MTHFR C677T AND A1298C GENOTYPES AND HAPLOTYPES IN SLOVENIAN COUPLES WITH UNEXPLAINED INFERTILITY PROBLEMS AND IN EMBRYONIC TISSUES FROM SPONTANEOUS ABORTIONS
Stangler Herodež Š1,*, Zagradišnik B1, Erjavec Škerget A1, Zagorac A1, Takač I2,3, Vlaisavljević V4, Lokar L5, Kokalj Vokač N1,2
*Corresponding Author: Dr. Špela Stangler Herodež, Laboratory of Medical Genetics, University Clinical Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia; Tel.: 386-2-321-27-37; Fax.: 386-2-321-27-55; E-mail: spela.sh@ukc-mb.si
page: 31

REFERENCES

1. de Krester DM. Male infertility. Lancet 1997; 349 (9054): 787-790. 2. Filipponi D, Feil R. Perturbation of genomic imprinting in oligozoospermia. Epigenetics. 2009; 4(1): 27-30. 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. 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. 5. Singh K, Singh SK, Raman R. MTHFR A1298C polymorphism and idiopathic male infertility. J Postgrad Med. 2010; 56(4): 267-269. 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. 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. 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. 9. Martinelli I. Risk factors in venous thromboembolism. Thromb Haemost. 2001; 86(1): 395-403. 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. 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. 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. 13. Coulam CB, Jeyendran RS. Thrombophilic gene polymorphisms are risk factors for unexplained infertility. Fertil Steril. 2009; 91(4): 1516-1517. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 24. Stangler Herodež Š, Zagradišnik B, Kokalj-Vokač N. MLPA method for PMP22 gene analysis. Acta Chim Slov. 2005; 52(2): 105-110. 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. 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. 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. 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. 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.



Number 26
Number 26 VOL. 26(2), 2023 All in one
Number 26
VOL. 26(2), 2023
Number 26
VOL. 26, 2023 Supplement
Number 26
VOL. 26(1), 2023
Number 25
VOL. 25(2), 2022
Number 25
VOL. 25 (1), 2022
Number 24
VOL. 24(2), 2021
Number 24
VOL. 24(1), 2021
Number 23
VOL. 23(2), 2020
Number 22
VOL. 22(2), 2019
Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006