Study of MTHFR C677T polymorphism in neonates with isolated congenital heart disease in a Colombian population
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The research of the role of gene polymorphisms in the metabolic pathways of homocysteine-methionine and folic acid in congenital malformations is very important because its effect could be modulated.
Objetive: The aim of this study was to determine whether the C677T polymorphism in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR) was associated with the development of isolated congenital heart disease.
Methodology: We compared the allele and genotype frequencies of this polymorphism in 34 infants with isolated congenital heart defects and 102 healthy individuals. Genotyping was performed by Polymerase Chain Reaction (PCR) and with the technique Restriction Fragment Length Polymorphism (RFLP).
Results: There were no statistically significant differences in allele or genotype frequencies between case and control groups. Although our results show no statistically significant differences between the groups assessed there was a statistical trend for a possible protective effect of TT genotype against the development of congenital heart disease.
cardiopatía congénita, polimorfismo genético, metilentetrahidrofolato reductasa, ácido fólico, homocisteína, congenital heart defects, genetic polymorphism, methylenetetrahydrofolate reductasa, folic acid, homocysteine,
2. van Beynum I M, Kapusta L, Den Hei -jer M, Vermeulen S.H.H.M, Kouwenberg M, Daniëls O, et al. Maternal MTHFR 677C>T is a risk factor for congenital heart defects: Effect modification by periconceptional folate supplementation. Eur Heart J. 2006;27:981-7.
3. Junker R, Kotthoff S, Vielhaber H, Halimeh S, Kosch A, Koch HG, et al. Infant methylenetetrahydrofolate reductase 677TT genotype is a risk factor for congenital heart disease. Cardiovasc Res. 2001;51:251-4.
4. Sánchez-Urbina R, Galaviz-Hernández C, Sierra-Ramírez A, Morán-Barroso VF, García-Cavazos R. Trascendencia de los factores ambientales y genéticos en cardiopatías congénitas: el caso de la
enzima MTHFR. Perinatol Reprod Hum. 2006;20:39-47.
5. Lupo P, Goldmuntz F, Mitchell L. Genegene interactions in the folate metabolic pathway and the risk of conotruncal heart defects. J Biomed Biotechnol. 2010; artículo ID 630940. doi:10.1155/2010/630940.
6. Huhta JC, Hernández-Robles JA. Homocysteine, folate, and congenital heart defects. Fetal Pediatr Pathol. 2005;24:71-9.
7. Hobbs CA, James SJ, Parsian A, Krakowian PA, Jernigan S, Greenhaw JJ, et al. Congenital heart defects and genetic variants
in the methylenetetrahydroflate reductase gene. J Med Genet. 2006;43:162-6.
8. Hobbs CA, James SJ, Jernigan S, Melnyk S, Yunxia L, Malik S, et al. Congenital heart defects, maternal homocysteine, smoking, and the 677 C>T polymorphism in the methylenetetrahydrofolate reductase
gene: Evaluating gene-environment interactions. Am J Obstet Gynecol. 2006;194:218-24.
9. Botto LD, Mulinare J, Erickson JD. Do multivitamin or folic acid supplements reduce the risk for congenital heart defects? Evidence and gaps. Am J Med Genet. 2003;121A:95-101.
10. Zhu W, Li Y, Yan L, Dao J, Li S. 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.
11. Frosst P, Blom HJ, Milos l. A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate
reductase. Nat Genet. 1995;10:111-3.
12. Bermúdez M, Briceño I, Gil F, Bernal J. Homocisteína y polimorfismos de cistationina b sintasa y metilentetrahidrofolato reductasa en población sana de Colombia. Colomb Med. 2006;37:46-52.
13. Pereira AC, Xavier-Neto J, Mesquita SM, Mota GF, Lopes AA, Krieger JE. Lack of evidence of association between MTHFR C677T polymorphism and congenital heart disease in a TDT study design. Int J Cardiol. 2005;105:15-8.
14. García-Fragoso L, García-García I, Leavitt G, Renta J, Ayala MA, Cadilla LC. MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers. International Journal of Genetics and Molecular Biology. 2010;2:43-7.