0 Evaluaciones

ID

45216

Descripción

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

Palabras clave

  1. 31/7/22 31/7/22 - Chiara Middel
  2. 12/10/22 12/10/22 - Adrian Schulz
Titular de derechos de autor

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

Subido en

12 de octubre de 2022

DOI

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Licencia

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
    Descripción

    Inclusion and exclusion criteria

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

    Elig.phs000422.v1.p1.1

    Tipo de datos

    boolean

    Alias
    UMLS CUI [1,1]
    C0680251 (Exclusion Criteria)
    UMLS CUI [2,1]
    C0004096 (Asthma)
    SNOMED
    195967001
    LOINC
    MTHU020815
    UMLS CUI [2,2]
    C5236167 (Did Not Meet Eligibility Criteria)
    UMLS CUI [3,1]
    C0004096 (Asthma)
    SNOMED
    195967001
    LOINC
    MTHU020815
    UMLS CUI [3,2]
    C0011900 (Diagnosis)
    SNOMED
    439401001
    LOINC
    LP30831-9
    UMLS CUI [3,3]
    C0205394 (Other)
    SNOMED
    74964007
    LOINC
    LP21049-9
    UMLS CUI [3,4]
    C0035242 (Respiratory Tract Diseases)

    Similar models

    Eligibility Criteria

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