MTHFR 677 C→T polymorphism and the risk of cardiac septal defects: A pilot study

Life Science Journal

Volumn 9, Issue 4, 2012, Pages 4272-4275

  Youssef, Omneya I ^a   El Sayed, Ghada M ^b  

^a AIN SHAMS UNIVERSITY   (Egypt)

^b CAIRO UNIVERSITY   (Egypt)

Author keywords

Congenital heart disease; Folic acid; MTHFR polymorphisms

Indexed keywords

EID: 84877083969     PISSN: 10978135     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Maschhoff K. (2004): Elucidating the genetic cause of congenital heart defects. Neo Reviews. 5(7):283-289.
2. Van Beynum IM, den Heijer M, Blom HJ, Kapusta L. (2007): The MTHFR 677C->T polymorphism and the risk of congenital heart defects: a literature review and meta-analysis. QJM. 100(12):743-53.
3. Zhu WL, Liy, Yan L, Dao J and Lis. (2006): Maternal and offspring MTHFR gene C677T polymorphism as predictors of congenital atrial septal defect and patent ducts arteriosus. Molecular Human Reproduction 1: 51-54
4. Hernandez-Diaz 5, Werler MM, Walker AM, Mitchell AA. (2000): Folic acid antagonists during pregnancy and the risk of birth defects. N Engl J Med. 343 (22): 1608-1614.
5. Jacques P F, Bostom A G, Williams R R, Ellison R C, Eckfeldt J H, Rosenberg IH, Selhub J, Rozen R. (1996): Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 93: 7-9.
6. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch H G, Kassenbohmer R, Heineking B, Nowak-Gottl U. (2001): Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res. 51: 251-254.
7. Storti S, Vittorini S, Lascone MR, Sacchelli M, Collavoli A, Ripoli A, Cocchi G, Biagini A, Cleric A. (2003): Association between 5, 10-methylenetetrahydrofolate reductase C677T and A 1298C polymorphisms and conotruncal heart defects. Clin Chern Lab Med. 41: 276-280
8. Frosst P, Blom H, Milos R, Goyette P, Sheppard CA, Matthews RG, BoersG JH, den Heijer M, Kluijtmans LAJ, van den Heuve LP, Rozen R. (1995): A Candidate Genetic Risk Factor for Vascular Disease: a Common Mutation in Methylenetetrahydrofolate Reductase. Nut Genet.10:111-113.
9. Deeparani T, Radkakrishma P and Elarazhagan T. (2009): Detection of MTHFR C677T and A1298C gene polymorphism in congenital heart disease. Middle East Journal of Scientific Research. 4(2): 127-132.
10. Lee CN, Suyn, Chen WF, Lin MT, Wang JK, Wu MH and Hsieh Fj. (2005): Association of the C677T methylene tehahydroflate neductase mutation with congenital heart disease. Acta Obstet Gynecol Scand. 4(12): 1134-1140.
11. van Beynum IM, Kapusta L, den Heijer M, Vermeulen SH, Kouwenberg M, Daniels O, Blom HJ. (2006): Maternal MTHFR 677C>T is a risk factor for congenital heart defects: effect modification bypericonceptional folate supplementation. Eur Heart J. 27:981-987.
12. McBride KL, Fernbach S, Menesses A, Molinari. L, Quay E, Pignatelli R, Towbin JA, Belmont JW. (2004): A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase. Birth Defects. Res A Clin Mol Teratol. 70(10):825-30.
13. Hobbs CA, James 5J, Parsian A, Krakowiak PA, Jernigan 5, Greenhaw JJ, Lu Y, Cleves MA. (2006): Congenital heart defects and genetic variants in the methylenetetrahydrofolate reductase gene. J Med Genet. 43(2):162-166.
14. Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM and Lammer EJ. (1995): Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am J Med Genet. 59:536-545.
15. Huhta JC, Hernandez-Robles JA. (2005): Homocysteine, folate, and congenital heart defects. Fetal Pediatr Pathol. Mar-Apr.24(2):71-9.