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Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis

Claudine P Torfs1, Roberta E Christianson, David M Iovannisci

  • 1Public Health Institute, Oakland, California, USA. ctorfs@aul.org

Birth Defects Research. Part A, Clinical and Molecular Teratology
|October 20, 2006
PubMed

Insights

Genetic variations in genes like ICAM1, NOS3, NPPA, and ADD1 are linked to increased gastroschisis risk. Maternal smoking further elevates this risk, suggesting a multifactorial etiology involving genetic and environmental factors.

Area of Science:

  • Genetics
  • Developmental Biology
  • Epidemiology

Background:

  • Gastroschisis is a severe congenital defect involving intestinal extrusion through an abdominal wall defect.
  • Its exact cause is unknown, but vascular compromise is a leading hypothesis.

Purpose of the Study:

  • To investigate the association between gene polymorphisms and gastroschisis risk.
  • To explore potential gene-environment interactions, particularly with maternal smoking.

Main Methods:

  • A case-control study involving 57 gastroschisis cases and 506 controls.
  • DNA analysis of polymorphisms in 32 genes related to vascular function, inflammation, and tissue integrity.

Main Results:

  • Specific polymorphisms in ICAM1, NOS3, NPPA, and ADD1 were associated with increased gastroschisis risk.
  • Homozygous variants in NPPA and ADD1 showed significantly higher risks.
  • Interactions between certain gene polymorphisms (NOS3, ICAM1, NPPA) and maternal smoking substantially increased risk.

Conclusions:

  • Findings support a multifactorial etiology for gastroschisis, involving both genetic predispositions and environmental influences.
  • Vascular compromise is implicated as a key mechanism in gastroschisis development.
Abstract

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