ID

45216

Description

Principal Investigator: Deborah A. Meyers, PhD, Wake Forest School of Medicine, Winston-Salem, NC, USA MeSH: Asthma,Respiratory Function Tests https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000422 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. The exome sequencing asthma project includes 200 African-Americans with asthma from the NHLBI multicenter Severe Asthma Research Program (SARP). SARP participants were recruited at the NHLBI SARP sites with an emphasis on recruiting severe asthmatics (Moore et al., Am J Respir Crit Care Med, 2010. PMID: 19892860). Asthma status was based on both a physician's diagnosis and either bronchodilator reversibility or hyper-responsiveness to methacholine as well as less than 5 pack years of smoking. All subjects were carefully characterized using the standardized SARP protocol which included spirometry (medication withheld), maximum bronchodilator reversibility, hyper-responsiveness to methacholine (not performed in subjects with low baseline FEV1), skin-tests to common allergens, questionnaires on health care utilization and medication use and sputum, lung imaging and bronchoscopy in a subset. In addition GWAS data are available (phs000355, Illumina platform).

Link

dbGaP study = phs000422

Keywords

Versions (2)
  1. 7/31/22 7/31/22 - Chiara Middel
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Deborah A. Meyers, PhD, Wake Forest School of Medicine, Winston-Salem, NC, USA

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000422 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Asthma)

English

The dataset contains phenotype data, including BMI, height/weight, white blood cell counts (lymphocytes, monocytes, neutrophils),and general demographic information.

5 forms  
pht003225
Description

pht003225

GO Sub-study (LUNGGO)
Description

STUDY

Data type

string

Alias
UMLS CUI [1,1]
C0947630
De-identified Subject ID
Description

SUBJID

Data type

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C4684638
Study Cohort (SARP)
Description

ESP_COHORT

Data type

string

Alias
UMLS CUI [1,1]
C0599755
Main phenotype studied (ASTHMA)
Description

ESP_PHENOTYPE

Data type

string

Alias
UMLS CUI [1,1]
C1542147
UMLS CUI [1,2]
C0031437
Race of participant
Description

ESP_RACE

Data type

string

Alias
UMLS CUI [1,1]
C0034510
Gender of participant
Description

ESP_SEX

Data type

string

Alias
UMLS CUI [1,1]
C0079399
Age of participant at baseline
Description

ESP_AGE_BASELINE

Data type

float

Measurement units
  • Years
Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C1442488
Years
Body mass index of participant at baseline
Description

ESP_BMI_BASELINE

Data type

float

Measurement units
  • kg/(m)^2
Alias
UMLS CUI [1,1]
C1305855
UMLS CUI [1,2]
C1442488
kg/(m)^2
Current smoker at baseline
Description

ESP_CURRENT_SMOKER_BASELINE

Data type

text

Alias
UMLS CUI [1,1]
C1519386
UMLS CUI [1,2]
C1442488
Neutrophil count/total white blood cell count
Description

ESP_NEUTROPHILS

Data type

float

Alias
UMLS CUI [1,1]
C0200633
UMLS CUI [1,2]
C0023508
Monocyte count/total white blood cell count
Description

ESP_MONOCYTES

Data type

float

Alias
UMLS CUI [1,1]
C0200637
UMLS CUI [1,2]
C0023508
Lymphocyte count/total white blood cell count
Description

ESP_LYMPHOCYTES

Data type

float

Alias
UMLS CUI [1,1]
C0200635
UMLS CUI [1,2]
C0023508
Asthma status of participant at baseline
Description

ESP_ASTHMA_STATUS_BASELINE

Data type

text

Alias
UMLS CUI [1,1]
C0004096
UMLS CUI [1,2]
C0449438
UMLS CUI [1,3]
C1442488
Height of participant at baseline
Description

ESP_HEIGHT

Data type

float

Measurement units
  • cm
Alias
UMLS CUI [1,1]
C0005890
UMLS CUI [1,2]
C1442488
cm
Weight of participant at baseline
Description

ESP_WEIGHT

Data type

float

Measurement units
  • kg
Alias
UMLS CUI [1,1]
C0005910
kg
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Similar models

The dataset contains phenotype data, including BMI, height/weight, white blood cell counts (lymphocytes, monocytes, neutrophils),and general demographic information.

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
pht003225
STUDY
Item
GO Sub-study (LUNGGO)
string
C0947630 (UMLS CUI [1,1])
SUBJID
Item
De-identified Subject ID
string
C2348585 (UMLS CUI [1,1])
C4684638 (UMLS CUI [1,2])
ESP_COHORT
Item
Study Cohort (SARP)
string
C0599755 (UMLS CUI [1,1])
ESP_PHENOTYPE
Item
Main phenotype studied (ASTHMA)
string
C1542147 (UMLS CUI [1,1])
C0031437 (UMLS CUI [1,2])
ESP_RACE
Item
Race of participant
string
C0034510 (UMLS CUI [1,1])
ESP_SEX
Item
Gender of participant
string
C0079399 (UMLS CUI [1,1])
ESP_AGE_BASELINE
Item
Age of participant at baseline
float
C0001779 (UMLS CUI [1,1])
C1442488 (UMLS CUI [1,2])
ESP_BMI_BASELINE
Item
Body mass index of participant at baseline
float
C1305855 (UMLS CUI [1,1])
C1442488 (UMLS CUI [1,2])
Item
Current smoker at baseline
text
C1519386 (UMLS CUI [1,1])
C1442488 (UMLS CUI [1,2])
ESP_CURRENT_SMOKER_BASELINE
Code List
Current smoker at baseline
CL Item
Non-smoker (0)
C0337672 (UMLS CUI [1,1])
CL Item
Smoker (1)
C3241966 (UMLS CUI [1,1])
ESP_NEUTROPHILS
Item
Neutrophil count/total white blood cell count
float
C0200633 (UMLS CUI [1,1])
C0023508 (UMLS CUI [1,2])
ESP_MONOCYTES
Item
Monocyte count/total white blood cell count
float
C0200637 (UMLS CUI [1,1])
C0023508 (UMLS CUI [1,2])
ESP_LYMPHOCYTES
Item
Lymphocyte count/total white blood cell count
float
C0200635 (UMLS CUI [1,1])
C0023508 (UMLS CUI [1,2])
Item
Asthma status of participant at baseline
text
C0004096 (UMLS CUI [1,1])
C0449438 (UMLS CUI [1,2])
C1442488 (UMLS CUI [1,3])
ESP_ASTHMA_STATUS_BASELINE
Code List
Asthma status of participant at baseline
CL Item
Non-asthmatic (0)
C1298908 (UMLS CUI [1,1])
C0004096 (UMLS CUI [1,2])
CL Item
Asthmatic (1)
C0004096 (UMLS CUI [1,1])
ESP_HEIGHT
Item
Height of participant at baseline
float
C0005890 (UMLS CUI [1,1])
C1442488 (UMLS CUI [1,2])
ESP_WEIGHT
Item
Weight of participant at baseline
float
C0005910 (UMLS CUI [1,1])
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