Gastroschisis: A gene–environment model involving the VEGF–NOS3 pathway

Lammer, Edward J.; Iovannisci, David M.; Tom, Lauren; Schultz, Kathy; Shaw, Gary M.

doi:10.1002/ajmg.c.30182

Cited by 42 publications

(37 citation statements)

References 51 publications

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“…Polymorphisms of genes NOS-3 and VEGF (Lammer et al, 2008) as well as a geneenvironment interaction with NOS-3 polymorphism and maternal smoking (Torfs et al, 2006) are associated with gastroschisis. It is concerting that as yet there is no definitive implication of a genetic or environmental factor to contribute to the rising prevalence of gastroschisis.…”

Section: Discussionmentioning

confidence: 99%

Rising Prevalence of Gastroschisis in Washington State

Chabra

Gleason

Seidel³

et al. 2011

Journal of Toxicology and Environmental Health, Part A

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The aim of this study was to assess gastroschisis prevalence in Washington (WA) State in relation to putative risk factors. Gastroschisis prevalence was calculated from the WA State birth cohort during 1987-2006 using an administrative database with birth certificate data linked with hospital discharge records and the ICD-9 procedure code 54.71, which specifies gastroschisis repair. Poisson regression analysis was used to evaluate time trends while adjusting for risk factors. Birth year was included as a linear term. Maternal age, smoking, race, residence in urban versus rural area, geographic region (eastern versus western Washington), paternal age, and infant gender were included as categorical factors. Prevalence ratios were adjusted for birth year and all of the preceding factors. Two hundred and eighty-two infants with gastroschisis were identified. In the adjusted analysis, the prevalence ratio for gastroschisis was 1.1 per year (95% CI 1.08-1.13), indicating an average 10% increase per birth year. Teen mothers were at a higher risk compared to mothers≥25 yr old (adjusted rate ratio [aRR] 8.02; 95% CI 5.30-12.13), as were teen fathers (aRR 2.35; 95% CI 1.48-3.74) compared to fathers≥25 years old. Maternal smoking was associated with a higher risk compared to those who were nonsmokers (aRR 1.58; 95% CI 1.19-2.09). Black mothers had a lower risk compared with white mothers. There was no association with geographic classification of mother's residence. Gastroschisis prevalence has increased in WA, particularly in teen mothers and in smokers. This is not explained by a rise in teenage pregnancies or maternal smoking. Further investigation of factors specific to teenage lifestyle is warranted.

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Section: Discussionmentioning

confidence: 99%

Rising Prevalence of Gastroschisis in Washington State

Chabra

Gleason

Seidel³

et al. 2011

Journal of Toxicology and Environmental Health, Part A

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“…This relationship is already well established. Early ages (up to 20 years) are associated with gastroschisis [18] and all the mothers that the child had this BD were aged up to 20 years old. At older ages the risk of numerical chromosomal abnormalities increases progressively [19] and this was a risk factor observed in this study too, in which most mothers of children with these abnormalities were 35 years or older.…”

Section: Discussionmentioning

confidence: 99%

Birth defects in newborns and stillborns: an example of the Brazilian reality

et al. 2011

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BackgroundThis study constitutes a clinical and genetic study of all newborn and stillborn infants with birth defects seen in a period of one year in a medical school hospital located in Brazil. The aims of this study were to estimate the incidence, causes and consequences of the defects.MethodsFor all infants we carried out physical assessment, photographic records, analysis of medical records and collection of additional information with the family, besides the karyotypic analysis or molecular tests in indicated cases.ResultThe incidence of birth defects was 2.8%. Among them, the etiology was identified in 73.6% (ci95%: 64.4-81.6%). Etiology involving the participation of genetic factors single or associated with environmental factors) was more frequent 94.5%, ci95%: 88.5-98.0%) than those caused exclusively by environmental factors (alcohol in and gestational diabetes mellitus). The conclusive or presumed diagnosis was possible in 85% of the cases. Among them, the isolated congenital heart disease (9.5%) and Down syndrome (9.5%) were the most common, followed by gastroschisis (8.4%), neural tube defects (7.4%) and clubfoot (5.3%). Maternal age, parental consanguinity, exposure to teratogenic agents and family susceptibility were some of the identified risk factors. The most common observed consequences were prolonged hospital stays and death.ConclusionsThe current incidence of birth defects among newborns and stillbirths of in our population is similar to those obtained by other studies performed in Brazil and in other underdeveloped countries. Birth defects are one of the major causes leading to lost years of potential life. The study of birth defects in underdeveloped countries should continue. The identification of incidence, risk factors and consequences are essential for planning preventive measures and effective treatments.

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“…This model suspects that an environmental factor hits a more or less genetically susceptible population. The results of a first investigation of such a gene-environment model involving the VEGF-NOS3 pathway already support this hypothesis [66].…”

Section: Discussionmentioning

confidence: 84%

“…However, a link between etiology and pathology is still missing. In addition to environmental, social, and lifestyle factors, a genetic component is discussed [65,66]. At first glance, familial cases of gastroschisis seem to be a good argument in favor of such a genetic cause.…”

Section: Discussionmentioning

confidence: 99%