ID

45166

Descrizione

Principal Investigator: Xiaobin Wang, MD, MPH, ScD, Zanvyl Krieger Professor, Director, Center on the Early Life Origins of Disease, Department of Population, Family and Reproductive Health, Johns Hopkins University Bloomberg School of Public Health, and Professor of Pediatrics, John Hopkins University School of Medicine, Baltimore, MD, USA MeSH: Infant, Premature,Premature Birth,Gestational Age https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000332 Preterm birth (PTB, born before 37 weeks of gestation) is a leading cause of neonatal mortality and post-natal morbidity. PTB affects one in nine all live births in the U.S. Notably, the highest rate of PTB occurs among African Americans (one in six). PTB is a complex trait, likely determined by multiple environmental and genetic factors and their interactions. We demonstrated strong familial aggregation of preterm and low birthweight in the US Blacks and Whites (Wang et al, NEJM, 1995) and conducted the largest candidate gene study of preterm birth at that time (Hao et al, HMG, 2004). We showed that a subset of mothers with certain metabolic gene variants are particularly vulnerable to the adverse effects of cigarette smoking on low birthweight and preterm births (Wang et al, JAMA, 2002). We also published a number of papers that examined the effect of maternal pre-pregnancy BMI, micronutrient status, stress and environmental toxins on the risk of preterm birth and related conditions. This project, supported by a grant from the NICHD (2R01HD41702, PI, Xiaobin Wang), aimed to conduct a genome-wide association study (GWAS) and apply advanced statistical methods to identify susceptibility loci of PTB in a predominantly urban low-income African American sample, a subset of the Boston Birth Cohort. PUBLIC HEALTH REVELANCE: We anticipate that this study will lead to the identification of novel genetic loci of PTB and gene-environment interactions. Such findings not only will provide important insights into mechanisms leading to PTB, but also may help identify women at high-risk of PTB, which in turn, may lead to the development of early and targeted interventions that can prevent PTB or mitigate the severity and consequences of PTB.

collegamento

dbGaP study = phs000332

Keywords

  1. 25/08/22 25/08/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titolare del copyright

Xiaobin Wang, MD, MPH, ScD, Zanvyl Krieger Professor, Director, Center on the Early Life Origins of Disease, Department of Population, Family and Reproductive Health, Johns Hopkins University Bloomberg School of Public Health, and Professor of Pediatrics, John Hopkins University School of Medicine, Baltimore, MD, USA

Caricato su

12 ottobre 2022

DOI

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Licenza

Creative Commons BY 4.0

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dbGaP phs000332 GWAS of Preterm Birth

Eligibility Criteria

Inclusion and exclusion criteria
Descrizione

Inclusion and exclusion criteria

*Criteria for cases*
Descrizione

Elig.phs000332.v3.p2.1

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0243161
UMLS CUI [1,2]
C3274646
*A. Inclusion:* All mothers who delivered preterm babies (<37 weeks of gestation, regardless of birthweight) at Boston Medical Center (BMC) were eligible as cases for the study.
Descrizione

Elig.phs000332.v3.p2.2

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0026591
UMLS CUI [1,3]
C0151526
*B. Exclusion:* We excluded pregnancies as a result of *in vitro* fertilization or multiple gestation, and fetuses with chromosomal abnormalities or major birth defects. Additional exclusion criteria include mothers with congenital or acquired uterus lesions or with a known history of incompetent cervix, and preterm births due to maternal trauma (e.g., car accident).
Descrizione

Elig.phs000332.v3.p2.3

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0015915
UMLS CUI [1,3]
C0032989
UMLS CUI [1,4]
C0008625
UMLS CUI [1,5]
C1546948
UMLS CUI [2,1]
C0680251
UMLS CUI [2,2]
C0000768
UMLS CUI [2,3]
C0439661
UMLS CUI [2,4]
C0567079
UMLS CUI [2,5]
C0262926
UMLS CUI [2,6]
C0007871
UMLS CUI [2,7]
C0151526
UMLS CUI [2,8]
C1403626
*Criteria for controls*
Descrizione

Elig.phs000332.v3.p2.4

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C3274646
UMLS CUI [1,2]
C0243161
Those mothers who delivered term (>37 weeks of gestation) babies at BMC and frequency matched with case mothers on race, age (± 5 years), baby's gender and parity were eligible as controls for this GWAS.
Descrizione

Elig.phs000332.v3.p2.5

Tipo di dati

boolean

Alias
UMLS CUI [1,1]
C0026591
UMLS CUI [1,2]
C0232991
UMLS CUI [2,1]
C1708943
UMLS CUI [2,2]
C0001779
UMLS CUI [2,3]
C0034510
UMLS CUI [2,4]
C0021270
UMLS CUI [2,5]
C0079399
UMLS CUI [2,6]
C0030563

Similar models

Eligibility Criteria

Name
genere
Description | Question | Decode (Coded Value)
Tipo di dati
Alias
Item Group
Inclusion and exclusion criteria
Elig.phs000332.v3.p2.1
Item
*Criteria for cases*
boolean
C0243161 (UMLS CUI [1,1])
C3274646 (UMLS CUI [1,2])
Elig.phs000332.v3.p2.2
Item
*A. Inclusion:* All mothers who delivered preterm babies (<37 weeks of gestation, regardless of birthweight) at Boston Medical Center (BMC) were eligible as cases for the study.
boolean
C1512693 (UMLS CUI [1,1])
C0026591 (UMLS CUI [1,2])
C0151526 (UMLS CUI [1,3])
Elig.phs000332.v3.p2.3
Item
*B. Exclusion:* We excluded pregnancies as a result of *in vitro* fertilization or multiple gestation, and fetuses with chromosomal abnormalities or major birth defects. Additional exclusion criteria include mothers with congenital or acquired uterus lesions or with a known history of incompetent cervix, and preterm births due to maternal trauma (e.g., car accident).
boolean
C0680251 (UMLS CUI [1,1])
C0015915 (UMLS CUI [1,2])
C0032989 (UMLS CUI [1,3])
C0008625 (UMLS CUI [1,4])
C1546948 (UMLS CUI [1,5])
C0680251 (UMLS CUI [2,1])
C0000768 (UMLS CUI [2,2])
C0439661 (UMLS CUI [2,3])
C0567079 (UMLS CUI [2,4])
C0262926 (UMLS CUI [2,5])
C0007871 (UMLS CUI [2,6])
C0151526 (UMLS CUI [2,7])
C1403626 (UMLS CUI [2,8])
Elig.phs000332.v3.p2.4
Item
*Criteria for controls*
boolean
C3274646 (UMLS CUI [1,1])
C0243161 (UMLS CUI [1,2])
Elig.phs000332.v3.p2.5
Item
Those mothers who delivered term (>37 weeks of gestation) babies at BMC and frequency matched with case mothers on race, age (± 5 years), baby's gender and parity were eligible as controls for this GWAS.
boolean
C0026591 (UMLS CUI [1,1])
C0232991 (UMLS CUI [1,2])
C1708943 (UMLS CUI [2,1])
C0001779 (UMLS CUI [2,2])
C0034510 (UMLS CUI [2,3])
C0021270 (UMLS CUI [2,4])
C0079399 (UMLS CUI [2,5])
C0030563 (UMLS CUI [2,6])

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