MTHFR C677T and A1298C Genotypes and Haplotypes in Slovenian Couples with Unexplained Infertility Problems and in Embryonic Tissues from Spontaneous Abortions

1. de Krester DM. Male infertility. Lancet 1997; 349 (9054): 787-790.10.1016/S0140-6736(96)08341-9Search in Google Scholar

2. Filipponi D, Feil R. Perturbation of genomic imprinting in oligozoospermia. Epigenetics. 2009; 4(1): 27-30.10.4161/epi.4.1.731119106644Search in Google Scholar

3. Boivin J, Bunting L, Collins JA, Nygren K. An international estimate of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod. 2007; 22(6): 1506-1512.10.1093/humrep/dem04617376819Search in Google Scholar

4. Jeehyeon B, Seung Joo S, Sun Hee C, Dong Hee C, Suman L, Nam Keun K. Prevalent genotypes of methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in spontaneously aborted embryos. Fertil Steril. 2007; 87(2): 351-355.10.1016/j.fertnstert.2006.06.02717094971Search in Google Scholar

5. Singh K, Singh SK, Raman R. MTHFR A1298C polymorphism and idiopathic male infertility. J Postgrad Med. 2010; 56(4): 267-269.10.4103/0022-3859.7093520935396Search in Google Scholar

6. Eloualid A, Abidi O, Charif M, El Houate B, Benrahma H, Louanjli N, et al. Association of the MTHFR A1298C variant with unexplained severe male infertility. PLoS One 2012; 7: e34111.10.1371/journal.pone.0034111331158022457816Search in Google Scholar

7. Safarinejad MR, Shafiei N, Safarinejad S. Relationship between genetic polymorphisms of methylenetetrahydrofolate reductase (C677T, A1298C, and G1793A) as risk factors for idiopathic male infertility. Reprod Sci. 2011; 18(3): 304-315.10.1177/193371911038513520978181Search in Google Scholar

8. Ouxi S, Renping L, Wei W, Lugang Y, Xinru W. Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with male infertility: a meta-analysis. Ann Hum Genet. 2012; 76(1): 25-32.10.1111/j.1469-1809.2011.00691.x22175540Search in Google Scholar

9. Martinelli I. Risk factors in venous thromboembolism. Thromb Haemost. 2001; 86(1): 395-403.10.1055/s-0037-1616237Search in Google Scholar

10. Fatini C, Gensini F, Battaglini B, Prisco D, Cellai AP, Fedi S. Angiotensin convertine enzyme DD genotype, angiotensin type I receptor CC genotype, and hyperhomo-cysteinemia increase first-trimester fetal-loss susceptibility. Blood Coagul Fibrinol. 2000; 11(7): 657-662.10.1097/00001721-200010000-0001011085286Search in Google Scholar

11. Wouters MG, Boers GH, Blom HJ, Trijbels FJ, Thomas CM, Borm GF. Hyperhomocysteinemia: a risk factor in woman with unexplained recurrent early pregnancy loss. Fertil Steril. 1993; 60(5): 820-825.10.1016/S0015-0282(16)56282-7Search in Google Scholar

12. Steegers-Theunissen RP, Boers GH, Trijbels FJ, Finkelstein JD, Blom HJ, Thomas CM, et al. Maternal hyperhomocysteinemia: a risk factor for neural-tube defects? Metabolism. 1994; 43(12): 1475-1480.10.1016/0026-0495(94)90004-3Search in Google Scholar

13. Coulam CB, Jeyendran RS. Thrombophilic gene polymorphisms are risk factors for unexplained infertility. Fertil Steril. 2009; 91(4): 1516-1517.10.1016/j.fertnstert.2008.07.1782Search in Google Scholar

14. Stegmann K, Ziegler A, Ngo ET, Kohlschmidt N, Schröter B, Ermert A, et al. Linkage disequilibriumof MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects (NTD). Am J Med Genet. 1999; 87(1): 23-29.10.1002/(SICI)1096-8628(19991105)87:1<23::AID-AJMG5>3.0.CO;2-ESearch in Google Scholar

15. Zetterberg H, Regland B, Palmer M, Ricksten A, Palmqvist L, Rymo L, et al. Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur J Hum Genet. 2002; 10(2): 113-118.10.1038/sj.ejhg.5200767Search in Google Scholar

16. Isotalo PA, Wells GA, Donnelly JG. Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations. Am J Hum Genet. 2000; 67(4): 986-990.10.1086/303082Search in Google Scholar

17. Volcik KA, Blanton SH, Northrup H. Examinations of methylenetetrahydrofolate reductase C677T and A1298C mutations - and in utero viability. Am J Hum Genet. 2001; 69(5): 1150-1153.10.1086/324066Search in Google Scholar

18. Christiansen OB, Nielsen HS, Kolte A, Pedersen AT. Research methodology and epidemiology of relevance in recurrent pregnancy loss. Semin Reprod Med. 2006; 24(1): 5-16.10.1055/s-2006-931796Search in Google Scholar

19. Ren A, Wang J. Methylenetetrahydrofolate reductase C677T polymorphism and the risk of unexplained recurrent pregnancy loss: a metaanalysis. Fertil Steril. 2006; 86(6): 1716-1722.10.1016/j.fertnstert.2006.05.052Search in Google Scholar

20. Azem F, Many A, Ben Ami I, Yovel I, Amit A, Lessing JB, et al. Increased rates of thrombophilia in woman with repeated IVF failures. Hum Reprod. 2004; 19(2): 368-370.10.1093/humrep/deh069Search in Google Scholar

21. Qublan HS, Eid SS, Ababnneh HA, Amarin ZO, Smadi AZ, Al-Khafaji FF, et al. Acquired and inherited thrombophilia: implication in recurent IVF and embryo transfer failure. Hum Reprod. 2006; 21(10): 2694-2698.10.1093/humrep/del20316835215Search in Google Scholar

22. Ogino S, Wilson RB. Genotype and haplotype distributions of MTHFR 677C>T and 298A>C single nucleotide polymorphisms: a meta-analysis. J Hum Genet. 2003; 48(1): 1-7.10.1007/s10038030000012560871Search in Google Scholar

23. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988; 16(3): 1215.10.1093/nar/16.3.12153347653344216Search in Google Scholar

24. Stangler Herodež Š, Zagradišnik B, Kokalj-Vokač N. MLPA method for PMP22 gene analysis. Acta Chim Slov. 2005; 52(2): 105-110.Search in Google Scholar

25. Kovalevsky G, Gracia CR, Berlin JA, Sammel MD, Barnhart KT. Evaluation of the association between hereditary thrombophilias and recurrent pregnancy loss: a meta analysis. Acta Intern Med. 2004; 164(5): 558-563.10.1001/archinte.164.5.55815006834Search in Google Scholar

26. Freitas AI, Mendonça I, Guerra G, Brión M, Reis RP, Carracedo A, et al. Methylenetetrahydrofolate reductase gene, homocysteine and coronary artery disease: the A1298C polymorphism does matter: Inferences from a case study (Maderira, Portugal). Thromb Res. 2008; 122 (5): 648-656.10.1016/j.thromres.2008.02.00518384842Search in Google Scholar

27. Settin A, Elshazli R, Salama A, El Baz R. Methylenetetrahydrofolate reductase gene polymorphisms in Egyptian women with unexplained recurrent pregnancy loss. Genet Test Mol Biomarkers. 2011; 15(12): 887-892.10.1089/gtmb.2011.004921815801Search in Google Scholar

28. Rotondo JC, Bosi S, Bazzan E, Di Domenico M, De Mattei M, Selvatici R, et al. Methylenetetrahydrofolate reductase gene promoter hypermethylation in semen samples of infertile couples correlates with recurrent spontaneous abortion. Hum Reprod. 2012; 27(12): 3632-3638.10.1093/humrep/des31923010533Search in Google Scholar

29. Wu W, Shen O, Qin Y, Niu X, Lu C, Xia Y, et al. Idiopathic male infertility is strongly associated with aberrant promoter methylation of methylenetetrahydrofolate reductase (MTHFR). PloS One 2010; 5: e13884. 10.1371/journal.pone.0013884297670321085488Search in Google Scholar