Methylenetetrahydrofolate reductase gene A1298C polymorphism and susceptibility to recurrent pregnancy loss: A meta-analysis

Cellular and Molecular Biology

Volumn 60, Issue 2, 2014, Pages 27-34

  Rai, V ^a  

^a VEER BAHADUR SINGH PURVANCHAL UNIVERSITY   (India)

Author keywords

A1298C; Hyperhomocysteinemia; Meta analysis; MTHFR; Recurrent early pregnancy loss; Spontaneous abortion

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MTHFR PROTEIN, HUMAN;

ARTICLE; DATA BASE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; PREGNANCY TERMINATION; PROSPECTIVE STUDY; RECURRENT DISEASE; RISK FACTOR; SPONTANEOUS ABORTION; ALLELE; DISEASE PREDISPOSITION; FEMALE; GENETICS; META ANALYSIS; PREGNANCY; RISK; SINGLE NUCLEOTIDE POLYMORPHISM;

ABORTION, SPONTANEOUS; ALLELES; DISEASE SUSCEPTIBILITY; FEMALE; GENOTYPE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY;

EID: 84918595487     PISSN: 01455680     EISSN: 1165158X     Source Type: Journal    
DOI: 10.14715/cmb/2014.60.2.5     Document Type: Article

References (59)

1. Stirrat, G.M. Recurrent miscarriage: definition and epidemiology. Lancet 1990, 336:673-675. doi: 10.1016/0140-6736(90)92159-F
2. Berry, C.W., Bramabati, B., Eskes, T.K.A.B., Exalto, N., Fox, H., Geraedts, JP.M., Gerhard, I., Gomes, G.F., Grudzinskas, J.G., and Hustine, J. et al., The Euro- Team Early Pregnancy (ETEP) protocol for recurrent miscarriage. Hum. Reprod. 1995, 10:1516-1520. doi: 10.1093/HUMREP/10.6.1516
3. Bricker, L., and Farquharson, R.G., Types of pregnancy loss in recurrent miscarriage: implications for research and clinical practice. Hum. Reprod. 2002, 17:1345-1350. doi: 10.1093/humrep/17.5.1345
4. Cook, C.L., and Pridham, D.D. Recurrent pregnancy loss. Curr. Opin. Obstet. Gynecol. 1995, 7:357-366. doi: 10.1097/00001703-199510000-00006
5. Younis, J.S., Ohel, G., Brenner, B., and Ben-Ami, M. Familial thrombophilia-the scientific rationale for thrombophylaxis in recurrent pregnancy loss? Hum. Repro. 1997, 12:1389-1390. doi: 10.1093/humrep/12.7.1389
6. Brigham, S.A., Conlon, C., and Farquharson, R.G., A longitudinal study of pregnancy outcome following idiopathic recurrent miscarriage. Hum. Reprod. 1999, 14:2868-2871. doi: 10.1093/humrep/14.11.2868
7. Andersen, A.M.N., Wohlfahrt, J., Christens, P., and Melbye, M., Maternal age and fetal loss: population based register linkage study. B.M.J. 2000, 320:1708-1712. doi: 10.1136/bmj.320.7251.1708
8. Clifford, K., Rai, R., Watson, H., and Regan, L. An informative protocol for the investigation of recurrent miscarriage: Preliminary experience of 500 consecutive cases. Hum. Reprod. 1994, 9:1328-1332.
9. Steegers-Theunissen, R.P.M., Boers, G.H.J., Blom, H.J., Trijbels, F.J.M., and Eskes, T.K.A.B. Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae. Lancet 1992, 339: 1122-1123. doi: 10.1016/0140-6736(92)90725-I
10. Wouters, M.G., Boers, G.H., Blom, H.J., Trijbels, F.J., Thomas, C.M., and Borm, G.F. Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril 1993, 60(5):820-825.
11. Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J., den Heijer, M., Kluijtmans, L.A., and van den Heuvel, L.P., et al. A candidate genetic risk factor for vascular disease: a common mutation inmethylenetetrahydrofolate reductase. Nat. Genet. 1995, 10:111-113.
12. Robien, K., and Ulrich, C.M. 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: a HuGE minireview. Am. J. Epidemiol. 2003, 157:571-82. doi: 10.1093/aje/kwg024
13. Sharp, L., and Little, J. Polymorphism in genes involved in folate metabolism and colorectal neoplasia: a HuGE review. Am. J. Epidemiol. 2004, 159:423-43. doi: 10.1093/aje/kwh066
14. Hobbs, C.A., Sherman, S.I., Yi, P., Hopkins, S.E., Torfs, C.P., Hine, R.J., Pogribna, M., Rozen, R., and James, S.J. Polymorphism in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am. J. Hum. Genet. 2000, 67: 623-630. doi: 10.1086/303055
15. Van der Put, N.M.J., Eskes, T.K.A.B., and Blom, H.J. Is the common 677CT mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. Q. J. Med. 1997, 90: 111-115.
16. Lee, H.C., Jeong, Y.M., Lee, S.H., Cha, K.Y., Song, S.H., Kim, N.K., Lee, K.W., and Lee, S. Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility. Hum. Reprod. 2006, 21: 3162-70. doi: 10.1093/humrep/del280
17. Weisberg, I., Tran, P., Christensen, B., Sibani, S., and Rozen, R. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol. Genet. Metab. 1998, 64:169-172. doi: 10.1006/mgme.1998.2714
18. Friedman, G., Goldschmidt, N., Friedlander, Y., Ben-Yehuda, A., Selhub, J., and Babaey, S., et al. A common mutation A1298C in human methylenetetrahydrofolate reductase gene: association with plasma total homocysteine and folate concentrations. J. Nutr. 1999, 129:1656-61.
19. Botto, L.D., and Yang, Q., 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am. J. Epidemiol. 2000, 151: 862-877. doi: 10.1093/oxfordjournals.aje.a010290
20. Robien, K., and Ulrich, C.M. 5,10- Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: a HuGE minireview. Am. J. Epidemiol. 2003, 157:571-82. doi: 10.1093/aje/kwg024
21. Feng, M., Li, H., Chen, S.F., Li, W.F., and Zhang, F.B., Polymorphisms in the vitamin D receptor gene and risk of autoimmune thyroid diseases: a meta-analysis. Endocrine. 2013, 43:318-326. doi: 10.1007/s12020-012-9812-y
22. Mantel, N., and Haenszel, W. Statistical aspects of the analysis of data from retrospective studies of disease. J. Natl. Cancer Inst. 1959, 22:719-48.
23. DerSimonian, R., and Laird, N. Meta-analysis in clinical trials. Control Clin. Trials. 1986, 7:177-88. doi: 10.1016/0197-2456(86)90046-2
24. Egger, M., Davey Smith, G., and Schneider, M. et al. Bias in meta-analysis detected by a simple, graphical test. B.M.J. 1997, 315:629-34. doi: 10.1136/bmj.315.7109.629
25. Bax, L., Yu, L.M., and Ikeda, N. et al. Development and validation of MIX: comprehensive free software for meta-analysis of causal research data. BMC Med Res Methodo. 2006, 6: 50.
26. Mitraoui, N., Zammiti, W., Ghazouani, L., Jmili Braham, N., Saidi, S., Finan, R.R., Almawi, W.Y., and Mahjoub, T. Methylenetetrahydrofolate reductase C677T and A1298C polymorphism and changes in homocysteine concentrations in women with idiopathic recurrent pregnancy loss. Reproduction 2006, 131: 395-401. doi: 10.1530/rep.1.00815
27. Sotiriadis A, Vartholomatos G, Pavlou M, Kolaitis N, Dova L, Stefos T, Paraskevaidis E, Kalantaridou SN. Combined thrombophilic mutations in women with unexplained recurrent miscarriage. Am. J. Repro. Immunology 2007, 57:133-141. doi: 10.1111/j.1600-0897.2006.00454.x
28. Wang, X., Ma, Z., and Lin, Q. Inherited thrombophilia in recurrent spontaneous abortion among Chinese women. Int. J. Gynec. Obst. 2006, 92: 264-265. doi: 10.1016/j.ijgo.2005.12.008
29. Callijon, G., Mayor-Olea, A., Jimanez, A.J., Gaitn, M.J., Palomares, A.R., Martanez, F., Ruiz, M., and Reyes-Engel, A. Genotypes of C677T and A1298C polymorphisms of the MTHFR gene as acause of human spontaneous embryos loss. Human. Repro. 2007, 22:3249-3254.
30. Ciacci, C., Tortora, R., Scudiero, O., Di Fiore, R., Salvatore, F., and Castaldo, G. Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia. Dig. Live.r Dis. 2009, 41(10):717-20. doi: 10.1016/j.dld.2009.02.050
31. Jeddi-Tehrani, M., Torabi, R., Zarnani, A.H., Mohammadzadeh, A., Arefi, S., and Zeraati, H., et al. Analysis of plasminogen activator inhibitor-1, integrin beta3, Beta fibrinogen, and methylenetetrahydrofolate reductase polymorphisms in Iranian women with recurrent pregnancy loss. Am. J. Reprod. Immunol. 2011, 66(2):149-56. doi: 10.1111/j.1600-0897.2010.00974.x
32. Kim, S.Y., Park, S.Y., Choi, J.W., Kim, D.J., Lee, S.Y., Lim, J.H., Han, J.Y., Ryu, H.M., and Kim MH. Association Between MTHFR 1298A>C Polymorphism and Spontaneous Abortion with Fetal Chromosomal Aneuploidy. Am. J. Repro. Immu. 2011, 66: 252-258. doi: 10.1111/j.1600-0897.2011.00996.x
33. Settin, A., Elshazli, R., and Salama, A., et al. Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian women with unexplained recurrent pregnancy loss. Genet. Test. Mol. Biomarkers. 2011, 15:887-892. doi: 10.1089/gtmb.2011.0049
34. Dissanayake, V.H.W., Sirisena, N.D., Weerasekera, L.Y., Gammulla, C.G., Seneviratne, H.R., and Jayasekara, R.W. Candidate gene study of genetic thrombophilic polymorphisms in pre-eclampsia and recurrent pregnancy loss in Sinhalese women. J. Obstet. Gynaecol. Res. 2012, 38:1168-1176. doi: 10.1111/j.1447-0756.2012.01846.x
35. Ozdemir, O., Yenicesu, G.I., Silan, F., K€oksal, B., Atik, S., and Ozen, F, et al. Recurrent pregnancy loss and its relation to combined parental thrombophilic gene mutations. Genet. Tes.t Mol. Biomarker.s 2012, 16:279-86. doi: 10.1089/gtmb.2011.0191
36. Torabi, R., Zarei, S., Zeraati, H., Zarnani, A.H., Akhondi MM, Hadavi R, Shiraz ES, Jeddi-Tehrani M. Combination of Thrombophilic Gene Polymorphisms as a Cause of Increased the Risk of Recurrent Pregnancy Loss. J. Reprod. Infertil. 2012, 13(2):89-94.
37. Zonouzi, A.P., Chaparzadeh, N., Estiar, M.A., Sadaghiani, M.M., Farzadi, L., Ghasemzadeh, A., Sakhinia, M., and Sakhinia, E. Methylenetetrahydrofolate Reductase C677T and A1298C Mutations inWomen with Recurrent Spontaneous Abortions in the Northwest of Iran. I.S.R.N. Obst. Gynec. 2012, Article ID 945486, 6.
38. Herodež, Š., Zagradišnik, B., Erjavec Škerget, A., Zagorac, A., Takač, I., and savljević, V., et al. MTHFR C677T and A1298C genotypes and haplotypes in Slovenian couples with unexplained infertility problems and in embryonic tissues from spontaneous abortions. BJMG. 2013, 16: 31-40.
39. Nair, R.R., Khanna,A.,Singh, R., and Singh R. Association of maternal and fetal MTHFR A1298C polymorphism with the risk of pregnancy loss: a study of an Indian population and a meta-analysis. Fertility and Sterility 2013, 99:0015-0282. doi: 10.1016/j.fertnstert.2012.12.027
40. Parveen, F., Tuteja, M., and Agrawal, S. Polymorphisms in MTHFR, MTHFD, and PAI-1 and recurrent miscarriage among North Indian women. Arch. Gynecol. Obstet. 2013, 288:1171-1177. doi: 10.1007/s00404-013-2877-x
41. Hefler, L., Jirecek,S., Heim, K., Grimm, C., Antensteiner, G., Zeillinger, R., Husslein, P., and Tempfer, C. Genetic Polymorphisms Associated With Thrombophilia and Vascular Disease in Women With Unexplained Late Intrauterine Fetal Death: A Multicenter Study. Journal of the Society for Gynecologic Investigation 2004, 11: 42-44. doi: 10.1016/j.jsgi.2003.07.008
42. Lino, F.L., Traina, E., Barreto, J.A., Moron, A.F., and Mattar, R. Thrombophilic Mutations and Polymorphisms, Alone or in Combination, and Recurrent Spontaneous Abortion. Clin. App. Throm. 2014, doi: 10.1177/1076029613520465.
43. Cao, Y., Xu, J., Zhang, Z., Huang, X., Zhang, A., and Wang, J., et al., Association studybetween methylenetetrahydrofolate reductase polymorphisms and unexplained recurrentpregnancy loss: a meta-analysis. Gene. 2013, 514(2):105-11.
44. Cao, Y., Zhang, Z., Zheng, Y., Yuan, W., Wang, J., Liang, H., Chen, J., Du, J., and Shen, Y. The association of idiopathic recurrent early pregnancy loss with polymorphisms in folic acid metabolism-relatedgenes. Genes Nutr. 2014, 9(3):402.
45. Isaoglu, U., Ulug, P., Delibas, I.B., Yilmaz, M., Kumtepe, Y., Dogan, H., and Tasdemir, S. The association between inherited thrombophilia and recurrent pregnancy loss in Turkish women. Clin Exp Obstet Gynecol. 2014, 41(2):177-81.
46. Van der Molen, E.F., Arends, G.E., Nelen, W.L., Van der Put, N.J., Heil, S.G., Eskes, T.K., and Blom, H.J. A common mutation in the 5,10-methylenetetrahydrofolate reductase gene as a new risk factor for placental vasculopathy. Am. J. Obst. Gynec. 2000, 182: 1258-1263. doi: 10.1067/mob.2000.105199
47. Lachmejer, A.M., Arngrimsson, R., Bastiaans, E.J., Pals, G., Ten Kate, L.P., de Vries, J.I., Kostense, P.J., Aarnoudse, J.G., and Dekker, G.A. Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia. Am. J. Obs. Gyn. 2001, 184: 394-402. doi: 10.1067/mob.2001.109393
48. Murakami, S., Matsubara, N., Saitoh, M., Miyakaw, S., Shoji, M., and Kubo, T. The relation between plasma homocysteine concentration and methylenetetrahydrofolate reductase gene polymorphism in pregnant women. J. Obst. Gynae. Res. 2001, 27: 349-352. doi: 10.1111/j.1447-0756.2001.tb01284.x
49. Zetterberg, H. Methylenetetrahydrofolate reductase and transcobalamin genetic polymorphisms in human spontaneous abortion: biological and clinical implications. Reprod. Biol. Endocrinol. 2004, 2:7-14.
50. Ray, J., and Laskin, C. Folic acid and homocyst(e)ine metabolic defects and the risk of placental abruption, pre-eclampsia and spontaneous pregnancy loss: a systematic review. Placenta 1999, 20:519-29. doi: 10.1053/plac.1999.0417
51. Nelen, W.L., Blom, H.J., Steegers, E.A., den Heijer, M., and Eskes, T.K. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta-analysis. Fertility and Sterility 2000, 74: 1196-1199. doi: 10.1016/S0015-0282(00)01595-8
52. Nelen, W.L., Blom, H.J., Steegers, E.A., den Heijer, M., Thomas, C.M., and Eskes, T.K. Homocysteine and folate levels as risk factors for recurrent early pregnancy loss. Obstetrics and Gynaecology 2000, 95: 519-524. doi: 10.1016/S0029-7844(99)00610-9
53. Nelen, W.L., Bulten, J., Steegers, E.A., Blom, H.J., Hanselaar, A.G., and Eskes, T.K. Maternal homocysteine and chorionic vascularization in recurrent early pregnancy loss. Hum. Reprod. 2000, 15:954-60. doi: 10.1093/humrep/15.4.954
54. Zintzaras, E. Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis. J. Hum. Genet. 2007, 52: 943-953. doi: 10.1007/s10038-007-0202-x
55. Zintzaras, E., Chatzoulis, D.Z., Karabatsas, C.H., and Stefanidis, I. The relationship between C677T methylenetetrahydrofolate reductase gene polymorphism and retinopathy in type 2 diabetes: a meta-analysis. J. Hum. Genet. 2005, 50:267-275. doi: 10.1007/s10038-005-0250-z
56. Zintzaras, E. Association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms with genetic susceptibility to gastric cancer: a meta-analysis. J. Hum. Genet. 2006, 51:618-624. doi: 10.1007/s10038-006-0405-6
57. Zintzaras, E. Methylenetetrahydrofolate reductase gene and susceptibility to breast cancer: a meta-analysis. Clin. Genet. 2006, 69:327-336. doi: 10.1111/j.1399-0004.2006.00605.x
58. Zintzaras, E. C677T and A1298C methylenetetrahydrofolate reductase gene polymorphisms in schizophrenia, bipolar disorder and depression: a meta-analysis of genetic association studies. Psychiatr. Genet. 2006, 16:105-115. doi: 10.1097/01.ypg.0000199444.77291.e2
59. Zintzaras, E., Koufakis, T., Ziakas, P.D., Rodopoulou, P., Giannouli, S., and Voulgarelis, M. A meta-analysis of genotypes and haplotypes of methylenetetrahydrofolate reductase gene polymorphisms in acute lymphoblastic leukemia. Eur. J. Epidemiol. 2006, 21:501-510. doi: 10.1007/s10654-006-9027-8