Maternal and Paternal Environmental Risk Factors, Metabolizing GSTM1 and GSTT1 Polymorphisms, and Congenital Heart Disease

Cresci, Monica; Foffa, Ilenia; Ait-Alì, Lamia; Pulignani, Silvia; Gianicolo, Emilio Antonio Luca; Botto, Nicoletta; Picaño, Eugenio; Andreassi, Maria Grazia

doi:10.1016/j.amjcard.2011.07.022

Cited by 64 publications

(61 citation statements)

References 25 publications

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“…Glutathione S-transferase (GST) GSTM1 and GSTT1 are fundamental enzymes in the detoxification system. In a recent study, we showed that specific and common genetic variants in GSTM1 and GSTT1 genes can modify a person's risk of toxicant exposure-induced disease [103]. In this study, we clearly showed that parental exposure to toxicants (such as paternal smoking) increased the risk of having children with CHDs, proving evidence of the influence of environmental factors for congenital malformations.…”

Section: Gene-environmental Interactionssupporting

confidence: 54%

Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

Vecoli¹,

Pulignani²,

Foffa³

et al. 2014

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Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.

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Section: Gene-environmental Interactionssupporting

confidence: 54%

Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

Vecoli¹,

Pulignani²,

Foffa³

et al. 2014

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“…Several enzymes (and their gene families) are involved in this process including glutathione transferases. Genetic polymorphisms of glutathione transferase enzymes, which provide a critical defense against toxins, have been shown to be associated with CHD formation [Cresci et al, 2011]. These investigations with such gene–environment interaction effects demonstrate the importance of additional investigations of the associations between structural heart defects, maternal smoking, and genetic variants that may modify the effect of smoking on the developing fetal heart.…”

Section: Discussionmentioning

confidence: 99%

Analysis of selected maternal exposures and non‐syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005.

Patel

Burns

Botto

et al. 2012

American J of Med Genetics Pt A

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Although the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non-genetic risk factors have not been consistently identified. Using data (1997–2005) from the National Birth Defects Prevention Study, an ongoing multisite population-based case–control study, the association between selected non-genetic factors and non-syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non-smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1–2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0–2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs.

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“…M. Lee et al, 2009; Pang et al, 2003; Vine, 1996) suggesting smoke-induced genetic or epigenetic changes occur in sperm that are transmitted to offspring. Additionally, children of men who smoke are at increased risk for childhood cancers, asthma (Svanes et al, 2016) and birth defects including cleft palate, urethral stenosis, hydrocephalus (Savitz et al, 1991), congenital heart disease, cardiovascular anomalies (Cresci et al, 2011) anorectal malformations (Zwink et al, 2011), spina bifida (Zhang et al, 1992), and reduced kidney volume (Kooijman et al, 2015). …”

Section: Introductionmentioning

confidence: 99%

Cigarette smoking significantly alters sperm DNA methylation patterns

et al. 2017

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Numerous health consequences of tobacco smoke exposure have been characterized, and smoking’s effects on traditional measures of male fertility are well described. However, a growing body of data indicates that pre-conception paternal smoking also confers increased risk for a number of morbidities on offspring. The mechanism for this increased risk has not been elucidated, but it is likely mediated, at least in part, through epigenetic modifications transmitted through sperm. In this study, we investigated the impact of cigarette smoke exposure on sperm DNA methylation patterns in 78 men who smoke and 78 never-smokers using the Infinium HumanMethylation450 beadchip. We investigated two models of DNA methylation alterations: (1) consistently altered methylation at specific CpGs or within specific genomic regions and (2) stochastic DNA methylation alterations manifest as increased variability in genome-wide methylation patterns in men who smoke. We identified 141 significantly differentially methylated CpGs associated with smoking. In addition, we identified a trend toward increased variance in methylation patterns genome-wide in sperm DNA from men who smoke compared with never-smokers. These findings of widespread DNA methylation alterations are consistent with the broad range of offspring heath disparities associated with pre-conception paternal smoke exposure and warrant further investigation to identify the specific mechanism by which sperm DNA methylation perturbation confers risk to offspring health and whether these changes can be transmitted to offspring and transgenerationally.

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Maternal and Paternal Environmental Risk Factors, Metabolizing GSTM1 and GSTT1 Polymorphisms, and Congenital Heart Disease

Cited by 64 publications

References 25 publications

Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

Analysis of selected maternal exposures and non‐syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005.

Cigarette smoking significantly alters sperm DNA methylation patterns

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