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ID

45044

Beschreibung

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

https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000422

Stichworte

  1. 31.07.22 31.07.22 - Chiara Middel
  2. 12.10.22 12.10.22 - Adrian Schulz
Rechteinhaber

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

Hochgeladen am

31. Juli 2022

DOI

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Lizenz

Creative Commons BY 4.0

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

    Eligibility Criteria

    Inclusion and exclusion criteria
    Beschreibung

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    Cases with asthma were excluded if they did not meet inclusion criteria or had a diagnosis of a respiratory disease besides asthma.
    Beschreibung

    Elig.phs000422.v1.p1.1

    Datentyp

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251
    UMLS CUI [2,1]
    C0004096
    UMLS CUI [2,2]
    C5236167
    UMLS CUI [3,1]
    C0004096
    UMLS CUI [3,2]
    C0011900
    UMLS CUI [3,3]
    C0205394
    UMLS CUI [3,4]
    C0035242

    Ähnliche Modelle

    Eligibility Criteria

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs000422.v1.p1.1
    Item
    Cases with asthma were excluded if they did not meet inclusion criteria or had a diagnosis of a respiratory disease besides asthma.
    boolean
    C0680251 (UMLS CUI [1,1])
    C0004096 (UMLS CUI [2,1])
    C5236167 (UMLS CUI [2,2])
    C0004096 (UMLS CUI [3,1])
    C0011900 (UMLS CUI [3,2])
    C0205394 (UMLS CUI [3,3])
    C0035242 (UMLS CUI [3,4])

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