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.
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