MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome

Pediatrics International

Volumn 53, Issue 4, 2011, Pages 546-550

  Babić Božović, Ivana ^a   Vraneković, Jadranka ^a   Starčević Čizmarević, Nada ^a   Mahulja Stamenković, Vesna ^b   Prpić, Igor ^b   Brajenović Milić, Bojana ^a  

^a UNIVERSITY OF RIJEKA   (Croatia)

^b KBC RIJEKA   (Croatia)

Author keywords

congenital heart defect; Down syndrome; MTHFR polymorphisms

Indexed keywords

METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

ADULT; ALLELE; ARTICLE; CHILD; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; CROATIA; DNA POLYMORPHISM; DOWN SYNDROME; FEMALE; GENE FREQUENCY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; TRISOMY 21;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CROATIA; DOWN SYNDROME; FEMALE; GENE FREQUENCY; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); POLYMORPHISM, GENETIC; RISK FACTORS; YOUNG ADULT;

EID: 80051999145     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/j.1442-200X.2010.03310.x     Document Type: Article

References (35)

1. Roizen NJ, Patterson D,. Down's syndrome. Lancet 2003; 36: 1281-9. (Pubitemid 36428586)
2. Shapiro BL,. Down syndrome: A disruption of homeostasis. Am. J. Med. Genet. 1983; 14: 241-69.
3. Botto LD, Correa A, Erickson JD,. Racial and temporal variations in the prevalence of heart defects. Pediatrics 2001; 107: E32.
4. Sadowski SL,. Congenital cardiac disease in the newborn infant: Past, present, and future. Crit. Care Nurs. Clin. North Am. 2009; 21: 37-48.
5. Torfs CP, Christianson RE,. Anomalies in Down syndrome individuals in a large population-based registry. Am. J. Med. Genet. 1998; 77: 431-8. (Pubitemid 28283692)
6. Freeman SB, Bean LH, Allen EG, et al,. Ethnicity, sex, and the incidence of congenital heart defects: A report from the National Down Syndrome Project. Genet. Med. 2008; 10: 173-80. (Pubitemid 351416813)
7. Shaw GM, O'Malley CD, Wasserman CR, et al,. Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring. Am. J. Med. Genet. 1995; 59: 536-45.
8. Kapusta L, Haagmans ML, Steegers EA, et al,. Congenital heart defects and maternal derangement of homocysteine metabolism. J. Pediatr. 1999; 135: 773-4. (Pubitemid 30180432)
9. Botto LD, Correa A,. Decreasing the burden of congenital heart anomalies: An epidemiologic evaluation of risk factors and survival. Prog. Pediatr. Cardiol. 2003; 18: 111-21. (Pubitemid 37415273)
10. Meijer WM, de Walle HEK, Kerstjens-Frederikse WS, et al,. Folic acid sensitive birth defects in association with intrauterine exposure to folic acid antagonists. Reprod. Toxicol. 2005; 20: 203-7. (Pubitemid 40725069)
11. van Beynum IM, Kapusta L, Bakker MK, et al,. Protective effect of periconceptional folic acid supplements on the risk of congenital heart defect: A registry-based case-control study in the northern Netherlands. Eur. Heart J. 2010; 31: 464-71.
12. Botto LD, Yang Q,. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review. Am. J. Epidemiol. 2000; 151: 862-77. (Pubitemid 30461127)
13. Frosst P, Blom HJ, Milos R, et al,. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase. Nat. Genet. 1995; 10: 111-13.
14. Klerk M, Verhoef P, Clarke R, et al,. MTHFR 677C ->T polymorphism and risk of coronary heart disease: A meta-analysis. JAMA 2002; 288: 2023-31. (Pubitemid 35204693)
15. Junker R, Kotthoff S, Vielhaber H, et al,. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc. Res. 2001; 51: 251-4. (Pubitemid 32695535)
16. Hobbs CA, James SJ, Parsian A, et al,. Congenital heart defects and genetic variants in the methylenetetrahydrofolate reductase. J. Med. Genet. 2006; 43: 162-6. (Pubitemid 43259631)
17. Zhu WL, Li Y, Yan L, et al,. Maternal and offspring MTHFR gene C677T polymorphism as predictors of congenital atrial septal defect and patent ductus arteriosus. Mol. Hum. Reprod. 2006; 12: 51-4.
18. Storti S, Vittorini S, Lascone MR, et al,. Association between 5,10 and methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin. Chem. Lab. Med. 2003; 41: 276-80. (Pubitemid 36432832)
19. Galdieri LC, Arrieta SR, Silva CM, et al,. Homocysteine concentrations and molecular analysis in patients with congenital heart defects. Arch. Med. Res. 2007; 38: 212-18. (Pubitemid 46080545)
20. van Beynum IM, den Heijer M, Blom HJ, et al,. The MTHFR 677C->T polymorphism and the risk of congenital heart defects: A literature review and meta-analysis. QJM 2007; 100: 743-53.
21. Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, et al,. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: A meta-analysis. Am. J. Med. Genet. 2007; 143A: 952-60. (Pubitemid 46700901)
22. Brandalize AP, Bandinelli E, dos Santos PA, et al,. Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. Am. J. Med. Genet. 2009; 149A: 2080-87.
23. Inspectorate of Public Health (The Netherlands). Prevention of Neural Tube Defects, Continued Advice Concerning Folic Acid Use in Relation to Neural Tube Defects. Inspectorate of Public Health, The Hague, 1993.
24. Coppede F, Marini G, Bargagna S, et al,. Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. Am. J. Med. Genet. 2006; 140A: 1083-91.
25. Bosco P, Guéant-Rodriguez RM, Anello G, et al,. Methionine synthase (MTR) 2756 (A-G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. Am. J. Med. Genet. 2003; 121A: 219-24. (Pubitemid 37107754)
26. Fillon-Emery N, Chango A, Mircher C, et al,. Homocysteine concentrations in adults with trisomy 21: Effect of B vitamins and genetic polymorphisms. Am. J. Clin. Nutr. 2004; 80: 1551-7. (Pubitemid 41103852)
27. Biselli JM, Goloni-Bertollo EM, Haddad R, et al,. The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome. Braz. J. Med. Biol. Res. 2008; 41: 34-40. (Pubitemid 351425867)
28. Zintzaras E,. Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: A meta-analysis. J. Hum. Genet. 2007; 52: 943-53. (Pubitemid 350112491)
29. Meijer WM, Werler MM, Louik C, et al,. Can folic acid protect against congenital heart defects in Down syndrome? Birth. Defects. Res. (Part A) 2006; 76: 714-17. (Pubitemid 44655986)
30. Zetterberg H, Regland B, Palmer M, et al,. Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur. J. Hum. Genet. 2002; 10: 113-18. (Pubitemid 34414045)
31. Callejón G, Mayor-Olea A, Jimenez AJ, et al,. Genotypes of the C677T and A1298C polymorphisms of the MTHFR gene as a cause of human spontaneous embryo loss. Hum. Reprod. 2007; 22: 3249-54. (Pubitemid 351696795)
32. Savva GM, Morris JK, Mutton DE, et al,. Maternal age-specific fetal loss rates in Down syndrome pregnancies. Prenat. Diagn. 2006; 26: 499-504. (Pubitemid 43989182)
33. Gerlis LM,. Cardiac malformations in spontaneous abortions. Int. J. Cardiol. 1985; 7: 29-43. (Pubitemid 15185343)
34. Hoffman JI,. Incidence of congenital heart disease. II. Prenatal Incidence. Pediatr. Cardiol. 1995; 16: 155-65.
35. Tomek V, Marek J, Jičínská H, Škovrá neki J,. Fetal cardiology in the Czech Republic: Current management of prenatally diagnosed congenital heart diseases and arrhythmias. Physiol. Res. 2009; 58: S159-66.