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Variants of Folate Metabolism Genes and the Risk of Conotruncal Cardiac Defects
Author(s) -
Elizabeth Goldmuntz,
Stacy Woyciechowski,
Daniel Renstrom,
Philip J. Lupo,
Laura E. Mitchell
Publication year - 2008
Publication title -
circulation cardiovascular genetics
Language(s) - English
Resource type - Journals
eISSN - 1942-325X
pISSN - 1942-3268
DOI - 10.1161/circgenetics.108.796342
Subject(s) - neural tube , methylenetetrahydrofolate reductase , phenotype , biology , gene , genetics , genotype , cohort , heart disease , medicine , physiology , embryo
Although congenital heart defects (CHD) are the most common and serious group of birth defects, relatively little is known about the causes of these conditions and there are no established prevention strategies. There is evidence suggesting that the risk of CHD in general, and conotruncal and ventricular septal defects in particular, may be related to maternal folate status as well as genetic variants in folate-related genes. However, efforts to establish the relationships between these factors and CHD risk have been hampered by a number of factors including small study sample sizes and phenotypic heterogeneity.

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