Article Text

PDF
307 GENETIC VARIANTS AND GASTROSCHISIS.
  1. A. Muiru1,
  2. D. M. Iovannisci1,
  3. G. M. Shaw1,
  4. E. J. Lammer1
  1. 1Children's Hospital Oakland Research Institute, Oakland, CA.

Abstract

Gastroschisis is a severe birth defect whose prevalence has been increasing in many countries for the last decade. It is a malformation in which infants are born with a defect in the abdominal wall, usually to the right of the umbilical cord. Its etiology is unknown, but one prevailing pathogenetic hypothesis is that it results from a vascular accident at the time of involution of the right umbilical vein or of the development of the superior mesenteric artery. In a previous small case-control study of gastroschisis (n = 57) and 506 controls, we found increased risks for homozygous variants of NPPA (OR = 7.5; 95% CI = 1.7-33) and ADD1 (OR = 4.9; 95% CI = 1.9-13). SNPs of three genes showed interactions with maternal smoking, NOS3, OR = 5.2 (95% CI = 2.4-11); ICAM1, OR = 5.2; (95% CI = 2.1-12); NPPA, OR = 6.4 (95% CI = 2.8-14). We have subsequently genotyped an additional 120 gastroschisis cases for the same panel of polymorphisms of 37 genes. The similar results provide additional support for the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.

Statistics from Altmetric.com

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.