ID

45216

Beschrijving

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

Trefwoorden

  1. 31-07-22 31-07-22 - Chiara Middel
  2. 12-10-22 12-10-22 - Adrian Schulz
Houder van rechten

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

Geüploaded op

12 oktober 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000422 NHLBI GO-ESP: Lung Cohorts Exome Sequencing Project (Asthma)

Subject - Consent - Affection Status Information

pht003223
Beschrijving

pht003223

Subject ID
Beschrijving

SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beschrijving

CONSENT

Datatype

text

Alias
UMLS CUI [1,1]
C0021430
Source repository where subjects originate
Beschrijving

SUBJ_SOURCE

Datatype

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Subject ID used in the Source Repository
Beschrijving

SOURCE_SUBJ_ID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C0449416
UMLS CUI [1,3]
C3847505
Case control status of the subject
Beschrijving

AFFECTION_STATUS

Datatype

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject - Consent - Affection Status Information

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht003223
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
Code List
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
SUBJ_SOURCE
Item
Source repository where subjects originate
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SUBJ_ID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C0449416 (UMLS CUI [1,2])
C3847505 (UMLS CUI [1,3])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
C0009932 (UMLS CUI [1,1])
CL Item
Case (2)
C1698493 (UMLS CUI [1,1])
CL Item
Other (3)
C0205394 (UMLS CUI [1,1])

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