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Gastroschisis: A gene–environment model involving the VEGF–NOS3 pathway
Author(s) -
Lammer Edward J.,
Iovannisci David M.,
Tom Lauren,
Schultz Kathy,
Shaw Gary M.
Publication year - 2008
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30182
Subject(s) - gastroschisis , pathogenesis , nitric oxide , abdominal wall , etiology , umbilical cord , medicine , bioinformatics , pregnancy , fetus , biology , genetics , pathology , surgery , immunology
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.