Dataset Information

Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight.

ABSTRACT: 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.

SUBMITTER: Zheng X

PROVIDER: S-EPMC3809558 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight.

Zheng Xiaojing X Feingold Eleanor E Ryckman Kelli K KK Shaffer John R JR Boyd Heather A HA Feenstra Bjarke B Melbye Mads M Marazita Mary L ML Murray Jeffrey C JC Cuenco Karen T KT

Frontiers in genetics 20131028

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 pre ...[more]

PMID: 24194744

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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.

Project description:ImportanceLow birth weight and preterm birth are associated with adverse consequences including increased risk of infant mortality and chronic health conditions. Black infants are more likely than white infants to be born prematurely, which has been associated with disparities in infant mortality and other chronic conditions.ObjectiveTo evaluate whether Medicaid expansion was associated with changes in rates of low birth weight and preterm birth outcomes, both overall and by race/ethnicity.Design, setting, and participantsUsing US population-based data from the National Center for Health Statistics Birth Data Files (2011-2016), difference-in-differences (DID) and difference-in-difference-in-differences (DDD) models were estimated using multivariable linear probability regressions to compare birth outcomes among infants in Medicaid expansion states relative to non-Medicaid expansion states and changes in relative disparities among racial/ethnic minorities for singleton live births to women aged 19 years and older.ExposuresState Medicaid expansion status and racial/ethnic category.Main outcomes and measuresPreterm birth (<37 weeks' gestation), very preterm birth (<32 weeks' gestation), low birth weight (<2500 g), and very low birth weight (<1500 g).ResultsThe final sample of 15 631 174 births (white infants: 8 244 924, black infants: 2 201 658, and Hispanic infants: 3 944 665) came from the District of Columbia and 18 states that expanded Medicaid (n = 8 530 751) and 17 states that did not (n = 7 100 423). In the DID analyses, there were no significant changes in preterm birth in expansion relative to nonexpansion states (preexpansion to postexpansion period, 6.80% to 6.67% [difference: -0.12] vs 7.86% to 7.78% [difference: -0.08]; adjusted DID: 0.00 percentage points [95% CI, -0.14 to 0.15], P = .98), very preterm birth (0.87% to 0.83% [difference: -0.04] vs 1.02% to 1.03% [difference: 0.01]; adjusted DID: -0.02 percentage points [95% CI, -0.05 to 0.02], P = .37), low birth weight (5.41% to 5.36% [difference: -0.05] vs 6.06% to 6.18% [difference: 0.11]; adjusted DID: -0.08 percentage points [95% CI, -0.20 to 0.04], P = .20), or very low birth weight (0.76% to 0.72% [difference: -0.03] vs 0.88% to 0.90% [difference: 0.02]; adjusted DID: -0.03 percentage points [95% CI, -0.06 to 0.01], P = .14). Disparities for black infants relative to white infants in Medicaid expansion states compared with nonexpansion states declined for all 4 outcomes, indicated by a negative DDD coefficient for preterm birth (-0.43 percentage points [95% CI, -0.84 to -0.02], P = .05), very preterm birth (-0.14 percentage points [95% CI, -0.26 to -0.02], P = .03), low birth weight (-0.53 percentage points [95% CI, -0.96 to -0.10], P = .02), and very low birth weight (-0.13 percentage points [95% CI, -0.25 to -0.01], P = .04). There were no changes in relative disparities for Hispanic infants.Conclusions and relevanceBased on data from 2011-2016, state Medicaid expansion was not significantly associated with differences in rates of low birth weight or preterm birth outcomes overall, although there were significant improvements in relative disparities for black infants compared with white infants in states that expanded Medicaid vs those that did not.

Project description:BackgroundThe rate of low birth weight or preterm birth is known to vary according to the birth place of mothers. However, in Japan, studies that investigated the association between maternal nationalities and adverse birth outcomes are few. In this study, we investigated the association between maternal nationalities and adverse birth outcomes.MethodsWe obtained live birth data from the Vital Statistics 2016-2020 of the Ministry of Health, Labour, and Welfare. We used data on maternal age, sex, parity, gestational age, birth weight, number of fetuses, household occupation, paternal nationality, and maternal nationality for each infant. We compared the rates of preterm birth and low birth weight at term among mothers whose nationalities were Japan, Korea, China, Philippines, Brazil, and other countries. Log binomial regression model was used to investigate the association between maternal nationality and the two birth outcomes using the other infants' characteristics as covariates.ResultsIn the analysis, data on 4,290,917 singleton births were used. Mothers from Japan, Korea, China, the Philippines, Brazil, and other nations had preterm birth rates of 4.61%, 4.16%, 3.97%, 7.43%, 7.69%, and 5.61%, respectively. The low birth weight rate among Japanese mothers was 5.36% and was the highest among the maternal nationalities. Regression analysis showed that the relative risk for preterm birth among Filipino, Brazilian, and mothers from other countries (1.520, 1.329, and 1.222, respectively) was statistically significantly higher compared with Japanese mothers. In contrast, the relative risk for Korean and Chinese mothers (0.870 and 0.899, respectively) was statistically significantly lower compared with Japanese mothers. Mothers from Korea, China, the Philippines, Brazil, and other nations had a relative risk for low birth weight that was statistically significantly lower than that of Japanese mothers (0.664, 0.447, 0.867, 0.692, and 0.887, respectively).ConclusionsSupport for mothers from the Philippines, Brazil, and other countries are necessary to prevent preterm birth. A future study is necessary to investigate the differences in characteristics among mothers of different nationalities in order to uncover the reason for the high risk for low birth weight among Japanese mothers.

Project description:ObjectivesTo estimate the effect of HIV infection on the risk of preterm birth (PTB) and low birth weight (LBW) among Chinese pregnancy women.DesignA retrospective cohort study included HIV-positive pregnant women who gave birth to singletons in Chengdu between 2011 and 2020 and and HIV-negative pregnant women who delivered singletons at the Chengdu Women's and Children's Central Hospital in 2020.SettingData of pregnant women living with HIV were extracted from China's Information System of Prevention of Mother-to-Child Transmission of HIV Management. Additionally, information for HIV-negative pregnant women was extracted from the electronic medical record system of the Chengdu Women's and Children's Central Hospital.Participants755 HIV-positive women and 15,094 HIV-negative pregnant women were included.Primary outcome measuresPTB and LBW rates, which were defined by gestational weeks and birth weight.ResultsThe incidences of PTB and LBW (13.51% and 14.17%, respectively) were significantly higher in the HIV-positive group compared with the HIV-negative group (6.82% and 4.65%). Propensity score matching was performed to improve comparability of the two groups, resulting in 1590 pregnancies with 558 HIV-positive and 1032 HIV-negative women in the final analysis. Conditional logistic regression was used to estimate the effect of maternal HIV status on adverse pregnancy outcomes. After propensity score matching and controlling the potential confounders, HIV infection was strongly associated with higher chances of LBW and PTB with adjusted odd ratios (95% confidence interval) of 2.53 (1.74 to 3.68) and 1.95 (1.33 to 2.85), respectively.ConclusionsHIV infection was significantly associated with increased risks of PTB and LBW in Chinese pregnant women. Future studies should focus on investigating the mechanisms underlying the association between HIV infection and adverse birth outcomes, and on identifying strategies to reduce the incidence of PTB and LBW in pregnant women living with HIV.

Project description:ImportanceDiabetes in pregnancy is associated with a 2-times to 3-times higher rate of very preterm birth than in women without diabetes. Very preterm infants are at high risk of death and severe morbidity. The association of maternal diabetes with these risks is unclear.ObjectiveTo determine the associations between maternal diabetes and in-hospital mortality, as well as neonatal morbidity in very preterm infants with a birth weight of less than 1500 g.Design, setting, participantsThis retrospective cohort study was conducted at 7 national networks in high-income countries that are part of the International Neonatal Network for Evaluating Outcomes in Neonates and used prospectively collected data on 76?360 very preterm, singleton infants without malformations born between January 1, 2007, and December 31, 2015, at 24 to 31 weeks' gestation with birth weights of less than 1500 g, 3280 (4.3%) of whom were born to diabetic mothers.ExposuresAny type of diabetes during pregnancy.Main outcomes and measuresThe primary outcome was in-hospital mortality. The secondary outcomes were severe neonatal morbidities, including intraventricular hemorrhages of grade 3 to 4, cystic periventricular leukomalacia, retinopathy of prematurity needing treatment and bronchopulmonary dysplasia, and other morbidities, including respiratory distress, treated patent ductus arteriosus, and necrotizing enterocolitis. Odds ratios (ORs) with 95% confidence intervals were estimated, adjusted for potential confounders, and stratified by gestational age (GA), sex, and network.ResultsThe mean (SD) birth weight of offspring born to mothers with diabetes was significantly higher at 1081 (262) g than in offspring born to mothers without diabetes (mean [SD] birth weight, 1027 [270] g). Mothers with diabetes were older and had more hypertensive disorders, antenatal steroid treatments, and deliveries by cesarean delivery than mothers without diabetes. Infants of mothers with diabetes were born at a later GA than infants of mothers without diabetes. In-hospital mortality (6.6% vs 8.3%) and the composite of mortality and severe morbidity (31.6% vs 40.6%) were lower in infants of mothers with diabetes. However, in adjusted analyses, no significant differences in in-hospital mortality (adjusted OR, 1.16 (95% CI, 0.97-1.39) or the composite of mortality and severe morbidity (adjusted OR, 0.99 (95% CI, 0.88-1.10) were observed. With few exceptions, outcomes of infants born to mothers with and without diabetes were similar regardless of infant sex, GA, or country of birth.Conclusions and relevanceIn high-resource settings, maternal diabetes is not associated with an increased risk of in-hospital mortality or severe morbidity in very preterm infants with a birth weight of fewer than 1500 g.

Dataset Information

Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight.

Publications

Association of maternal CNVs in GSTT1/GSTT2 with smoking, preterm delivery, and low birth weight.

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