MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers

International Journal of Genetics and Molecular Biology

Volumn 2, Issue 3, 2010, Pages 43-47

  García Fragoso, Lourdes ^a   García García, Inés ^a   Leavitt, Gloria ^a   Renta, Jessicca ^a   Ayala, A Miguel ^a   Cadilla, L Carmen ^a  

^a UNIVERSITY OF PUERTO RICO SCHOOL OF MEDICINE   (Puerto Rico)

Author keywords

Congenital heart disease; Folic acid; MTHFR polymorphisms

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ALANINE; CYSTEINE; FOLIC ACID; THREONINE; THYMIDINE;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; FOLATE METABOLISM; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MUTATIONAL ANALYSIS; NEWBORN; PUERTO RICO;

EID: 77953415047     PISSN: None     EISSN: 20069863     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. American Academy of Pediatrics (2007). Noninherited risk factors and congenital cardiovascular defects: current knowledge. Pediatrics. 120(2): 445-446.
2. Ayala MA (1999). Methylenetetrahydrofolate reductase -MTHFR- gene mutations in the Puerto Rican population [Doctoral thesis]. San Juan, PR: University of Puerto Rico, Medical Sciences Campus.
3. Bayley LB, Berry RJ (2005). Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage. Am. J. Clin. Nutr. 81: 1213-1217.
4. Botto LD, Khoury MJ, Mulinare J, Erickson JD (1996). Periconceptional Multivitamin Use and the Occurrence of Conotruncal Heart Defects: Results from a Population-based, Case-control Study. Pediatrics. 98(5): 911-7.
5. Botto LD, Mulinare J, Erickson JD (2000). Occurrence of Congenital Heart Defects in Relation to Maternal Multivitamin Use. Am. J. Epidemiol. 151(9): 878-84.
6. Botto LD, Yang Q (2000). 5,10-methylenetetrahydrofolate reductase gene variants and congential anomalies: A HuGE review. Am. J. Epidemiol. 151(9): 862-877.
7. Frosst P, Blom H, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJH, 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. Nat. Genet. 10: 111-113.
8. Galdieri LC, Arrieta SR, Silva CM, Pedra CA, D'Almeida V (2007). Homocysteine concentrations and molecular analysis in patients with congenital heart defects. Arch. Med. Res. 38(2): 212-218.
9. Hall J, Solehdin F (1998). Folic acid for the prevention of congenital anomalies. Eur. J. Pediatr. 157: 445-450.
10. Hernández-Diaz S, 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.
11. Hobbs CA, James SJ, Parsian A, Krakowiak PA, Jernigan S, 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.
12. Hollingshead AB (1975). Four factors index of social status. Working paper. Department of Sociology, Yale University, New Haven, CT.
13. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch HG, Kassenböhmer R, Heineking B, Nowak-Göttl U (2001). Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc. Res. 51(2): 251-4.
14. Li D, Pickell L, Liu Y, Wu Q, Cohn JS, Rozen R (2005). Maternal methylenetetrahydrofolate reductase deficiency and low dietary folate lead to adverse reproductive outcomes and congenital heart defects in mice. Am. J. Clin. Nutr. 82: 182-195.
15. Lonescu-lttu R, Marelli AJ, Mackie AS, Pilote L (2009). Prevalence of severe congenital heart disease after folic acid fortification of grain products: time trend analysis in Quebec. BMJ. 338: b1673.
16. Maschhoff K (2004). Elucidating the genetic cause of congenital heart defects. NeoReviews 5(7): 283-289.
17. 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. Clin. Mol.Teratol. 70(10): 825-30.
18. PR Health Department (2009). Puerto Rico birth defects surveillance system. Annual report.
19. San Juan, Puerto Rico.Santiago-Borrero PJ, Rodríguez Y, Renta J, Izquierdo N, del Fierro L (2006). Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky-Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico. J. Invest. Dermatol. 126(1): 85-90.
20. Shaw GM, O'Malley CD, Wasserman CR, Tolarova MM, 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(4): 536-45.
21. Shaw GM, Lu W, Zhu H, Yang W, Briggs FB, Carmichael SL, Barcellos LF, Lammer EJ, Finnell RH (2009). 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. BMC Med. Genet. 10:49.
22. Van Beynum IM, Kapusta L, den Heijer M, Vermeulen SH, Kouwenberg M, Daniëls O, Blom HJ (2006). Maternal MTHFR 677C>T is a risk factor for congenital Herat defects: effect modification by periconceptional folate supplementation. Eur. Heart J. 27(8): 981-987.
23. Van der Put NM, Eskes TK, Blom HJ (1997). Is the Common 677C-T Mutation in the Methylenetetrahydrofolate Reductase Gene a Risk Factor for Neural Tube Defects? A Meta-analysis. Q. J. Med. 90: 111-115.
24. Van der Put NMJ, Gabreels F, Stevens EMB, Smeitink JAM, Trijbels FJM, Eskes TKAB, van den Heuvel LP, Blom HJ (1998). A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects? Am. J. Hum. Genet. 62: 1044-1051.
25. Verkleij-Hagoort A, Bliek J, Sayed-Tabatabaei F, Ursem N, Steegers E, Steegers-Theunissen R (2007). Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. Am. J. Med. Genet. 143(9): 952-60.
26. Whitehead AS, Gallagher P, Mills JL, Kirke PN, Burke H, Molloy AM, Weir DG, Shields DC, Scott JM (1995). Genetic Defect in 5, 10-Methylenetetrahydrofolate Reductase in Neural Tube Defects Q. J. Med. 88: 763-766