Get access

Gastroschisis: A gene–environment model involving the VEGF–NOS3 pathway


  • How to cite this article: Lammer EJ, Iovannisci DM, Tom L, Schultz K, Shaw GM. 2008. Gastroschisis: A gene–environment model involving the VEGF–NOS3 pathway. Am J Med Genet Part C Semin Med Genet 148C:213–218.


Gastroschisis is a severe major malformation in which an infant is delivered with a portion of intestines and possible other abdominal organs extruding through a defect in the abdominal wall, usually to the right of the umbilical cord. Etiologies of gastroschisis are largely unknown, and even its pathogenesis is poorly understood. Several recent epidemiological studies have identified interactions between maternal smoking during pregnancy, genetic variants of endothelial nitric oxide synthase, and risk for gastroschisis. We present a brief review of the endothelial nitric oxide synthase pathway and its relationship to vasculogenesis, suggesting that disruption of this pathway by environmental exposures or by genetic variation may represent one pathogenetic model for gastroschisis. © 2008 Wiley-Liss, Inc.

Get access to the full text of this article