Dataset Information

The joint association between F5 gene polymorphisms and maternal smoking during pregnancy on preterm delivery.

ABSTRACT: Factor V (F5) genetic variants and maternal smoking during pregnancy individually has been associated with increased risk of preterm delivery (PTD). We hypothesize that F5 gene and maternal smoking may synergistically increase the risk of PTD. Three single nucleotide polymorphisms (SNPs) in F5 gene (rs6019, rs2213869 and rs6022) were genotyped in 542 mothers with PTD and 1,141 mothers with term deliveries at the Boston Medical Center. The individual and interactive effects of F5 SNPs and maternal smoking on PTD and gestational age were examined, respectively. The results suggested that maternal smoking, three F5 SNPs and F5 haplotype were individually associated with PTD and gestational age. More importantly, we found significant interactions between the two F5 SNPs (rs6019 and rs6022) and maternal smoking on PTD and gestational age. Compared with non-smoking mothers carrying rs6019 GG genotype, persistently smoking mothers carrying genotypes GC or CC were associated with significantly increased risk of PTD (OR(95% CI): 2.1(1.2-3.6) for GC; 5.7(2.1-15.0) for CC; p-interaction = 0.02). A significant interaction was also observed for gestational age. Similar pattern of interactions was found between rs6022 and maternal smoking on PTD. In summary, our data indicated that F5 gene variants and maternal smoking may synergistically increase the risk of PTD.

SUBMITTER: Yu Y

PROVIDER: S-EPMC4986615 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

The joint association between F5 gene polymorphisms and maternal smoking during pregnancy on preterm delivery.

Yu Yunxian Y Tsai Hui-Ju HJ Liu Xin X Mestan Karen K Zhang Shanchun S Pearson Colleen C Ortiz Katherin K Xu Xiping X Zuckerman Barry B Wang Xiaobin X

Human genetics 20081120 6

Factor V (F5) genetic variants and maternal smoking during pregnancy individually has been associated with increased risk of preterm delivery (PTD). We hypothesize that F5 gene and maternal smoking may synergistically increase the risk of PTD. Three single nucleotide polymorphisms (SNPs) in F5 gene (rs6019, rs2213869 and rs6022) were genotyped in 542 mothers with PTD and 1,141 mothers with term deliveries at the Boston Medical Center. The individual and interactive effects of F5 SNPs and materna ...[more]

PMID: 19020903

Similar Datasets

Project description:Preterm delivery (PTD) is an adverse birth outcome associated with increased infant mortality and negative lifelong health consequences. PTD may be the result of interactions between genetics and maternal/fetal environmental factors including smoking exposure (SMK). A common deletion in the GSTT1 gene was previously reported to affect birth outcomes in smokers. In this study, we dissect the associations among SMK, birth outcomes, and copy number variations (CNVs) in the GSTT1/GSTT2 region. A preterm birth case-control dataset of 1937 mothers was part of the GENEVA preterm birth study, which included genome-wide genotyping used to identify CNVs. We examined the association of SMK with birth outcomes, detected CNVs within the GSTT1/GSTT2 region using PennCNV, and examined associations of the identified CNVs with preterm birth and with birth weight (BW) in full term birth controls, including interactions with SMK. Finally, we tested the association of CNVs in GSTT1/GSTT2 with SMK. We confirmed the association of smoking with low BW and PTD. We identified 2 CNVs in GSTT2 (GSTT2 (a) and GSTT2 (b) ), 1 CNV in GSTTP1 and 2 CNVs in GSTT1 (GSTT1 (a) and GSTT1 (b) ). The GSTT2 (a) deletion was associated with reduced BW (-284 g, p = 2.50E-7) in smokers, and was more common in smokers [odds ratio(OR) = 1.30, p = 0.04]. We found that the size of the reported common deletion CNV in GSTT1 was larger than previously shown. The GSTTP1 and GSTT1 (b) null genotypes were in high linkage disequilibrium (LD) (D' = 0.89) and less common in smokers (OR = 0.68, p = 0.019 and OR = 0.73, p = 0.055, respectively). These two deletions were in partial LD with GSTT2 (a) and GSTT2 (b) duplications. All 5 CNVs seem to be associated with increased risk of preterm birth before 35 completed weeks. CNVs in the GSTTT1/GSTT2 region appear associated with low BW and PTD outcomes, but LD complicated these CNVs in GSTT1/GSTT2. In genetic association studies of BW, multiple CNVs in this region need to be investigated instead of a single polymorphism.

Project description:ImportanceSeveral recent population-based studies have linked exposure to maternal smoking during pregnancy to increased risk of severe mental illness in offspring (eg, bipolar disorder, schizophrenia). It is not yet clear, however, whether this association results from causal teratogenic effects or from confounding influences shared by smoking and severe mental illness.ObjectiveTo examine the association between smoking during pregnancy and severe mental illness in offspring, adjusting for measured covariates and unmeasured confounding using family-based designs.Design, setting, and participantsThis study analyzed population register data through December 31, 2013, for a cohort of 1 680 219 individuals born in Sweden from January 1, 1983, to December 31, 2001. Associations between smoking during pregnancy and severe mental illness in offspring were estimated with adjustment for measured covariates. Cousins and siblings who were discordant on smoking during pregnancy and severe mental illness were then compared, which helped to account for unmeasured genetic and environmental confounding by design.ExposuresMaternal self-reported smoking during pregnancy, obtained from antenatal visits.Main outcomes and measuresSevere mental illness, with clinical diagnosis obtained from inpatient and outpatient visits and defined using International Classification of Diseases codes for bipolar disorder and schizophrenia spectrum disorders.ResultsOf the 1 680 219 offspring included in the analysis, 816 775 (48.61%) were female. At the population level, offspring exposed to moderate and high levels of smoking during pregnancy had greater severe mental illness rates than did unexposed offspring (moderate smoking during pregnancy: hazard ratio [HR], 1.25; 95% CI, 1.19-1.30; high smoking during pregnancy: HR, 1.51; 95% CI, 1.44-1.59). These associations decreased in strength with increasing statistical and methodologic controls for familial confounding. In sibling comparisons with within-family covariates, associations were substantially weaker and nonsignificant (moderate smoking during pregnancy: HR, 1.09; 95% CI, 0.94-1.26; high smoking during pregnancy: HR, 1.14; 95% CI, 0.96-1.35). The pattern of associations was consistent across subsets of severe mental illness disorders and was supported by further sensitivity analyses.Conclusions and relevanceThis population- and family-based study failed to find support for a causal effect of smoking during pregnancy on risk of severe mental illness in offspring. Rather, these results suggest that much of the observed population-level association can be explained by measured and unmeasured factors shared by siblings.

Project description:ImportanceCigarette smoking during pregnancy increases the risk of preterm birth, low birth weight, and infant mortality.ObjectiveTo assess the probability of preterm birth among expectant mothers who smoked cigarettes before pregnancy and quit smoking at the start or during pregnancy.Design, setting, and participantsThis cross-sectional study analyzed information provided on live birth certificates from 2011 through 2017 that were obtained from US states that implemented the 2003 revision of the US live birth certificate. In total, 25?233?503 expectant mothers who delivered live neonates and had known prepregnancy and trimester-specific cigarette smoking frequency were included in the analyses.ExposuresCigarette smoking frequency (1-9, 10-19, and ?20 cigarettes per day) 3 months prior to pregnancy and for each trimester during pregnancy.Main outcomes and measuresCigarette smoking cessation throughout pregnancy, after the first trimester, after the second trimester, and during the third trimester irrespective of first and second trimester smoking. Probability of preterm birth (<37 weeks' gestation).ResultsOf 25?233?503 expectant mothers who delivered live neonates between 2011 and 2017, the modal age at delivery was 25 to 29 years; 52.9% were non-Hispanic white, 23.6% were Hispanic, and 14.2% were non-Hispanic black women; 22?600?196 mothers did not smoke during the 3 months prior to pregnancy, and 2?633?307 smoked during the 3 months prior to pregnancy. The proportion of prepregnancy smokers who quit throughout pregnancy was 24.3% in 2011 and 24.6% in 2017. The proportion of prepregnancy smokers who quit during the third trimester was 39.5% in 2011 and 39.7% in 2017. High-frequency cigarette smoking often occurred among expectant mothers who smoked during pregnancy (eg, 46.9% of third-trimester smokers smoked ?10 cigarettes per day in 2017). The probability of preterm birth decreased more the earlier smoking cessation occurred in pregnancy. For example, the probability of preterm birth was 9.8% (95% CI, 9.7%-10.0%) among 25- to 29-year-old, non-Hispanic white, primigravida and primiparous expectant mothers (ie, pregnant for the first time and not yet delivered) who smoked 1 to 9 cigarettes per day prior to pregnancy and maintained this frequency throughout their pregnancy. The probability of preterm birth was 9.0% (95% CI, 8.8%-9.1%) if smoking cessation occurred at the start of the second trimester (an 8.9% relative decrease), and 7.8% (95% CI, 7.7%-8.0%) if cessation occurred at the start of pregnancy (a 20.3% relative decrease).Conclusions and relevanceQuitting smoking-and quitting early in pregnancy-was associated with reduced risk of preterm birth even for high-frequency cigarette smokers.

Dataset Information

The joint association between F5 gene polymorphisms and maternal smoking during pregnancy on preterm delivery.

Publications

The joint association between F5 gene polymorphisms and maternal smoking during pregnancy on preterm delivery.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets