Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects

Hwang, Shih Jen; Beaty, Terri H.; Panny, Susan R.; Street, Nancy A.; Joseph, Jose; Gordon, Shiela; McIntosh, Iain; Francomano, Clair A.

doi:10.1093/oxfordjournals.aje.a117478

Cited by 208 publications

(126 citation statements)

References 0 publications

Supporting

Mentioning

116

Contrasting

Unclassified

Order By: Relevance

“…In addition, they reported a significantly increased risk of CP associated with the potential interaction between mothers who smoked during pregnancy and infants who carried the rarer C2 allele at the TGFA Taq1 site (odds ratio [OR]: 8.69; 95% confidence interval [CI]: 1.57-47.8). 23 Findings from this study were replicated in an investigation in California 24 but not in investigations in Iowa 25 or Denmark. 26 In these latter studies, however, a family history of clefting was found more frequently among case than among control children.…”

Section: Family History As An Established Risk Factormentioning

confidence: 65%

“…Although a detailed review of these studies is beyond the scope of this discussion, use of selected examples highlights their commonalities. Hwang et al 23 examined the risk of clefting associated with a family history of birth defects, maternal smoking, and variants in the transforming growth factor ␣ gene (TGFA) among case and control children delivered in Maryland from 1984 through 1992. They found a significantly higher frequency of family history of birth defects among case children compared with control children.…”

Section: Family History As An Established Risk Factormentioning

confidence: 99%

See 1 more Smart Citation

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Romitti

2007

Pediatrics

View full text Add to dashboard Cite

A major birth defect is an abnormality that can affect the structure or function of an organ. In the United States, major birth defects are the leading cause of infant mortality and contribute substantially to childhood disability and morbidity. Globally, these conditions lead to the death of millions of infants and children annually. Patients with 1 or more affected family members may be at increased risk for having a child with a major birth defect; thus, accurate knowledge of these conditions among family members of their patients gives the clinician the ability to provide improved risk assessment and reproductive planning. Such knowledge can also serve as motivation for patients to adhere to healthy behaviors such as folic acid use or smoking cessation. To evaluate the utility of collecting family history reports of major birth defects as a public health strategy, 6 key criteria were examined by reviewing the relevant published literature. Overall, the review showed that major birth defects satisfied several of the criteria. Additional research is needed, however, regarding the awareness of parent reports of the occurrence of these conditions among relatives and how knowledge of birth defect diagnoses and related risk factors are transmitted among relatives. Such research needs to encompass not only immediate family members but also other first-degree and second-degree relatives. In summary, routine collection of family history reports of birth defects in pediatric practice holds promise as a public health strategy to reduce the burden of morbidity, mortality, and disability associated with major birth defects. 2 To date, gene discovery using such information has accounted for a small proportion of the total burden of a particular disease (eg, BRCA1 mutations for breast cancer prevention). 3 Less well understood is the contribution of a positive family history as a predictor of common chronic diseases that encompass both genetic and partial genetic origins (ie, multifactorial conditions). 4 For the pediatric patient, birth defects exemplify such multifactorial conditions. Birth defects can be grouped into 2 broad categories: major and minor defects. A major defect is an abnormality of an organ structure or function that results in physical disability, mental disability, or death, 5 whereas a minor defect does not produce significant health consequences. 6 Both major and minor defects can occur as isolated entities, affecting 1 organ system, or as multiple defects, affecting 1 or several organ systems. Alone, minor defects are not considered to have significant health consequences, although their presentation with 1 or more major defects can provide clues to an underlying genetic or teratogenic etiology. Conservatively, estimates suggest that a causal gene or teratogen accounts for Ͻ30% of defects that occur. For the remainder, the most likely explanation is a confluence of genetic and teratogenic exposures and, to a lesser degree, factors such as intrauterine constraint and amniotic bands that can l...

show abstract

Section: Family History As An Established Risk Factormentioning

confidence: 65%

Section: Family History As An Established Risk Factormentioning

confidence: 99%

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Romitti

2007

Pediatrics

View full text Add to dashboard Cite

show abstract

“…TGFA is the most extensively studied gene for gene-environment interaction effects on oral clefts. Significant interaction between TGFA TaqI variant and maternal smoking was first reported by Hwang et al (1995) by analyzing data from a case-control study in Maryland, US. An increased risk for CPO (OR = 7.02, 95% CI: 1.78-27.6) was observed in smoking mothers with infants carrying the TGFA TaqI C2/C2 genotype.…”

Section: Developmental Genes For Oral Clefts Transforming Growth Factmentioning

confidence: 97%

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

Shi

Wehby

Murray

2008

Birth Defects Research Pt C

154

124

View full text Add to dashboard Cite

A spectrum of adverse pregnancy outcomes, including preterm birth, low birth weight, and birth defects has been linked with maternal smoking during pregnancy. This article includes a review of studies investigating interactions between genetic variants and maternal smoking in contributing to birth defects using oral clefting as a model birth defect. The primary gene-smoking studies for other major birth defects are also summarized. Gene-environment interaction studies for birth defects are still at an early stage with several mixed results, but evolving research findings have begun to document clinically and developmentally important interactions. As samples and data become increasingly available, more effort is needed in designing innovative analytical methods to study gene-environment interactions.

show abstract

“…The combination of smoking and the uncommon variant of the gene raises the odds ratio to a highly significant level (Hwang et al, 1995). Another example is the gene-environment interactions that mediate the effects of organophosphate pesticides (Costa et al, 2005).…”

Section: Intrinsic Factorsmentioning

confidence: 99%

Expressing urine from a gel disposable diaper for biomonitoring using phthalates as an example

Liu

Xia

Guo

et al. 2012

J Expo Sci Environ Epidemiol

View full text Add to dashboard Cite

The urinary metabolites of phthalates are well-accepted exposure biomarkers for adults and children older than 6 years but are not commonly used for infants owing to non-convenient sampling. In the light of this situation, a novel sampling method based on monitoring the urine expressed from the gel diaper was developed. The urine was expressed from the gel absorbent after mixing the absorbent with CaCl2 and then collected by a laboratory-made device; the urinary phthalate metabolites were extracted and cleaned using a solid-phase extraction (SPE) column and analyzed with high-performance liquid chromatography-electrospray ionization-tandem mass spectrometry / mass spectrometry. To evaluate the method's feasibility, the following factors were investigated: the proportion of CaCl2 to gel absorbent, the urination volume variation and the target compounds' deposition bias in the diaper, the matrix blank of the different diaper brands, the storage stabilities and the recoveries of creatinine and phthalate metabolites in the expressed urine. Mono-methyl phthalate, mono-ethyl phthalate, mono-butyl phthalate, mono-benzyl phthalate, mono-2-ethylhexyl phthalate and mono-2-ethyl-5-oxohexyl phthalate were involved. 70-80% of the urine can be expressed from the diaper, and the expressed spiking recoveries and the limit of detection of mono-phthalates ranged from 88.5-115% and 0.21-0.50 ng/ml. The method was applied to measure phthalate metabolites in 65 gel diaper samples from 15 infants, and the pilot data suggests the infants are commonly exposed to phthalates. In summary, the method for monitoring of infant exposure to phthalates is sound and validated, and the potential health effects from the vulnerable infants' exposure to phthalates should be concerned.39th Scientific Research Foundation for the Returned Overseas Chinese Scholars (SRF for ROCS); Hundred Talent Program of Chinese Academy of Sciences (CAS); CAS/SAFEA International Partnership Program for Creative Research Teams [KZCX2-YW-T08

show abstract

Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects

Cited by 208 publications

References 0 publications

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

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

Expressing urine from a gel disposable diaper for biomonitoring using phthalates as an example

Contact Info

Product

Resources

About