Gary M Shaw

Palo Alto University, إاست بالو ألتو، سان ماتيو، كاليفورنيا, California, United States

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Publications (406)1483.41 Total impact

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    ABSTRACT: Objective: To quantify the importance of successful endotracheal intubation on the first attempt among extremely low birth weight (ELBW) infants who require resuscitation after delivery. Study design: A retrospective chart review was conducted for all ELBW infants ⩽1000 g born between January 2007 and May 2014 at a level IV neonatal intensive care unit. Infants were included if intubation was attempted during the first 5 min of life or if intubation was attempted during the first 10 min of life with heart rate <100. The primary outcome was death or neurodevelopmental impairment. The association between successful intubation on the first attempt and the primary outcome was assessed using multivariable logistic regression with adjustment for birth weight, gestational age, gender and antenatal steroids. Results: The study sample included 88 ELBW infants. Forty percent were intubated on the first attempt and 60% required multiple intubation attempts. Death or neurodevelopmental impairment occurred in 29% of infants intubated on the first attempt, compared with 53% of infants that required multiple attempts, adjusted odds ratio 0.4 (95% confidence interval 0.1 to 1.0), P<0.05. Conclusion: Successful intubation on the first attempt is associated with improved neurodevelopmental outcomes among ELBW infants. This study confirms the importance of rapid establishment of a stable airway in ELBW infants requiring resuscitation after birth and has implications for personnel selection and role assignment in the delivery room.Journal of Perinatology advance online publication, 5 November 2015; doi:10.1038/jp.2015.158.
    Journal of perinatology: official journal of the California Perinatal Association 11/2015; DOI:10.1038/jp.2015.158 · 2.07 Impact Factor

  • Proceedings of the National Academy of Sciences 10/2015; DOI:10.1073/pnas.1517939112 · 9.67 Impact Factor
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    PLoS ONE 10/2015; 10(10):e0138549. DOI:10.1371/journal.pone.0138549 · 3.23 Impact Factor
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    ABSTRACT: Importance: There is a well-described association between maternal diabetes mellitus and risk of congenital heart disease (CHD) in offspring. Although the clinical diagnoses of type 2 diabetes or gestational diabetes are strong risk factors for CHD, subclinical abnormalities of glucose and insulin metabolism are common within the general population and could also confer risk for CHD. We hypothesize that continuous measures of blood analytes related to maternal diabetes are related to odds of cardiac malformations. Objective: To explore the potential association of 2 different CHD phenotypes in offspring with maternal midpregnancy measures of glucose and insulin. Design, setting, and participants: Case-control study from a population-based cohort of 277 pregnant women in southern and central California carrying infants with tetralogy of Fallot (TOF) (n = 55), dextrotransposition of the great arteries (dTGA) (n = 42), or healthy infants without CHD (n = 180). Serum samples were collected from 2003 through 2007. The analysis was conducted from March through June 2015. Main outcomes and measures: Blood analytes related to maternal glucose metabolism were measured from random nonfasting second-trimester blood samples. We measured serum insulin levels by a validated radioimmunoassay, and we measured glucose levels. Multivariable logistic regression models estimated the association between these levels and case status. Results: Serum glucose values were elevated in the maternal samples for offspring with TOF (median, 97.0 mg/dL [to convert to millimoles per liter, multiply by 0.0555]) relative to controls (median, 91.5 mg/dL) (P = .01, Wilcoxon rank sum test), a phenomenon not observed in the maternal samples for offspring with dTGA (median, 90.0 mg/dL) relative to controls (P = .18, Wilcoxon rank sum test). Serum insulin levels were significantly different between controls (median, 18.8 μIU/mL [to convert to picomoles per liter, multiply by 6.945]) and maternal samples for offspring with dTGA (median, 13.1 μIU/mL; P = .048, Wilcoxon rank sum test) but not with TOF (median, 14.3 μIU/mL; P = .35, Wilcoxon rank sum test). Relative to maternal blood glucose levels of infants without cardiac malformations, we observed that maternal blood glucose levels in models including insulin were strongly associated with odds of TOF (adjusted odds ratio = 7.54; 95% CI, 2.30-24.69) but not with dTGA (adjusted odds ratio = 1.16; 95% CI, 0.28-4.79). Conclusions and relevance: These results represent a direct correlation of glucose as a continuous variable to odds of specific cardiac malformations. The association between serum glucose and odds of TOF indicates the need for additional epidemiological and mechanistic investigations into the risk conferred by insulin signaling and glucose metabolism during early pregnancy.
    10/2015; DOI:10.1001/jamapediatrics.2015.2831
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    ABSTRACT: Background: Environmental pollutants and neighbourhood socioeconomic factors have been associated with neural tube defects, but the potential impact of interaction between ambient air pollution and neighbourhood socioeconomic factors on the risks of neural tube defects is not well understood. Methods: We used data from the California Center of the National Birth Defects Study and the Children's Health and Air Pollution Study to investigate whether associations between air pollutant exposure in early gestation and neural tube defects were modified by neighbourhood socioeconomic factors in the San Joaquin Valley of California, 1997-2006. There were 5 pollutant exposures, 3 outcomes, and 9 neighbourhood socioeconomic factors included for a total of 135 investigated associations. Estimates were adjusted for maternal race-ethnicity, education, and multivitamin use. Results: We present below odds ratios (ORs) that exclude 1 and a chi-square test of homogeneity P-value of <0.05. We observed increased odds of spina bifida comparing the highest to lowest quartile of particulate matter <10 μm (PM10 ) among those living in a neighbourhood with: (i) median household income of less than $30 000 per year [OR 5.1, 95% confidence interval (CI) 1.7, 15.3]; (ii) more than 20% living below the federal poverty level (OR 2.6, 95% CI 1.1, 6.0); and (iii) more than 30% with less than or equal to a high school education (OR 3.2, 95% CI 1.4, 7.4). The ORs were not statistically significant among those higher socioeconomic status (SES) neighbourhoods. Conclusions: Our results demonstrate effect modification by neighbourhood socioeconomic factors in the association of particulate matter and neural tube defects in California.
    Paediatric and Perinatal Epidemiology 10/2015; 29(6):536-545. DOI:10.1111/ppe.12244 · 3.13 Impact Factor
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    ABSTRACT: Objective To evaluate whether better diet quality in mothers is associated with lower risk for major non-syndromic congenital heart defects in their children. Design Multicentre population-based case–control study, the National Birth Defects Prevention Study. Setting Ten sites in the USA. Participants Mothers of babies with major non-syndromic congenital heart defects (n=9885) and mothers with unaffected babies (n=9468) with estimated date of delivery from 1997 to 2009. Main outcome measures Adjusted ORs for specific major congenital heart defects by quartiles of maternal diet quality in the year before pregnancy, assessed by the Diet Quality Index for pregnancy (DQI-P) and the Mediterranean Diet Score. Quartile 1 (Q1) reflecting the worst diet quality and Q4 the best diet quality. Results Better diet quality was associated with reduced risk for some conotruncal and atrial septal heart defects. For DQI-P, estimated risks reductions (Q4 vs Q1) for conotruncal defects were 37% for tetralogy of Fallot (OR 0.63, 95% CI 0.49 to 0.80) and 24% overall (OR 0.76, 95% CI 0.64 to 0.91); and for septal defects, 23% for atrial septal defects (OR 0.77, 95% CI 0.63 to 0.94) and 14% overall (OR 0.86, 95% CI 0.75 to 1.00). Risk reductions were weaker or minimal for most other major congenital heart defects. Conclusions Better diet quality is associated with a reduced occurrence of some conotruncal and septal heart defects. This finding suggests that a reduction in certain cardiac malformations may be an additional benefit of improved maternal diet quality, reinforcing current preconception care recommendations.
    Archives of Disease in Childhood - Fetal and Neonatal Edition 08/2015; DOI:10.1136/archdischild-2014-308013 · 3.12 Impact Factor
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    ABSTRACT: Despite the critical role of the human microbiota in health, our understanding of microbiota compositional dynamics during and after pregnancy is incomplete. We conducted a case-control study of 49 pregnant women, 15 of whom delivered preterm. From 40 of these women, we analyzed bacterial taxonomic composition of 3,767 specimens collected prospectively and weekly during gestation and monthly after delivery from the vagina, distal gut, saliva, and tooth/gum. Linear mixed-effects modeling, medoid-based clustering, and Markov chain modeling were used to analyze community temporal trends, community structure, and vaginal community state transitions. Microbiota community taxonomic composition and diversity remained remarkably stable at all four body sites during pregnancy (P > 0.05 for trends over time). Prevalence of a Lactobacillus-poor vaginal community state type (CST 4) was inversely correlated with gestational age at delivery (P = 0.0039). Risk for preterm birth was more pronounced for subjects with CST 4 accompanied by elevated Gardnerella or Ureaplasma abundances. This finding was validated with a set of 246 vaginal specimens from nine women (four of whom delivered preterm). Most women experienced a postdelivery disturbance in the vaginal community characterized by a decrease in Lactobacillus species and an increase in diverse anaerobes such as Peptoniphilus, Prevotella, and Anaerococcus species. This disturbance was unrelated to gestational age at delivery and persisted for up to 1 y. These findings have important implications for predicting premature labor, a major global health problem, and for understanding the potential impact of a persistent, altered postpartum microbiota on maternal health, including outcomes of pregnancies following short interpregnancy intervals.
    Proceedings of the National Academy of Sciences 08/2015; 112(35):201502875. DOI:10.1073/pnas.1502875112 · 9.67 Impact Factor
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    ABSTRACT: To study the relationship between maternal asthma and the development of bronchopulmonary dysplasia (BPD). Using a large population-based California cohort, we investigated associations between maternal asthma and preterm birth subtype, as well as maternal asthma and BPD. We used data from 2007-2010 maternal delivery discharge records of 2 009 511 pregnancies and International Classification of Diseases, Ninth Revision codes. Preterm birth was defined as <37 weeks gestational age (GA), with subgroups of <28 weeks, 28-32 weeks, and 33-37 weeks GA, as well as preterm subtype, defined as spontaneous, medically indicated, or unknown. Linkage between the 2 California-wide datasets yielded 21 944 singleton preterm infants linked to their mother's records, allowing estimation of the risk of BPD in mothers with asthma and those without asthma. Maternal asthma was associated with increased odds (OR, 1.42; 95% CI, 1.38-1.46) of preterm birth at <37 weeks GA, with the greatest risk for 28-32 GA (aOR, 1.60; 95% CI, 1.47-1.74). Among 21 944 preterm infants, we did not observe an elevated risk for BPD in infants born to mothers with asthma (aOR, 1.03; 95% CI, 0.9-1.2). Stratification by maternal treatment with antenatal steroids revealed increased odds of BPD in infants whose mothers had asthma but did not receive antenatal steroids (aOR, 1.54; 95% CI, 1.15-2.06), but not in infants whose mothers had asthma and were treated with antenatal steroids (aOR, 0.85; 95% CI, 0.67-1.07). Asthma in mothers who did not receive antenatal steroid treatment is associated with an increased risk of BPD in their preterm infants. Copyright © 2015 Elsevier Inc. All rights reserved.
    The Journal of pediatrics 08/2015; DOI:10.1016/j.jpeds.2015.06.048 · 3.79 Impact Factor

  • Annals of epidemiology 08/2015; 25(11). DOI:10.1016/j.annepidem.2015.08.005 · 2.00 Impact Factor
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    ABSTRACT: Single-cell technologies have immense potential to shed light on molecular and biological processes that drive human diseases. Mass cytometry (or Cytometry by Time Of Flight mass spectrometry, CyTOF) has already been employed in clinical studies to comprehensively survey patients' circulating immune system. As interest in the "bedside" application of mass cytometry is growing, the delineation of relevant methodological issues is called for. This report uses a newly generated dataset to discuss important methodological considerations when mass cytometry is implemented in a clinical study. Specifically, the use of whole blood samples versus peripheral blood mononuclear cells (PBMCs), design of mass-tagged antibody panels, technical and analytical implications of sample barcoding, and application of traditional and unsupervised approaches to analyze high-dimensional mass cytometry datasets are discussed. A mass cytometry assay was implemented in a cross-sectional study of 19 women with a history of term or preterm birth to determine whether immune traits in peripheral blood differentiate the two groups in the absence of pregnancy. Twenty-seven phenotypic and 11 intracellular markers were simultaneously analyzed in whole blood samples stimulated with lipopolysaccharide (LPS at 0, 0.1, 1, 10, and 100 ng mL-1) to examine dose-dependent signaling responses within the toll-like receptor 4 (TLR4) pathway. Complementary analyses, grounded in traditional or unsupervised gating strategies of immune cell subsets, indicated that the prpS6 and pMAPKAPK2 responses in classical monocytes are accentuated in women with a history of preterm birth (FDR<1%). The results suggest that women predisposed to preterm birth may be prone to mount an exacerbated TLR4 response during the course of pregnancy. This important hypothesis-generating finding points to the power of single-cell mass cytometry to detect biologically important differences in a relatively small patient cohort.
    Cytometry Part A 07/2015; 87(9). DOI:10.1002/cyto.a.22720 · 2.93 Impact Factor
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    ABSTRACT: In Scandinavia, delivery of a first-born son elevates the risk of preterm delivery and intrauterine growth restriction of the next-born infant. External validity of these results remains unclear. We test this hypothesis for preterm delivery and growth restriction using the linked California birth cohort file. We examined the hypothesis separately by race and/or ethnicity. We retrieved data on 2,852,976 births to 1,426,488 mothers with at least two live births. Our within-mother tests applied Cox proportional hazards (preterm delivery, defined as less than 37 weeks gestation) and linear regression models (birth weight for gestational age percentiles). For non-Hispanic whites, Hispanics, Asians, and American Indian and/or Alaska Natives, analyses indicate heightened risk of preterm delivery and growth restriction after a first-born male. The race-specific hazard ratios for preterm delivery range from 1.07 to 1.18. Regression coefficients for birth weight for gestational age percentile range from -0.73 to -1.49. The 95% confidence intervals for all these estimates do not contain the null. By contrast, we could not reject the null for non-Hispanic black mothers. Whereas California findings generally support those from Scandinavia, the null results among non-Hispanic black mothers suggest that we do not detect adverse outcomes after a first-born male in all racial and/or ethnic groups. Copyright © 2015 Elsevier Inc. All rights reserved.
    Annals of epidemiology 07/2015; 25(10). DOI:10.1016/j.annepidem.2015.07.002 · 2.00 Impact Factor
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    ABSTRACT: Spina bifida is the most common form of neural tube defects (NTDs). Etiologies of NTDs are multifactorial, and oxidative stress is believed to play a key role in NTD development. Heme oxygenase (HO), the rate-limiting enzyme in heme degradation, has multiple protective properties including mediating antioxidant processes, making it an ideal candidate for study. The inducible HO isoform (HO-1) has two functional genetic polymorphisms: (GT)n dinucleotide repeats and A(-413)T SNP (rs2071746), both of which can affect its promoter activity. However, no study has investigated a possible association between HO-1 genetic polymorphisms and risk of NTDs. This case-control study included 152 spina bifida cases (all myelomeningoceles) and 148 nonmalformed controls obtained from the California Birth Defects Monitoring Program reflecting births during 1990 to 1999. Genetic polymorphisms were determined by polymerase chain reaction and amplified fragment length polymorphisms/restriction fragment length polymorphisms using genomic DNA extracted from archived newborn blood spots. Genotype and haplotype frequencies of two HO-1 promoter polymorphisms between cases and controls were compared. For (GT)n dinucleotide repeat lengths and the A(-413)T SNP, no significant differences in allele frequencies or genotypes were found. Linkage disequilibrium was observed between the HO-1 polymorphisms (D': 0.833); however, haplotype analyses did not show increased risk of spina bifida overall or by race/ethnicity. Although, an association was not found between HO-1 polymorphisms and risk of spina bifida, we speculate that the combined effect of low HO-1 expression and exposures to known environmental oxidative stressors (low folate status or diabetes), may overwhelm antioxidant defenses and increase risk of NTDs and warrants further study. Birth Defects Research (Part A), 2014. © 2014 Wiley Periodicals, Inc. © 2014 Wiley Periodicals, Inc.
    Journal of Investigative Medicine 07/2015; 63(1):174-175. DOI:10.1002/bdra.23343 · 1.69 Impact Factor
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    ABSTRACT: Short height and obesity have each been associated with increased risk for preterm birth (PTB). However, the effect of short height on PTB risk, across different race/ethnicities and BMI categories, has not been studied. Our objective was to determine the influence of maternal height on the risk for PTB within race/ethnic groups, BMI groups, or adjusted for weight. All California singleton, live births between 2007-2010 were included from birth certificate data (vital statistics) linked to hospital discharge data. Pre-pregnancy BMI (kg/m(2)) was categorized as underweight (< 18.5); normal (18.5-24.9); overweight (25.0-29.9) or obese (≥30.0). Maternal race/ethnicity was categorized as: Non-Hispanic White, Non-Hispanic Black, Hispanic and Asian. Maternal height was classified into 5 categories (shortest, short, middle, tall, tallest) based on racial/ethnic-specific height distributions, with the middle category serving as reference. Poisson regression models were used to estimate relative risks (RR) for the association between maternal height and risk of spontaneous PTB (< 37 weeks and < 32 weeks). Models were stratified on race/ethnicity and BMI. Generalized additive regression models (GAM) were used to detect nonlinearity of the association. Covariates considered were: maternal age, weight, parity, prenatal care, education, medical payment, previous PTB, gestational and pre-gestational diabetes, pre-gestational hypertension, preeclampsia/eclampsia, and smoking. Among 1,655,385 California singleton live births, 5.2% were spontaneous preterm births < 37 weeks. Short stature (1st height category) was associated with increased risk for PTB for Non-Hispanic Whites and Hispanics across all BMI categories. Among obese women, tall stature (5th category) was associated with reduced risk for spontaneous PTB for Non-Hispanic Whites, Asians and Hispanics. Same pattern of association was seen for height and risk for spontaneous PTB < 32 weeks. In the GAM plots, short stature was associated with increased risk for spontaneous PTB of < 32 and <37 weeks of gestation among Whites and Asians. However, this association was not observed for Blacks and Hispanics. Maternal shorter height is associated with a modest increased risk for spontaneous PTB regardless of BMI. Our results suggest that PTB risk assessment should consider race/ethnicity specific height with respect to the norm in addition to BMI assessment. Copyright © 2015 Elsevier Inc. All rights reserved.
    American journal of obstetrics and gynecology 07/2015; DOI:10.1016/j.ajog.2015.07.005 · 4.70 Impact Factor

  • NeoReviews 07/2015; 16(7):e431-e433. DOI:10.1542/neo.16-7-e431
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    ABSTRACT: To examine the relationship between maternal characteristics, serum biomarkers and preterm birth (PTB) by spontaneous and medically indicated subtypes. Population-based cohort. California, United States of America. From a total population of 1 004 039 live singleton births in 2009 and 2010, 841 665 pregnancies with linked birth certificate and hospital discharge records were included. Characteristics were compared for term and preterm deliveries by PTB subtype using logistic regression and odds ratios adjusted for maternal characteristics and obstetric factors present in final stepwise models and 95% confidence intervals. First-trimester and second-trimester serum marker levels were analysed in a subset of 125 202 pregnancies with available first-trimester and second-trimester serum biomarker results. PTB by subtype. In fully adjusted models, ten characteristics and three serum biomarkers were associated with increased risk in each PTB subtype (Black race/ethnicity, pre-existing hypertension with and without pre-eclampsia, gestational hypertension with pre-eclampsia, pre-existing diabetes, anaemia, previous PTB, one or two or more previous caesarean section(s), interpregnancy interval ≥ 60 months, low first-trimester pregnancy-associated plasma protein A, high second-trimester α-fetoprotein, and high second-trimester dimeric inhibin A). These risks occurred in 51.6-86.2% of all pregnancies ending in PTB depending on subtype. The highest risk observed was for medically indicated PTB <32 weeks in women with pre-existing hypertension and pre-eclampsia (adjusted odds ratio 89.7, 95% CI 27.3-111.2). Our findings suggest a shared aetiology across PTB subtypes. These commonalities point to targets for further study and exploration of risk reduction strategies. Findings suggest a shared aetiology across preterm birth subtypes. Patterns may inform risk reduction efforts. © 2015 Royal College of Obstetricians and Gynaecologists.
    BJOG An International Journal of Obstetrics & Gynaecology 06/2015; 122(11). DOI:10.1111/1471-0528.13495 · 3.45 Impact Factor
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    ABSTRACT: An inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) peptide (QLGLPGPPDVPDHAAYHPF) was previously identified as a preterm birth biomarker from a predominantly (∼75%) African-American cohort. Because there is a single nucleotide polymorphism (SNP) at position 669 of interalpha-trypsin inhibitor heavy chain 4 (ITIH4), we hypothesized that the "L" peptide isoform (LLGLPGPPDVPDHAAYHPF) would be found in the sera of patients of different ethnic backgrounds and that reduction of the "L" isoform serum abundance would also be associated with human preterm birth (<37 weeks gestation), similar to the reported "Q" isoform. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) profiling of term pregnancies (n=14) identified the "L" isoform peptide, which remained largely unchanged throughout gestation. Subsequent quantitative proteomics based on stable isotope dilution (SID) quantified the ITIH4 "L" isoform peptide serum abundance in a cohort of uncomplicated term pregnancies (n=14) and pregnancies complicated by preterm birth (n=11) subjects.Our results showed that the reduction of the "L" peptide's serum quantity is associated with the clinical state of preterm birth (p value < 0.001). We concluded that the "L" ITIH4 peptide is a potential biomarker predictive of preterm birth and the validation of the L isoform in a prospective series of pregnancies should be performed.
    Journal of Genetics and Genomics 06/2015; 42(9). DOI:10.1016/j.jgg.2015.06.001 · 3.59 Impact Factor
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    ABSTRACT: The National Birth Defects Prevention Study (NBDPS) is a large population-based multicenter case-control study of major birth defects in the United States. Data collection took place from 1998 through 2013 on pregnancies ending between October 1997 and December 2011. Cases could be live born, stillborn, or induced terminations, and were identified from birth defects surveillance programs in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas, and Utah. Controls were live born infants without major birth defects identified from the same geographical regions and time periods as cases by means of either vital records or birth hospitals. Computer-assisted telephone interviews were completed with women between 6 weeks and 24 months after the estimated date of delivery. After completion of interviews, families received buccal cell collection kits for the mother, father, and infant (if living). There were 47,832 eligible cases and 18,272 eligible controls. Among these, 32,187 (67%) and 11,814 (65%), respectively, provided interview information about their pregnancies. Buccal cell collection kits with a cytobrush for at least one family member were returned by 19,065 case and 6,211 control families (65% and 59% of those who were sent a kit). More than 500 projects have been proposed by the collaborators and over 200 manuscripts published using data from the NBDPS through December 2014. The NBDPS has made substantial contributions to the field of birth defects epidemiology through its rigorous design, including case classification, detailed questionnaire and specimen collection, large study population, and collaborative activities across Centers. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 06/2015; 103(8). DOI:10.1002/bdra.23384 · 2.09 Impact Factor
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    ABSTRACT: Bronchopulmonary dysplasia (BPD) has a strong heritable component yet large-scale genome-wide association studies for common variants have not revealed its genetic basis. Given the historical high mortality rate of extremely preterm infants who now survive and develop BPD, we hypothesized that risk loci underlying this disease are under severe purifying selection during evolution and that rare variants may explain greater risk of the disease. We performed exome-sequencing on 50 BPD affected and unaffected twin pairs using DNA isolated from neonatal blood spots, and identified genes affected by extremely rare nonsynonymous mutations. Functional genomic approaches were then employed to systematically compare these affected genes between cases and controls. We identified 258 genes with rare nonsynonymous mutations in BPD patients. These genes were highly enriched for processes that are expected to be involved in pulmonary structure and function including collagen fibril organization, morphogenesis of embryonic epithelium and regulation of Wnt signaling pathway, displayed significantly elevated expression in fetal and adult lungs, and were substantially up-regulated in a murine model of BPD. Analyses of mouse mutants revealed their phenotypic enrichment for embryonic development and the cyanosis phenotype, a clinical manifestation of BPD. Our study supports the role of rare variants in BPD and is the first to sequence BPD exomes from newborn blood spot samples and identify with high confidence genes implicated in BPD thereby providing important insights into its biology and molecular etiology.
    American Journal of Respiratory and Critical Care Medicine 06/2015; 192(5). DOI:10.1164/rccm.201501-0168OC · 13.00 Impact Factor
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    ABSTRACT: Background The National Birth Defects Prevention Study (NBDPS) contains a wealth of information on affected and unaffected family triads, and thus provides numerous opportunities to study gene–environment interactions (G×E) in the etiology of birth defect outcomes. Depending on the research objective, several analytic options exist to estimate G×E effects that use varying combinations of individuals drawn from available triads.Methods In this study, we discuss important considerations in the collection of genetic data and environmental exposures.ResultsWe will also present several population- and family-based approaches that can be applied to data from the NBDPS including case–control, case-only, family-based trio, and maternal versus fetal effects. For each, we describe the data requirements, applicable statistical methods, advantages, and disadvantages.ConclusionA range of approaches can be used to evaluate potentially important G×E effects in the NBDPS. Investigators should be aware of the limitations inherent to each approach when choosing a study design and interpreting results. Birth Defects Research (Part A), 2015. © 2015 Wiley Periodicals, Inc.
    Birth Defects Research Part A Clinical and Molecular Teratology 05/2015; 103(8). DOI:10.1002/bdra.23382 · 2.09 Impact Factor

Publication Stats

11k Citations
1,483.41 Total Impact Points


  • 2015
    • Palo Alto University
      إاست بالو ألتو، سان ماتيو، كاليفورنيا, California, United States
  • 2009-2015
    • Stanford Medicine
      • • Division of Neonatal and Developmental Medicine
      • • Department of Pediatrics
      • • Pediatric Neurology Clinic
      Stanford, California, United States
    • Stanford University
      • • Department of Pediatrics
      • • Division of Neonatal and Developmental Medicine
      Palo Alto, California, United States
  • 2012
    • University of Texas at Austin
      • Division of Nutritional Sciences
      Austin, Texas, United States
  • 2005-2009
    • Children's Hospital Oakland Research Institute
      Oakland, California, United States
    • University of California, San Francisco
      • Department of Obstetrics, Gynecology and Reproductive Sciences
      San Francisco, California, United States
  • 1996-2009
    • University of California, Berkeley
      • School of Public Health
      Berkeley, California, United States
  • 1995-2009
    • Children's Hospital & Research Center Oakland
      Oakland, California, United States
  • 1990-2009
    • March of Dimes Foundation
      White Plains, New York, United States
  • 2008
    • Texas A&M University System Health Science Center
      • Institute of Biosciences and Technology
      Bryan, TX, United States
  • 2007
    • University of Arkansas at Little Rock
      Little Rock, Arkansas, United States
  • 2002-2006
    • University of California, Los Angeles
      • • Department of Epidemiology
      • • School of Public Health
      Los Angeles, CA, United States
  • 2004
    • University of Nebraska at Omaha
      Omaha, Nebraska, United States
  • 1999
    • Washington State Department of Health
      Olympia, Washington, United States
    • University of Oklahoma Health Sciences Center
      Oklahoma City, Oklahoma, United States
    • McGill University
      • Department of Human Genetics
      Montréal, Quebec, Canada
  • 1998
    • Texas A&M University
      College Station, Texas, United States
  • 1993
    • Battelle Memorial Institute
      Columbus, Ohio, United States
  • 1991
    • Berkeley Earth
      Washington, Washington, D.C., United States