Maternal MTHFR A1298C Polymorphism: A Crucial Consideration in Preventing Recurrent Pregnancy Loss
PDF

Keywords

Early pregnancy loss
MTHFR, gene mutation
adverse pregnancy outcomes
Methylenetetrahydrofolate reductase A1298C
polymorphism

Abstract

Editorial

https://doi.org/10.15167/2421-4248/jpmh2024.65.1.3079
PDF

References

Roberts CT. IFPA Award in Placentology Lecture: Complicated interactions between genes and the environment in placentation, pregnancy outcome and long term health. Placenta. 2010 Mar;31 Suppl:S47-53. doi: 10.1016/j.placenta.2010.01.001.

Jankovic-Karasoulos T, Furness DL, Leemaqz SY, Dekker GA, Grzeskowiak LE, Grieger JA, Andraweera PH, McCullough D, McAninch D, McCowan LM, Bianco-Miotto T, Roberts CT. Maternal folate, one-carbon metabolism and pregnancy outcomes. Matern Child Nutr. 2021 Jan;17(1):e13064. doi: 10.1111/mcn.13064.

Liew SC, Gupta ED. Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet. 2015 Jan;58(1):1-10. doi: 10.1016/j.ejmg.2014.10.004.

Castiglia P, Sanna V, Azara A, De Miglio MR, Murgia L, Pira G, Sanges F, Fancellu A, Carru C, Bisail M, Muroni MR. Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms in breast cancer: a Sardinian preliminary case-control study. Int J Med Sci. 2019 Jul 22;16(8):1089-1095. doi: 10.7150/ijms.32162.

Turgal M, Gumruk F, Karaagaoglu E, Beksac MS. Methylenetetrahydrofolate Reductase Polymorphisms and Pregnancy Outcome. Geburtshilfe Frauenheilkd. 2018 Sep;78(9):871-878. doi: 10.1055/a-0664-8237.

Greenberg JA, Bell SJ, Guan Y, Yu YH. Folic Acid supplementation and pregnancy: more than just neural tube defect prevention. Rev Obstet Gynecol. 2011 Summer;4(2):52-9. Available from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218540/

Tsitsiou E, Sibley CP, D'Souza SW, Catanescu O, Jacobsen DW, Glazier JD. Homocysteine transport by systems L, A and y+L across the microvillous plasma membrane of human placenta. J Physiol. 2009 Aug 15;587(Pt 16):4001-13. doi: 10.1113/jphysiol.2009.173393.

Jansson T. Novel mechanism causing restricted fetal growth: does maternal homocysteine impair placental amino acid transport? J Physiol. 2009 Sep 1;587(Pt 17):4123. doi: 10.1113/jphysiol.2009.178327.

Kamudhamas A, Pang L, Smith SD, Sadovsky Y, Nelson DM. Homocysteine thiolactone induces apoptosis in cultured human trophoblasts: a mechanism for homocysteine-mediated placental dysfunction? Am J Obstet Gynecol. 2004 Aug;191(2):563-71. doi: 10.1016/j.ajog.2004.01.037.

Alfirevic Z, Roberts D, Martlew V. How strong is the association between maternal thrombophilia and adverse pregnancy outcome? A systematic review. Eur J Obstet Gynecol Reprod Biol. 2002 Feb 10;101(1):6-14. doi: 10.1016/s0301-2115(01)00496-1.

Centers for Disease Control and Prevention. MTHFR Gene, Folic Acid, and Preventing Neural Tube Defects. [Online]. 2002 Jun 15. [Cited on 2023 Jun 24]; Available from https://www.cdc.gov/ncbddd/folicacid/mthfr-gene-and-folic-acid.html.

Foka ZJ, Lambropoulos AF, Saravelos H, Karas GB, Karavida A, Agorastos T, Zournatzi V, Makris PE, Bontis J, Kotsis A (2000) Factor V leiden and prothrombin G20210A mutations, but not methylenetetrahydrofolate reductase C677T, are associated with recurrent miscarriages. Human Reprod (Oxford, England) 15(2):458–462

Rai V. Methylenetetrahydrofolate reductase gene A1298C polymorphism and susceptibility to recurrent pregnancy loss: a meta-analysis. Cell Mol Biol (Noisy-le-grand). 2014 Jun 27;60(2):27-34.

Yang Y, Luo Y, Yuan J, Tang Y, Xiong L, Xu M, Rao X, Liu H. Association between maternal, fetal and paternal MTHFR gene C677T and A1298C polymorphisms and risk of recurrent pregnancy loss: a comprehensive evaluation. Arch Gynecol Obstet. 2016 Jun;293(6):1197-211. doi: 10.1007/s00404-015-3944-2.

Nair RR, Khanna A, Singh R, Singh K. Association of maternal and fetal MTHFR A1298C polymorphism with the risk of pregnancy loss: a study of an Indian population and a meta-analysis. Fertil Steril. 2013 Apr;99(5):1311-1318.e4. doi: 10.1016/j.fertnstert.2012.12.027.

Kumar J, Das SK, Sharma P, Karthikeyan G, Ramakrishnan L, Sengupta S. Homocysteine levels are associated with MTHFR A1298C polymorphism in Indian population. J Hum Genet. 2005;50(12):655-63. doi: 10.1007/s10038-005-0313-1.

Gaskins AJ, Rich-Edwards JW, Hauser R, Williams PL, Gillman MW, Ginsburg ES, Missmer SA, Chavarro JE. Maternal prepregnancy folate intake and risk of spontaneous abortion and stillbirth. Obstet Gynecol. 2014 Jul;124(1):23-31. doi: 10.1097/AOG.0000000000000343.