Gene-Environment Interactions and the Etiology of Birth Defects

Curr Top Dev Biol. 2016;116:569-80. doi: 10.1016/bs.ctdb.2015.12.010. Epub 2016 Feb 1.


It is thought that most structural birth defects are caused by a complex combination of genetic and environmental factors that interact to interfere with morphogenetic processes. It is important not only to identify individual genetic and environmental risk factors for particular defects but also to identify which environmental factors interact specifically with which genetic variants that predispose to the same defect. Genomic and epidemiological studies are critical to this end. Development and analysis of model systems will also be essential for this goal, as well as for understanding the mechanisms that underlie specific gene-environment interactions.

Keywords: Birth defect; Cleft lip and palate; Congenital heart defects; Fetal alcohol; Hedgehog; Holoprosencephaly; Neural tube defects; Notch; Wnt.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Congenital Abnormalities / etiology*
  • Disease Susceptibility / etiology*
  • Gene-Environment Interaction*
  • Genetic Variation*
  • Humans
  • Risk Factors