Abstract
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), NO2 (ABCC2, SLC01B1), PM10 (ABCC2, CYP1A1, CYP2B6, CYP2C19, CYP2D6, NAT2, SLC01B1, SLC01B3), PM2.5 (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.
Highlights
Spina bifida is a human structural birth defect characterized by incomplete closure of the embryonic neural tube and is the more frequently observed phenotype among its broader group known as neural tube defects
It is thought that most structural birth defects are caused by a complex combination of genetic and environmental factors that interact to interfere with morphogenetic processes; few studies have examined the interaction of genetic and environmental factors
The current study examines the interaction between gene variants in biotransformation enzyme pathways, enzyme pathways known to mediate detoxification of xenobiotic exposures, and ambient air pollution exposures and risk of spina bifida risk in a populationbased case-control study the San Joaquin Valley of California
Summary
Spina bifida is a human structural birth defect characterized by incomplete closure of the embryonic neural tube and is the more frequently observed phenotype among its broader group known as neural tube defects. Other environmental risk factors have been hypothesized to contribute to neural tube defect risk; several studies have examined the role of air pollution [Girguis and others 2016; Lupo and others 2011; Padula and others 2013]. 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 on spina bifida with most focused on folate transport or metabolism
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