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Importance of gene–environment interactions in the etiology of selected birth defects

Importance of gene–environment interactions in the etiology of selected birth defects Zhu H, Kartiko S, Finnell RH. Importance of gene–environment interactions in the etiology of selected birth defects.Clin Genet 2009: 75: 409–423. © Blackwell Munksgaard, 2009It is generally understood that both genetic and environmental factors contribute to the highly complex etiology of structural birth defects, including neural tube defects, oral clefts and congenital heart defects, by disrupting highly regulated embryonic developmental processes. The intrauterine environment of the developing embryo/fetus is determined by maternal factors such as health/disease status, lifestyle, medication, exposure to environmental teratogens, as well as the maternal genotype. Certain genetic characteristics of the embryo/fetus also predispose it to developmental abnormalities. Epidemiologic and animal studies conducted over the last few decades have suggested that the interplay between genes and environmental factors underlies the etiological heterogeneity of these defects. It is now widely believed that the study of gene–environment interactions will lead to better understanding of the biological mechanisms and pathological processes that contribute to the development of complex birth defects. It is only through such an understanding that more efficient measures will be developed to prevent these severe, costly and often deadly defects. In this review, we attempt to summarize the complex clinical and experimental literature on current hypotheses of interactions between several select environmental factors and those genetic pathways in which they are most likely to have significant modifying effects. These include maternal folate nutritional status, maternal diabetes/obesity-related conditions, and maternal exposure to selected medications and environmental contaminants. Our goal is to highlight the potential gene–environment interactions affecting early embryogenesis that deserve comprehensive study. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Importance of gene–environment interactions in the etiology of selected birth defects

Zhu,; Kartiko,; Finnell,
Clinical Genetics , Volume 75 (5) – May 1, 2009
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References (230)

Publisher
Wiley
Copyright
Journal compilation © 2009 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.2009.01174.x
pmid
19459879
Publisher site
See Article on Publisher Site

Abstract

Zhu H, Kartiko S, Finnell RH. Importance of gene–environment interactions in the etiology of selected birth defects.Clin Genet 2009: 75: 409–423. © Blackwell Munksgaard, 2009It is generally understood that both genetic and environmental factors contribute to the highly complex etiology of structural birth defects, including neural tube defects, oral clefts and congenital heart defects, by disrupting highly regulated embryonic developmental processes. The intrauterine environment of the developing embryo/fetus is determined by maternal factors such as health/disease status, lifestyle, medication, exposure to environmental teratogens, as well as the maternal genotype. Certain genetic characteristics of the embryo/fetus also predispose it to developmental abnormalities. Epidemiologic and animal studies conducted over the last few decades have suggested that the interplay between genes and environmental factors underlies the etiological heterogeneity of these defects. It is now widely believed that the study of gene–environment interactions will lead to better understanding of the biological mechanisms and pathological processes that contribute to the development of complex birth defects. It is only through such an understanding that more efficient measures will be developed to prevent these severe, costly and often deadly defects. In this review, we attempt to summarize the complex clinical and experimental literature on current hypotheses of interactions between several select environmental factors and those genetic pathways in which they are most likely to have significant modifying effects. These include maternal folate nutritional status, maternal diabetes/obesity-related conditions, and maternal exposure to selected medications and environmental contaminants. Our goal is to highlight the potential gene–environment interactions affecting early embryogenesis that deserve comprehensive study.

Journal

Clinical Genetics – Wiley

Published: May 1, 2009

Keywords: birth defects; folic acid; gene-environment interaction; neural tube defects; oral clefts; risk factors

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