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

Imagen de Carmen Lydia Cadilla
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TítuloMTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.
Publication TypeJournal Article
Year of Publication2010
AutoresGarcía-Fragoso, L, García-García, I, Leavitt, G, Renta, J, Ayala, MA, Cadilla, C
JournalInt J Genet Mol Biol
Volume2
Issue3
Pagination43-47
Date Published2010 Mar 1
ISSN2006-9863
Abstract

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.

Alternate JournalInt J Genet Mol Biol
PubMed ID20657745
PubMed Central IDPMC2908276
Grant ListG12 RR003051 / RR / NCRR NIH HHS / United States
G12 RR003051-120032 / RR / NCRR NIH HHS / United States
P20 RR011126-049001 / RR / NCRR NIH HHS / United States