RGD Reference Report - Selected gene polymorphisms and their interaction with maternal smoking, as risk factors for gastroschisis. - Rat Genome Database

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

Authors: Torfs, CP  Christianson, RE  Iovannisci, DM  Shaw, GM  Lammer, EJ 
Citation: Torfs CP, etal., Birth Defects Res A Clin Mol Teratol. 2006 Oct;76(10):723-30.
RGD ID: 5148000
Pubmed: PMID:17051589   (View Abstract at PubMed)
DOI: DOI:10.1002/bdra.20310   (Journal Full-text)

BACKGROUND: Gastroschisis is a severe birth defect in which the infant is born with a portion of the intestines extruding through a small tear in the abdominal wall, usually to the right of the umbilical cord. Its etiology is unknown, but the prevailing 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. METHODS: In a case-control study of 57 cases of gastroschisis and 506 controls, we tested DNA for polymorphisms of 32 genes representing enzymes involved in angiogenesis, blood vessel integrity, inflammation, wound repair, and dermal or epidermal strength. RESULTS: In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as referent, the following gene polymorphisms were associated with an increased risk for a gastroschisis for heterozygotes: ICAM1 gly241arg (odds ratio [OR], 1.9; 95% confidence interval [CI], 1.1 -3.4); NOS3 glu298asp (OR, 1.9; 95% CI, 1.1-3.4); NPPA 2238T > C (OR, 1.9; 95% CI, 1.0-3.4); and ADD1 gly460trp (OR, 1.5; 95% CI, 0.8-2.8). Additionally, for the NPPA and ADD1 single-nucleotide polymorphisms (SNPs), the homozygote variants had a significantly higher risk than the heterozygotes (OR, 7.5; 95% CI, 1.7-33.5 and OR, 4.9; 95% CI, 1.9-12.9, respectively). Three SNPs showed a strong interaction with maternal smoking. The risk for smokers with 1 or 2 variant alleles compared to nonsmokers with the wild-type allele were: NOS3 (OR, 5.2; 95% CI, 2.4-11.4); ICAM1 (OR, 5.2; 95% CI, 2.1-12.7); and NPPA (OR, 6.4; 95% CI, 2.8-14.6). CONCLUSIONS: These results support the hypothesis of a vascular compromise as part of a multifactorial etiology of gastroschisis involving both genes and environmental factors.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
gastroschisis  IAGP 5148000DNA:SNP: :p.G460W (human)RGD 
gastroschisis  ISOADD1 (Homo sapiens)5148000; 5148000DNA:SNP: :p.G460W (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Add1  (adducin 1)

Genes (Mus musculus)
Add1  (adducin 1)

Genes (Homo sapiens)
ADD1  (adducin 1)


Additional Information