0 Avaliações

ID

45759

Descrição

Principal Investigator: Kathleen Barnes, PhD, University of Colorado, Denver, CO, USA MeSH: Asthma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001143 Asthma is a complex disease where the interplay between genetic factors and environmental exposures influences susceptibility and disease prognosis. Asthmatics of African descent tend to have more severe asthma and more severe clinical symptoms than individuals of European ancestry. The baseline prevalence of asthma in Barbados is high (~20%), and from admixture analyses, we have determined that the proportion of African ancestry among Barbadian founders is similar to U.S. African Americans, rendering this a unique population to disentangle the genetic basis for asthma disparities among African ancestry populations in general. We therefore performed whole genome sequencing on 1,100 individuals from the Barbados Genetics of Asthma Study (BAGS), in order to generate additional discovery of rare and structural variants that may control risk to asthma.

Link

dbGaP-study=phs001143

Palavras-chave

  1. 14/06/2023 14/06/2023 - Chiara Middel
Titular dos direitos

Kathleen Barnes, PhD, University of Colorado, Denver, CO, USA

Transferido a

14 de junho de 2023

DOI

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Licença

Creative Commons BY 4.0

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    dbGaP phs001143 NHLBI TOPMed: The Genetics and Epidemiology of Asthma in Barbados

    Eligibility Criteria

    Inclusion and exclusion criteria
    Descrição

    Inclusion and exclusion criteria

    Alias
    UMLS CUI [1,1]
    C1512693
    UMLS CUI [1,2]
    C0680251
    Subjects were prioritized for sequencing based on family membership, and subjects having blood samples with sufficient quantity and quality of DNA. 1100 individuals from 190 Barbados families were whole genome sequenced (asthma cases and controls). Among all cases, asthma was defined as both a reported history of asthma and a documented history of physician-diagnosed asthma (past or current). For each of the asthma studies, a standardized questionnaire based on either American Thoracic Society or International Study of Asthma and Allergy in Childhood questionnaires was administered by a clinical coordinator. The identity and relationships of individuals were checked using IBD estimates, and individuals were excluded if discrepant. Samples that failed whole genome sequencing quality control were also excluded.
    Descrição

    Elig.phs001143.v4.p1.1

    Tipo de dados

    boolean

    Alias
    UMLS CUI [1,1]
    C0549179
    UMLS CUI [1,2]
    C1561491
    UMLS CUI [1,3]
    C0015576
    UMLS CUI [1,4]
    C0680038
    UMLS CUI [1,5]
    C0470187
    UMLS CUI [1,6]
    C0178913
    UMLS CUI [1,7]
    C0205410
    UMLS CUI [1,8]
    C1265611
    UMLS CUI [1,9]
    C0332306
    UMLS CUI [1,10]
    C0012854
    UMLS CUI [2,1]
    C1707391
    UMLS CUI [2,2]
    C1265611
    UMLS CUI [2,3]
    C0237401
    UMLS CUI [2,4]
    C0004739
    UMLS CUI [2,5]
    C0015576
    UMLS CUI [2,6]
    C3640076
    UMLS CUI [3,1]
    C1704788
    UMLS CUI [3,2]
    C0004096
    UMLS CUI [3,3]
    C4319718
    UMLS CUI [3,4]
    C1301725
    UMLS CUI [3,5]
    C0262926
    UMLS CUI [3,6]
    C0004096
    UMLS CUI [4,1]
    C1255664
    UMLS CUI [4,2]
    C0034394
    UMLS CUI [4,3]
    C0037455
    UMLS CUI [4,4]
    C3846158
    UMLS CUI [4,5]
    C1533734
    UMLS CUI [4,6]
    C4721857
    UMLS CUI [5,1]
    C4321547
    UMLS CUI [5,2]
    C0600091
    UMLS CUI [5,3]
    C1552027
    UMLS CUI [5,4]
    C3846158
    UMLS CUI [5,5]
    C1290905
    UMLS CUI [5,6]
    C0680251
    UMLS CUI [6,1]
    C0680251
    UMLS CUI [6,2]
    C2347026
    UMLS CUI [6,3]
    C3640076
    UMLS CUI [6,4]
    C0231175
    UMLS CUI [6,5]
    C0034378

    Similar models

    Eligibility Criteria

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    Inclusion and exclusion criteria
    C1512693 (UMLS CUI [1,1])
    C0680251 (UMLS CUI [1,2])
    Elig.phs001143.v4.p1.1
    Item
    Subjects were prioritized for sequencing based on family membership, and subjects having blood samples with sufficient quantity and quality of DNA. 1100 individuals from 190 Barbados families were whole genome sequenced (asthma cases and controls). Among all cases, asthma was defined as both a reported history of asthma and a documented history of physician-diagnosed asthma (past or current). For each of the asthma studies, a standardized questionnaire based on either American Thoracic Society or International Study of Asthma and Allergy in Childhood questionnaires was administered by a clinical coordinator. The identity and relationships of individuals were checked using IBD estimates, and individuals were excluded if discrepant. Samples that failed whole genome sequencing quality control were also excluded.
    boolean
    C0549179 (UMLS CUI [1,1])
    C1561491 (UMLS CUI [1,2])
    C0015576 (UMLS CUI [1,3])
    C0680038 (UMLS CUI [1,4])
    C0470187 (UMLS CUI [1,5])
    C0178913 (UMLS CUI [1,6])
    C0205410 (UMLS CUI [1,7])
    C1265611 (UMLS CUI [1,8])
    C0332306 (UMLS CUI [1,9])
    C0012854 (UMLS CUI [1,10])
    C1707391 (UMLS CUI [2,1])
    C1265611 (UMLS CUI [2,2])
    C0237401 (UMLS CUI [2,3])
    C0004739 (UMLS CUI [2,4])
    C0015576 (UMLS CUI [2,5])
    C3640076 (UMLS CUI [2,6])
    C1704788 (UMLS CUI [3,1])
    C0004096 (UMLS CUI [3,2])
    C4319718 (UMLS CUI [3,3])
    C1301725 (UMLS CUI [3,4])
    C0262926 (UMLS CUI [3,5])
    C0004096 (UMLS CUI [3,6])
    C1255664 (UMLS CUI [4,1])
    C0034394 (UMLS CUI [4,2])
    C0037455 (UMLS CUI [4,3])
    C3846158 (UMLS CUI [4,4])
    C1533734 (UMLS CUI [4,5])
    C4721857 (UMLS CUI [4,6])
    C4321547 (UMLS CUI [5,1])
    C0600091 (UMLS CUI [5,2])
    C1552027 (UMLS CUI [5,3])
    C3846158 (UMLS CUI [5,4])
    C1290905 (UMLS CUI [5,5])
    C0680251 (UMLS CUI [5,6])
    C0680251 (UMLS CUI [6,1])
    C2347026 (UMLS CUI [6,2])
    C3640076 (UMLS CUI [6,3])
    C0231175 (UMLS CUI [6,4])
    C0034378 (UMLS CUI [6,5])

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