0 Avaliações

ID

45216

Descrição

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

Palavras-chave

  1. 31/07/2022 31/07/2022 - Chiara Middel
  2. 12/10/2022 12/10/2022 - Adrian Schulz
Titular dos direitos

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

Transferido a

12 octobre 2022

DOI

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Licença

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
    Descrição

    pht003223

    Subject ID
    Descrição

    SUBJID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Consent group as determined by DAC
    Descrição

    CONSENT

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0021430 (Informed Consent)
    Source repository where subjects originate
    Descrição

    SUBJ_SOURCE

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,2]
    C3847505 (Repository)
    LOINC
    LP182360-0
    Subject ID used in the Source Repository
    Descrição

    SOURCE_SUBJ_ID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    UMLS CUI [1,2]
    C0449416 (Source)
    SNOMED
    260753009
    LOINC
    LP21212-3
    UMLS CUI [1,3]
    C3847505 (Repository)
    LOINC
    LP182360-0
    Case control status of the subject
    Descrição

    AFFECTION_STATUS

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C3274646 (Participant Case or Control Status)

    Similar models

    Subject - Consent - Affection Status Information

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    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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