ID

45166

Descripción

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.

Link

dbGaP study = phs000332

Palabras clave

  1. 25/8/22 25/8/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

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

Subido en

12 de octubre de 2022

DOI

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Licencia

Creative Commons BY 4.0

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dbGaP phs000332 GWAS of Preterm Birth

The dataset provides medical background data related to the pregnancies of participating mothers (affection status: mothers who gave birth to a preterm [cases] or term [controls] infant): e.g. presence/absence of hypertension, diabetes, preeclampsia, number of previous pregnancies, type of delivery, presence/absence of placenta abruptio or, amount of amniotic fluid present; in addition, data about mother's lifestyle (smoking, alcohol and other drug consumption) and general socio-demographic data (age, educational level, ethnicity) are provided. General data about the infants are also included, e.g. gestational age, birthweight, and gender.

pht002338
Descripción

pht002338

De-identified Subject ID
Descripción

SUBJID

Tipo de datos

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Type of delivery
Descripción

DELTYPE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0565867
Clinical presentation before delivery
Descripción

CLINPRES

Tipo de datos

text

Alias
UMLS CUI [1,1]
C2708283
UMLS CUI [1,2]
C0332152
UMLS CUI [1,3]
C1148523
Preeclampsia during this pregnancy?
Descripción

PreEclam

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0032914
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Eclampsia during this pregnancy?
Descripción

ECLAMP

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0013537
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Chronic hypertension during this pregnancy?
Descripción

CHTN

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0745114
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Abruptio placenta during this pregnancy?
Descripción

Abruptio

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0000832
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Placenta previa during this pregnancy?
Descripción

PREVIA

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0032046
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Incompetent cervix during this pregnancy?
Descripción

INCOMP

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0007871
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Gestational or Mellitus diabetes during this pregnancy?
Descripción

DIABETES

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0011849
UMLS CUI [1,2]
C0085207
UMLS CUI [1,3]
C0347984
UMLS CUI [1,4]
C0032961
HELLP syndrome during this pregnancy?
Descripción

HELLP

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0162739
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Oligohydramnios during this pregnancy?
Descripción

OLIGO

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079924
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Polyhydramnios during this pregnancy?
Descripción

POLY

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0020224
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Meconium in amniotic fluid during this pregnancy?
Descripción

Mecon

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0426209
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Having any episodes of preterm contractions during this pregnancy?
Descripción

EPISODE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0332189
UMLS CUI [1,2]
C2114320
UMLS CUI [1,3]
C0347984
UMLS CUI [1,4]
C0032961
Number of previous pregnancies, including index pregnancy
Descripción

GRAVITY

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0422807
Number of previous deliveries, not including index pregnancy
Descripción

PARITY

Tipo de datos

text

Alias
UMLS CUI [1,1]
C2134007
Passive smoking (that is, live with one or more smokers)
Descripción

PSMOKE

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0037370
Alcohol consumption during this pregnancy
Descripción

ETOH

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0001948
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032961
Any history of illicit drug use
Descripción

DRUG

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0281875
UMLS CUI [1,2]
C0332119
Education level
Descripción

EDU

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0013658
Ethnicity
Descripción

race

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0015031
Marrital status
Descripción

MARRY

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0024819
Maternal age at delivery
Descripción

age

Tipo de datos

text

Unidades de medida
  • Years
Alias
UMLS CUI [1,1]
C0024915
UMLS CUI [1,2]
C0011008
UMLS CUI [1,3]
C1148523
Years
Pre-pregnancy BMI
Descripción

bmi

Tipo de datos

float

Unidades de medida
  • kg/m2
Alias
UMLS CUI [1,1]
C1305855
UMLS CUI [1,2]
C0332152
UMLS CUI [1,3]
C0032961
kg/m2
Ever smoked 3 months before pregnancy and/or during pregnancy
Descripción

EVER_SMK

Tipo de datos

text

Alias
UMLS CUI [1,1]
C3475470
UMLS CUI [1,2]
C1442461
UMLS CUI [1,3]
C0332152
UMLS CUI [1,4]
C0032961
UMLS CUI [2,1]
C3475470
UMLS CUI [2,2]
C0347984
UMLS CUI [2,3]
C0032961
Continued smoking during the 2nd and/or 3rd trimester?
Descripción

CONT_SMK

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0543414
UMLS CUI [1,2]
C0347984
UMLS CUI [1,3]
C0032980
UMLS CUI [1,4]
C0032981
Stopped smoking after 1st trimester?
Descripción

QUIT_SMK

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0806020
UMLS CUI [1,2]
C0543414
UMLS CUI [1,3]
C0032979
Gestational age
Descripción

GEAA

Tipo de datos

float

Unidades de medida
  • Weeks
Alias
UMLS CUI [1,1]
C0017504
Weeks
Birth weight
Descripción

BWT

Tipo de datos

text

Unidades de medida
  • g
Alias
UMLS CUI [1,1]
C0005612
g
Preterm or term birth?
Descripción

preterm

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0151526
UMLS CUI [1,2]
C0233324
Low birth weight
Descripción

LBW

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0205251
UMLS CUI [1,2]
C0005612
Baby's gender
Descripción

SEX

Tipo de datos

text

Alias
UMLS CUI [1,1]
C0079399

Similar models

The dataset provides medical background data related to the pregnancies of participating mothers (affection status: mothers who gave birth to a preterm [cases] or term [controls] infant): e.g. presence/absence of hypertension, diabetes, preeclampsia, number of previous pregnancies, type of delivery, presence/absence of placenta abruptio or, amount of amniotic fluid present; in addition, data about mother's lifestyle (smoking, alcohol and other drug consumption) and general socio-demographic data (age, educational level, ethnicity) are provided. General data about the infants are also included, e.g. gestational age, birthweight, and gender.

Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de datos
Alias
Item Group
pht002338
SUBJID
Item
De-identified Subject ID
string
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
Item
Type of delivery
text
C0565867 (UMLS CUI [1,1])
Code List
Type of delivery
CL Item
C-section (0)
CL Item
Vaginal (1)
CL Item
Missing (9)
Item
Clinical presentation before delivery
text
C2708283 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C1148523 (UMLS CUI [1,3])
Code List
Clinical presentation before delivery
CL Item
Uterine contraction (UC) as first sign of labor (1)
CL Item
Rupture of membranes (ROM) without UC, water broke noted by Mom (2)
CL Item
ROM without UC, Fern test positive (3)
CL Item
ROM without UC, water broke noted by mom and Fern test positive (4)
CL Item
Both UC and ROM (5)
CL Item
Medical Induction (6)
CL Item
Missing (9)
Item
Preeclampsia during this pregnancy?
text
C0032914 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Preeclampsia during this pregnancy?
CL Item
No (1)
CL Item
Mild (2)
CL Item
Severe (3)
CL Item
Missing (9)
Item
Eclampsia during this pregnancy?
text
C0013537 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Eclampsia during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Chronic hypertension during this pregnancy?
text
C0745114 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Chronic hypertension during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Abruptio placenta during this pregnancy?
text
C0000832 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Abruptio placenta during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Placenta previa during this pregnancy?
text
C0032046 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Placenta previa during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Incompetent cervix during this pregnancy?
text
C0007871 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Incompetent cervix during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Gestational or Mellitus diabetes during this pregnancy?
text
C0011849 (UMLS CUI [1,1])
C0085207 (UMLS CUI [1,2])
C0347984 (UMLS CUI [1,3])
C0032961 (UMLS CUI [1,4])
Code List
Gestational or Mellitus diabetes during this pregnancy?
CL Item
No (1)
CL Item
Gestational Diabetes (2)
CL Item
Mellitus Diabetes (3)
CL Item
Missing (9)
Item
HELLP syndrome during this pregnancy?
text
C0162739 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
HELLP syndrome during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Oligohydramnios during this pregnancy?
text
C0079924 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Oligohydramnios during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Polyhydramnios during this pregnancy?
text
C0020224 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Polyhydramnios during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Meconium in amniotic fluid during this pregnancy?
text
C0426209 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Meconium in amniotic fluid during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Having any episodes of preterm contractions during this pregnancy?
text
C0332189 (UMLS CUI [1,1])
C2114320 (UMLS CUI [1,2])
C0347984 (UMLS CUI [1,3])
C0032961 (UMLS CUI [1,4])
Code List
Having any episodes of preterm contractions during this pregnancy?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
GRAVITY
Item
Number of previous pregnancies, including index pregnancy
text
C0422807 (UMLS CUI [1,1])
PARITY
Item
Number of previous deliveries, not including index pregnancy
text
C2134007 (UMLS CUI [1,1])
Item
Passive smoking (that is, live with one or more smokers)
text
C0037370 (UMLS CUI [1,1])
Code List
Passive smoking (that is, live with one or more smokers)
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Alcohol consumption during this pregnancy
text
C0001948 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Code List
Alcohol consumption during this pregnancy
CL Item
No (0)
CL Item
Yes (including occasionally) (1)
CL Item
Missing (9)
Item
Any history of illicit drug use
text
C0281875 (UMLS CUI [1,1])
C0332119 (UMLS CUI [1,2])
Code List
Any history of illicit drug use
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Education level
text
C0013658 (UMLS CUI [1,1])
Code List
Education level
CL Item
Elementary school/illiterate (1)
CL Item
Secondary (2)
CL Item
High school/GED (3)
CL Item
Some college (4)
CL Item
College degree or above (5)
CL Item
Missing (9)
Item
Ethnicity
text
C0015031 (UMLS CUI [1,1])
Code List
Ethnicity
CL Item
African American (1)
CL Item
White (2)
CL Item
Haitian (5)
CL Item
Cape Verde (6)
Item
Marrital status
text
C0024819 (UMLS CUI [1,1])
Code List
Marrital status
CL Item
Married (1)
CL Item
Widowed (2)
CL Item
Divorced (3)
CL Item
Separated (4)
CL Item
Single (5)
CL Item
Missing (9)
age
Item
Maternal age at delivery
text
C0024915 (UMLS CUI [1,1])
C0011008 (UMLS CUI [1,2])
C1148523 (UMLS CUI [1,3])
bmi
Item
Pre-pregnancy BMI
float
C1305855 (UMLS CUI [1,1])
C0332152 (UMLS CUI [1,2])
C0032961 (UMLS CUI [1,3])
Item
Ever smoked 3 months before pregnancy and/or during pregnancy
text
C3475470 (UMLS CUI [1,1])
C1442461 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0032961 (UMLS CUI [1,4])
C3475470 (UMLS CUI [2,1])
C0347984 (UMLS CUI [2,2])
C0032961 (UMLS CUI [2,3])
Code List
Ever smoked 3 months before pregnancy and/or during pregnancy
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Continued smoking during the 2nd and/or 3rd trimester?
text
C0543414 (UMLS CUI [1,1])
C0347984 (UMLS CUI [1,2])
C0032980 (UMLS CUI [1,3])
C0032981 (UMLS CUI [1,4])
Code List
Continued smoking during the 2nd and/or 3rd trimester?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
Item
Stopped smoking after 1st trimester?
text
C0806020 (UMLS CUI [1,1])
C0543414 (UMLS CUI [1,2])
C0032979 (UMLS CUI [1,3])
Code List
Stopped smoking after 1st trimester?
CL Item
No (0)
CL Item
Yes (1)
CL Item
Missing (9)
GEAA
Item
Gestational age
float
C0017504 (UMLS CUI [1,1])
BWT
Item
Birth weight
text
C0005612 (UMLS CUI [1,1])
Item
Preterm or term birth?
text
C0151526 (UMLS CUI [1,1])
C0233324 (UMLS CUI [1,2])
Code List
Preterm or term birth?
CL Item
Term (0)
CL Item
Preterm (1)
Item
Low birth weight
text
C0205251 (UMLS CUI [1,1])
C0005612 (UMLS CUI [1,2])
Code List
Low birth weight
CL Item
Normal birth weight (0)
CL Item
Low birth weight (1)
Item
Baby's gender
text
C0079399 (UMLS CUI [1,1])
Code List
Baby's gender
CL Item
Girl (0)
CL Item
Boy (1)

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