The <i>NAT1</i> C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida

Jensen, Liselotte E.; Hoess, Katy; Whitehead, Alexander S.; Mitchell, Laura E.

doi:10.1002/bdra.20143

Cited by 42 publications

(29 citation statements)

References 15 publications

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“…Using a Swedish registry sample, Kallen (1998) reported a protective effect of smoking on NTDs (OR = 0.75; 95% CI: 0.61-0.91), but no effects of smoking were observed with the California sample . Interaction between smoking and fetal NAT1 C1095A variant has been reported using a family-based study with larger risk effects of smoking on spina bifida in infants carrying the 1095A allele (Jensen et al, 2005). One recent study (Suarez et al, 2007) did find effects of maternal smoking on NTD risk in a Mexican-American population.…”

Section: Neural Tube Defectsmentioning

confidence: 94%

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

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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.

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Section: Neural Tube Defectsmentioning

confidence: 94%

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

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“…[1][2][3][4] Although less well-established, human NAT1 also exhibits genetic polymorphism and several studies have suggested that variant NAT1 genotypes are associated with susceptibility to a number of diseases including various cancers 2,5 and birth defects. [6][7][8][9][10] The biological plausibility of these associations is based upon the role of human NAT1 in the metabolism of endogenous or exogenous agents. Single nucleotide polymorphisms (SNPs) in the human NAT1 coding region, present in less than 5% of Americans, Canadians and Europeans 11 but present in 25% of Lebanese 12 have been shown to modify risk of spina bifida.…”

Section: Introductionmentioning

confidence: 99%

Functional effects of single nucleotide polymorphisms in the coding region of human N-acetyltransferase 1

Zhu

Hein

2007

Pharmacogenomics J

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Genetic variants of human N-acetyltransferase 1 (NAT1) are associated with cancer and birth defects. N-and O-acetyltransferase catalytic activities, Michaelis-Menten kinetic constants (K m and V max ) and steady-state expression levels of NAT1-specific mRNA and protein were determined for the reference NAT1*4 and variant human NAT1 haplotypes possessing single nucleotide polymorphisms (SNPs) in the open reading frame. Although none of the SNPs caused a significant effect on steady-state levels of NAT1-specific mRNA, C97T(R33stop), C190T(R64W), C559T (R187stop) and A752T(D251V) each reduced NAT1 protein level and/or N-and O-acetyltransferase catalytic activities to levels below detection. G560A(R187Q) substantially reduced NAT1 protein level and catalytic activities and increased substrate K m . The G445A(V149I), G459A(synonymous) and T640G(S214A) haplotype present in NAT1*11 significantly (Po0.05) increased NAT1 protein level and catalytic activity. Neither T21G(synonymous), T402C(synonymous), A613G(M205V), T777C(synonymous), G781A(E261K) nor A787G(I263V) significantly affected K m , catalytic activity, mRNA or protein level. These results suggest heterogeneity among slow NAT1 acetylator phenotypes.

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“…Maternal smoking during pregnancy has been identified as the most important determinant of birth weight in developed countries (7) and may increase the risk of neural tube defects (8,9), orofacial clefts (10,11), and congenital heart defects (12). Adequate folate status is associated with a reduced risk of each of these outcomes (13)(14)(15)(16).…”

Section: Introductionmentioning

confidence: 99%

Maternal smoking is associated with decreased 5-methyltetrahydrofolate in cord plasma

Pawlosky¹,

Sokol²,

Hannigan³

et al. 2007

The American Journal of Clinical Nutrition

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Background: Maternal-fetal folate transport via the placenta has been shown to be concentrative. Exposure to cigarette smoke is associated with decreased maternal folate status through altered dietary intakes and possibly through nondietary mechanisms such as increased folate turnover. The effect of maternal smoking on fetal folate status has not been documented. Objective: The objective was to determine the effect of maternal smoking on plasma 5-methyltetrahydrofolic acid (5-MTHFA) concentrations in umbilical cord blood. Design: African American women were recruited from an antenatal clinic in Detroit, MI. Plasma 5-MTHFA concentrations were measured in maternal-umbilical cord pairings (n ҃ 58). The participants completed a structured interview to determine demographic characteristics, including smoking. Results: Concentrations of 5-MTHFA were significantly higher in venous cord plasma (16.8 Ȁ 7.5 ng/mL) than in maternal plasma (13.0 Ȁ 7.5 ng/mL) but remained associated (r ҃ 0.60, P 0.001) with each other. Cigarettes smoked by the mothers was negatively associated (r ҃ Ҁ0.31, P ҃ 0.019) with venous cord 5-MTHFA concentrations and remained so after control for maternal plasma 5-MTHFA and other variables. Venous cord plasma 5-MTHFA was significantly lower in smoking (15.1 Ȁ 7.6 ng/mL; n ҃ 32) than in nonsmoking (19.0 Ȁ 7.0 ng/mL; n ҃ 26) mothers. Conclusions: Cord plasma 5-MTHFA concentrations were elevated relative to maternal blood, as expected, because the placenta is capable of concentrative folate transport to the fetus. The negative effect of maternal smoking on infant, but not on maternal, 5-MTHFA status indicates that maternal smoking may impair folate transport to the fetus.Am J Clin Nutr 2007;85:796 -802.

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The NAT1 C1095A polymorphism, maternal multivitamin use and smoking, and the risk of spina bifida

Cited by 42 publications

References 15 publications

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

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

Functional effects of single nucleotide polymorphisms in the coding region of human N-acetyltransferase 1

Maternal smoking is associated with decreased 5-methyltetrahydrofolate in cord plasma

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