Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects

Shi, Min; Wehby, George L.; Murray, Jeffrey C.

doi:10.1002/bdrc.20117

Cited by 152 publications

(133 citation statements)

References 119 publications

(114 reference statements)

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“…However, susceptibility appears to be linked to particular genotypes for metabolizing systems, developmentally important genes, and perhaps others. This topic is reviewed by Shi et al (2008).…”

Section: Structural Malformationsmentioning

confidence: 99%

Tobacco and pregnancy: Overview of exposures and effects

Rogers

2008

Birth Defects Research Pt C

171

104

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This opening article will review the epidemiology of the effects of cigarette smoking and other forms of tobacco exposure on human development. Sources of exposure described include cigarettes and other forms of smoked tobacco, secondhand (environmental) tobacco smoke, several forms of smokeless tobacco, and nicotine from nicotine replacement therapy. Exposure is immense and worldwide, most of it due to smoking, but in some parts of the world and in some populations, smoking is exceeded by smokeless tobacco use. Nicotine and carbon monoxide exposure are of large concern, but cigarette smoke contains over 4000 chemical constituents and additives including known carcinogens, toxic heavy metals, and many chemicals untested for developmental toxicity. The impact of tobacco on human development will be reviewed. Fertility, conception, survival of the conceptus, most phases and aspects of development studied to date, as well as postnatal survival and health are adversely impacted by maternal tobacco use or exposure. Effects in surviving offspring are probably life-long, and are still being elucidated. It is hoped that this review and those to follow in this issue will serve to keep a focus on the critical and continuing problem of tobacco use impacting human development.

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Section: Structural Malformationsmentioning

confidence: 99%

Tobacco and pregnancy: Overview of exposures and effects

Rogers

2008

Birth Defects Research Pt C

171

104

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“…tion during pregnancy might be important in clefting. 1,3 Despite some disparities, studies report moderate but statistically significant association between clefting and maternal use of tobacco and alcohol during pregnancy, especially for CL ± P. 4,5 The transforming growth factor alpha (TGFA) gene is a well-studied candidate gene for oral clefting. TGFA is expressed during craniofacial development in the medial edge epithelium of the palatal shelves.…”

Section: Introductionmentioning

confidence: 99%

TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil

et al. 2012

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We report a study of TGFA / Taq I polymorphisms and environmental factors in non-syndromic oral cleft in Southern Brazil. Nonsyndromic cleft case-parent triads were recruited to participate. Clinical data was collected with an emphasis on tobacco and alcohol use during pregnancy. DNA was extracted from peripheral blood and TGFA / Taq I polymorphisms were analyzed by PCR / RFLP with Taq I restriction enzyme. Association of clefts and TGFA / Taq I polymorphisms was determined using a transmission disequilibrium test (TDT). Association of environmental factors, clefts, and genotypes was evaluated with Fisher's exact test. The minor allele frequency was 0.064. We found no evidence of association between TGFA / Taq I polymorphisms and clefting (TDT p = 0.335). We also found no association between TGFA / Taq I polymorphisms and environmental factors (alcohol and/or tobacco). Therefore, no evidence was found that TGFA / Taq I polymorphisms play a role in clefting in this population. No evidence was found that tobacco or alcohol exposure during pregnancy was related to clefting, however a larger sample size is needed to confirm these results.

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“…The factors that were studied were mainly folic acid and vitamin supplements, smoking, and maternal passive smoking. Furthermore, only a small number of gene variants were analyzed [25][26][27][28]. In our study, we focused on the interaction between environmental factors and maternal genes to assess any direct maternal effect occurring during pregnancy.…”

Section: Gene Environment Interactionmentioning

confidence: 99%

Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study

Alamoudi¹,

Sabbagh²,

Innes³

et al. 2018

J Oral Hyg Health

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The association between interferon regulatory factor 6 (IRF6) and nonsyndromic orofacial cleft (NSOFC) is affected by ethnicity. Also, gene-environment interactions (GEI) may play an important role in its etiology.Objectives: This case-control study investigated whether IRF6 gene variants were associated with NSOFC in Saudi Arabian population and whether the gene was affected by maternal environmental exposures. Methods:We extracted DNA from saliva samples obtained from 171 infant-parent triad cases and 189 matched controls (age, gender, and location) from January 2010-December 2011; this study included a total of 11 referral hospitals in Saudi Arabia. IRF6 (rs2013162, rs2235375, and rs2235371) polymorphisms were genotyped using restriction-digestion polymerase chain reaction. Data on environmental exposures, for GEI analyses, were collected through questionnaire-led interviews with parents. Results:We found statistically significant over transmission of the common IRF6 rs2013162 allele among cleft lip with or without palate CL(P) cases. No associations were found for either of the other two IRF6 SNPs. Maternal exposure to antipyretics, folic acid, fever, antibiotics, illnesses, common cold/flu, paternal water pipe smoking, stress, x-rays, and/or chemicals could significantly interact with the maternal IRF6 (rs2013162 and rs2235375) gene variants, affecting the likelihood of having an offspring with NSOFC. Conclusion:The common allele at IRF6 rs2013162 was significantly over transmitted among CL(P) cases. This study provides hypotheses for future investigations into genetic and environmental factors and their interaction in the etiology of NSOFC.

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Review on genetic variants and maternal smoking in the etiology of oral clefts and other birth defects

Cited by 152 publications

References 119 publications

Tobacco and pregnancy: Overview of exposures and effects

Tobacco and pregnancy: Overview of exposures and effects

TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil

Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study

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