kim DJ, Lee SY, Lim JH, Han JY, Ryu HM, Kim MH. 2011. Association between mthfr 1298a>c polymorphism and spontaneous abortion with fetal chromosomal aneuploidy. Am J Reprod Immunol. 66(4):252–258. doi:10.1111/j.1600-0897.2011.00996.x.
  • Lucock MD. 2006. Synergy of genes and nutrients: the case of homocysteine. Curr Opin Clin Nutr Metab Care. 9(6):748–756. doi:10.1097/01.mco.0000247468.18790.1e.
  • Melnyk S, Pogribna M, Pogribny IP, Yi P, James SJ. 2000. Measurement of plasma and intracellular s-adenosylmethionine and s-adenosylhomocysteine utilizing coulometric electrochemical detection: alterations with plasma homocysteine and pyridoxal 5ʹ-phosphate concentrations. Clin Chem. 46(2):265–272. doi:10.1093/clinchem/46.2.265.
  • Nelen WL, Blom HJ, Thomas CM, Steegers EA, Boers GH, 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(8):1336–1341. doi:10.1093/jn/128.8.1336.
  • Nelen WL, Steegers EA, Eskes TK, Blom HJ. 1997. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet. 350(9081):861. doi:10.1016/S0140-6736(97)24038-9.
  • Ni W, Li H, Wu A, Zhang P, Yang H, Yang X, Huang X, Jiang L. 2015. Lack of association between genetic polymorphisms in three folate-related enzyme genes and male infertility in the chinese population. J Assist Reprod Genet. 32(3):369–374. doi:10.1007/s10815-014-0423-9.
  • Patounakis G, Bergh E, Forman EJ, Tao X, Lonczak A, Franasiak JM, Treff N, Scott RT. 2016. Multiple thrombophilic single nucleotide polymorphisms lack a significant effect on outcomes in fresh ivf cycles: an analysis of 1717 patients. J Assist Reprod Genet. 33(1):67–73. doi:10.1007/s10815-015-0606-z.
  • Petit FM, Frydman N, Benkhalifa M, Le Du A, Aboura A, Fanchin R, Frydman R, Tachdjian G. 2005. Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection? J Androl. 26(2):235–241. doi:10.1002/j.1939-4640.2005.tb01090.x.
  • Quere I, Bellet H, Hoffet M, Janbon C, Mares P, Gris JC. 1998. A woman with five consecutive fetal deaths: case report and retrospective analysis of hyperhomocysteinemia prevalence in 100 consecutive women with recurrent miscarriages. Fertil Steril. 69(1):152–154. doi:10.1016/S0015-0282(97)00451-2.
  • Rai V. 2014. Methylenetetrahydrofolate reductase gene a1298c polymorphism and susceptibility to recurrent pregnancy loss: a meta-analysis. Cell Mol Biol (Noisy-le-grand). 60(2):27–34.
  • Ramasamy R, Scovell JM, Kovac JR, Cook PJ, Lamb DJ, Lipshultz LI. 2015. Fluorescence in situ hybridization detects increased sperm aneuploidy in men with recurrent pregnancy loss. Fertil Steril. 103(4):906–909.e901. doi:10.1016/j.fertnstert.2015.01.029.
  • Rodrigo L, Meseguer M, Mateu E, Mercader A, Peinado V, Bori L, Campos-Galindo I, Milán M, García-Herrero S, Simón C, et al. 2019. Sperm chromosomal abnormalities and their contribution to human embryo aneuploidy. Biol Reprod. 101(6):1091–1101. doi:10.1093/biolre/ioz125
  • Rodrigo L, Rubio C, Peinado V, Villamón R, Al-Asmar N, Remohí J, Pellicer A, Simón C, Gil-Salom M. 2011. Testicular sperm from patients with obstructive and nonobstructive azoospermia: aneuploidy risk and reproductive prognosis using testicular sperm from fertile donors as control samples. Fertil Steril. 95(3):1005–1012. doi:10.1016/j.fertnstert.2010.10.022.
  • Safdarian L, Najmi Z, Aleyasin A, Aghahosseini M, Rashidi M, Asadollah S. 2014. Recurrent ivf failure and hereditary thrombophilia. Iran J Reprod Med. 12(7):467–470.
  • Silber S, Escudero T, Lenahan K, Abdelhadi I, Kilani Z, Munné S. 2003. Chromosomal abnormalities in embryos derived from testicular sperm extraction. Fertil Steril. 79(1):30–38. doi:10.1016/S0015-0282(02)04407-2.
  • Soligo AG, Barini R, Annichino-Bizzacchi JM. 2017. Prevalence of the mthfr c677t mutation in fertile and infertile women. Rev Bras Ginecol Obstet. 39(12):659–662. doi:10.1055/s-0037-1606289.
  • Szymański W, Kazdepka-Ziemińska A. 2003. [effect of homocysteine concentration in follicular fluid on a degree of oocyte maturity]. Ginekol Pol. 74(10):1392–1396.
  • Thaler CJ. 2014. Folate metabolism and human reproduction. Geburtshilfe Frauenheilkd. 74(9):845–851. doi:10.1055/s-0034-1383058.
  • Van Der Put NM, Gabreëls F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, Van Den Heuvel LP, 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(5):1044–1051. doi:10.1086/301825.
  • Vialard F, Hammoud I, Molina-Gomes D, Wainer R, Bergere M, Albert M, Bailly M, De Mazancourt P, Selva J. 2008. Gamete cytogenetic study in couples with implantation failure: aneuploidy rate is increased in both couple members. J Assist Reprod Genet. 25(11–12):539–545. doi:10.1007/s10815-008-9258-6.
  • Weisberg I, Tran P, Christensen B, Sibani S, Rozen R. 1998. A second genetic polymorphism in methylenetetrahydrofolate reductase (mthfr) associated with decreased enzyme activity. Mol Genet Metab. 64(3):169–172. doi:10.1006/mgme.1998.2714.
  • Wouters MG, Boers GH, Blom HJ, Trijbels FJ, Thomas CM, Borm GF, Steegers-Theunissen RP, Eskes TK. 1993. Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss *†*Supported by grant number 28.1006.1 from Praeventiefonds, The Hague, The Netherlands.†presented at the 40th annual meeting of society for gynecologic investigation, Toronto, Canada, March 31 to April 3, 1993. Fertil Steril. 60(5):820–825. doi:10.1016/S0015-0282(16)56282-7.
  • Wu X, Zhao L, Zhu H, He D, Tang W, Luo Y. 2012. Association between the mthfr c677t polymorphism and recurrent pregnancy loss: a meta-analysis. Genet Test Mol Biomarkers. 16(7):806–811. doi:10.1089/gtmb.2011.0318.

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