International Journal of
Genetics and Molecular Biology

  • Abbreviation: Int. J. Genet. Mol. Biol.
  • Language: English
  • ISSN: 2006-9863
  • DOI: 10.5897/IJGMB
  • Start Year: 2009
  • Published Articles: 131

Full Length Research Paper

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

Lourdes García-Fragoso1*, Inés García-García1, Gloria Leavitt1, Jessicca Renta2, A.Miguel Ayala2 and L. Carmen Cadilla2
  1Department of Pediatrics, Neonatology Section, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico. 2Department of Biochemistry, School of Medicine, University of Puerto Rico, San Juan, Puerto Rico.
Email: [email protected]

  •  Accepted: 21 January 2010
  •  Published: 30 March 2010



Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed.  The study group included 27 mothers, 27 children with CHD and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD.  Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD.


Key words: Congenital heart disease, folic acid, MTHFR polymorphisms.