Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk

Jenkins, Mary M.; Reefhuis, Jennita; Gallagher, Margaret; Mullé, Jennifer G.; Hoffmann, Thomas J.; Koontz, Deborah; Sturchio, Cynthia; Rasmussen, Sonja A.; Witte, John S.; Richter, Patricia; Honein, Margaret A.

doi:10.1002/ajmg.a.36478

Cited by 25 publications

(35 citation statements)

References 43 publications

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“…Gastroschisis requires surgical repair at birth and is associated with significant bowel related morbidity (e.g., intestinal atresia and short bowel syndrome) [Lepigeon et al, 2014]. Obese women [Khodr et al, 2013;Jenkins et al, 2014] and mothers of black race/ethnicity [Vu et al, 2008;Kirby et al, 2013] have repeatedly been shown to be at decreased risk of having fetuses with gastroschisis. Obese women [Khodr et al, 2013;Jenkins et al, 2014] and mothers of black race/ethnicity [Vu et al, 2008;Kirby et al, 2013] have repeatedly been shown to be at decreased risk of having fetuses with gastroschisis.…”

Section: Introductionmentioning

confidence: 99%

Maternal factors associated with the occurrence of gastroschisis

Baer

Chambers

Jones

et al. 2015

American J of Med Genetics Pt A

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We sought to identify age group specific maternal risk factors for gastroschisis. Maternal characteristics and prenatal factors were compared for 1,279 live born infants with gastroschisis and 3,069,678 without. Data were obtained using the California database containing linked hospital discharge, birth certificate and death records from 1 year prior to the birth to 1 year after the birth. Backwards-stepwise logistic regression models were used with maternal factors where initial inclusion was determined by a threshold of p < 0.10 on initial crude analyses. Due to the strong association of gastroschisis with young maternal age, models were stratified by age groups and odds ratios were calculated. These final models identified maternal infection as the only risk factor common to all age groups and a protective effect of obesity and gestational hypertension. In addition, age specific risk factors were identified. Although gestation at the time of infection was not available, a sexually transmitted disease complicating pregnancy was associated with increased risk in the less than 20 years of age grouping whereas viral infection was associated with increased risk only in the 20-24 and more than 24 years of age groupings. Urinary tract infection remained in the final logistic model for women less than 20 years. Short interpregnancy interval was not found to be a risk factor for any age group. Our findings support the need to explore maternal infection by type and gestational timing.

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Section: Introductionmentioning

confidence: 99%

Maternal factors associated with the occurrence of gastroschisis

Baer

Chambers

Jones

et al. 2015

American J of Med Genetics Pt A

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“…Additional studies have examined the interaction between smoking and gene variants for their combined risk of gastroschisis and cleft palate [Jenkins and others 2014; Torfs and others 2006; Wu and others 2012]. …”

Section: Discussionmentioning

confidence: 99%

“…The few studies that do exist examined the interaction with smoking [Jenkins and others 2014; Torfs and others 2006; Wu and others 2012] or nutrition [Enaw and others 2006; Wu and others 2010] and one with occupational chemical exposures [Shaw and others 2003]. Fewer such gene-environment interaction studies have been conducted specifically on spina bifida with most focused on folate transport or metabolism.…”

Section: Introductionmentioning

confidence: 99%

Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida

Padula

Yang

Schultz

et al. 2018

American J of Med Genetics Pt A

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Spina bifida is a birth defect characterized by incomplete closure of the embryonic neural tube. Genetic factors as well as environmental factors have been observed to influence risks for spina bifida. Few studies have investigated possible gene-environment interactions that could contribute to spina bifida risk. The aim of this study is to examine the interaction between gene variants in biotransformation enzyme pathways and ambient air pollution exposures and risk of spina bifida. We evaluated the role of air pollution exposure during pregnancy and gene variants of biotransformation enzymes from bloodspots and buccal cells in a California population-based case-control (86 cases of spina bifida and 208 non-malformed controls) study. We considered race/ethnicity and folic acid vitamin use as potential effect modifiers and adjusted for those factors and smoking. We observed gene-environment interactions between each of the five pollutants and several gene variants: NO (ABCC2), NO (ABCC2, SLC01B1), PM (ABCC2, CYP1A1, CYP2B6, CYP2C19, CYP2D6, NAT2, SLC01B1, SLC01B3), PM (CYP1A1 and CYP1A2). These analyses show positive interactions between air pollution exposure during early pregnancy and gene variants associated with metabolizing enzymes. These exploratory results suggest that some individuals based on their genetic background may be more susceptible to the adverse effects of pollution.

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“…One mother who provided samples for herself reported using an egg donor, and her data were removed from analyses of sample collectors. Selected exposures and birth defects were chosen based on their use in NBDPS gene-environment interaction studies, sample sizes, and previous reported associations (Cleves, Hobbs, Zhao, Krakowiak, & MacLeod, 2011; Correa et al, 2008; Hackshaw, Rodeck, & Boniface, 2011; Hobbs et al, 2014; Jenkins et al, 2014; Lupo et al, 2012; Tang, Cleves et al, 2015; Tang, Hobbs et al, 2015). We considered the associations between three exposures and six phenotypes to assess whether sample collection participation impacts the observed associations over a range of sample sizes.…”

Section: Methodsmentioning

confidence: 99%

Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene‐environment interactions

Jenkins

Reefhuis

Herring

et al. 2017

Genetic Epidemiology

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To better understand the impact that nonresponse for specimen collection has on the validity of estimates of association, we examined associations between self-reported maternal periconceptional smoking, folic acid use, or pregestational diabetes mellitus and six birth defects among families who did and did not submit buccal cell samples for DNA following a telephone interview as part of the National Birth Defects Prevention Study (NBDPS). Analyses included control families with live born infants who had no birth defects (N = 9,465), families of infants with anorectal atresia or stenosis (N = 873), limb reduction defects (N = 1,037), gastroschisis (N = 1,090), neural tube defects (N = 1,764), orofacial clefts (N = 3,836), or septal heart defects (N = 4,157). Estimated dates of delivery were between 1997 and 2009. For each exposure and birth defect, odds ratios and 95% confidence intervals were calculated using logistic regression stratified by race-ethnicity and sample collection status. Tests for interaction were applied to identify potential differences between estimated measures of association based on sample collection status. Significant differences in estimated measures of association were observed in only four of 48 analyses with sufficient sample sizes. Despite lower than desired participation rates in buccal cell sample collection, this validation provides some reassurance that the estimates obtained for sample collectors and noncollectors are comparable. These findings support the validity of observed associations in gene-environment interaction studies for the selected exposures and birth defects among NBDPS participants who submitted DNA samples.

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Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk

Cited by 25 publications

References 43 publications

Maternal factors associated with the occurrence of gastroschisis

Maternal factors associated with the occurrence of gastroschisis

Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida

Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene‐environment interactions

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