Fetal and maternal <i>CYP2E1</i> genotypes and the risk of nonsyndromic oral clefts

Perret, Claire; Bahuau, Michel; Nelva, Agnès; Herman, Christine; Francannet, Christine; Robert-Gnansia, Élisabeth; Cordier, Sylvaine

doi:10.1002/ajmg.a.31779

Cited by 9 publications

(11 citation statements)

References 20 publications

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“…Studies in Dutch, Danish, and Iowan populations, like our findings, show no evidence of interaction between CYP1A1 polymorphisms and maternal smoking status [van Rooij et al, 2001;Shi et al, 2007]. Our data indicate that the effects of the CYP2E1 gene vary with maternal smoking or alcohol consumption [Chevrier et al, 2007b] and thus suggest this gene may play a ubiquitous role in oral cleft susceptibility. One study reports a significant CYP2E1-smoking interaction in Danish families when the mother carries the variant allele [Shi et al, 2007].…”

Section: Discussionsupporting

confidence: 71%

“…We have previously discussed the apparently protective role of the CYP2E1 variant on oral cleft outcome [Chevrier et al, 2007b]. To our knowledge, only three studies have investigated the role of CYP1A1 polymorphisms in oral cleft etiology [van Rooij et al, 2001;Kayano et al, 2004;Shi et al, 2007]: a protective effect by a variant of the CYP1A1 gene (SNP T3801C) has been observed in both Danish and Iowan populations [Shi et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

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Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

Bahuau

Perret

Iovannisci³

et al. 2008

American J of Med Genetics Pt A

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Maternal tobacco consumption is considered as a risk factor for nonsyndromic oral clefts. However, this risk is moderate and may be modulated by genetic susceptibilities, including variants of the TGFA, TGFB3 and MSX1 developmental genes and polymorphisms of genes of the CYP (1A1, 2E1) and GST (M1, T1) families involved in metabolic pathways of tobacco smoke compounds. This French case-control study (1998-2001; 240 nonsyndromic cases, 236 controls) included a case-parent design (175 triad-families) that made it possible to distinguish the direct effect of the child's genotype and maternally mediated effects. Maternal smoking during the first trimester of pregnancy was not associated with the oral cleft risk in this population, but we observed statistically significant increased risks associated with maternal exposure to environmental tobacco smoke (ETS). No variant of any of the three developmental genes was significantly associated with oral cleft. The fetal CYP1A1*2C variant allele was associated with a statistically significant decreased risk, compared with the homozygous wild-type: relative risk = 0.48, 95% confidence interval: 0.2, 1.0. Suggestive reduced risks were also observed for the maternal CYP1A1*2C allele and the fetal CYP2E1*5 allele. The GSTM1 and GSTT1 deletions appeared to play no role. Our findings suggest some interactions, with the strongest between ETS and CYP1A1 or MSX1 and between maternal smoking and CYP2E1. We did not confirm the maternal smoking-infant GSTT1 null interaction previously reported by other investigators.

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Section: Discussionsupporting

confidence: 71%

Section: Discussionmentioning

confidence: 99%

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

Bahuau

Perret

Iovannisci³

et al. 2008

American J of Med Genetics Pt A

Self Cite

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“…[113] CYP2E1 genotypes of mother and child showed reduced risks of nonsyndromic oral cleft in children carrying the CYP2E c1/c2 mutated allele. [114] FOLIC ACID…”

Section: Alcoholmentioning

confidence: 99%

Current concepts in genetics of nonsyndromic clefts

Murthy

Bhaskar

2009

Indian J Plast Surg

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Nonsyndromic cleft lip and palate is a complex genetic disorder with variable phenotype, largely attributed to the interactions of the environment and multiple genes, each potentially having certain effects. Numerous genes have been reported in studies demonstrating associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factors, growth factors, cell signalling and detoxification metabolisms. Although the studies reporting these observations are compelling, most of them lack statistical power. This review compiles the evidence that supports linkage and associations to the various genetic loci and candidate genes. Whereas significant progress has been made in the field of cleft lip and palate genetics in the past decade, the role of the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype remain to be determined.

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“…Fetal polymorphism of another CYP gene, CYP2E1 , may also have a protective effect against OFCs as observed in a French population (Chevrier et al, 2007; Chevrier et al, 2008). CYP2E1 metabolizes organic solvents such as ethanol and benzene (Ingelman‐Sundberg, 2004), as well as other toxicants including nitrosamines and tannins (Lieber, 1997).…”

Section: Biotransformation and Transport In Ofcsmentioning

confidence: 88%

Environmental mechanisms of orofacial clefts

Garland

Reynolds

Zhou

2020

Birth Defects Research

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Orofacial clefts (OFCs) are among the most common birth defects and impart a significant burden on afflicted individuals and their families. It is increasingly understood that many nonsyndromic OFCs are a consequence of extrinsic factors, genetic susceptibilities, and interactions of the two. Therefore, understanding the environmental mechanisms of OFCs is important in the prevention of future cases. This review examines the molecular mechanisms associated with environmental factors that either protect against or increase the risk of OFCs. We focus on essential metabolic pathways, environmental signaling mechanisms, detoxification pathways, behavioral risk factors, and biological hazards that may disrupt orofacial development.

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Fetal and maternal CYP2E1 genotypes and the risk of nonsyndromic oral clefts

Cited by 9 publications

References 20 publications

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

Genetic susceptibilities in the association between maternal exposure to tobacco smoke and the risk of nonsyndromic oral cleft

Current concepts in genetics of nonsyndromic clefts

Environmental mechanisms of orofacial clefts

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