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ID

45754

Descrição

Principal Investigator: Carole Ober, PhD, University of Chicago, Chicago, IL, USA MeSH: Asthma,Serum IgE https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001156 The EVE Asthma Genetics Consortium comprises U.S. investigators who have conducted genome-wide association studies (GWAS) of asthma; the main objective is to combine results of individual studies to increase the overall power to identify loci for asthma and asthma-associated traits. The consortium includes investigators at 9 U.S. institutions with GWAS results for 10,000 individuals representing European American, African American, African Caribbean, U.S. Hispanic, and Mexican populations and includes the following studies:- The Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE) - The Genetic Research on Asthma in the African Diaspora (GRAAD) Study - The Genetics of Asthma in Latino Americans (GALA 1) Study - The Childhood Asthma Management Program (CAMP) - The Childhood Asthma Research and Education (CARE) Network - The Children's Health Study (CHS) - Mexico City Childhood Asthma Study (MCCAS) - The Chicago Asthma Genetics Study (CAG)* liThe National Heart, Lung, and Blood Institute Collaborative Studies of the Genetics of Asthma (CSGA)*/li liThe Severe Asthma Research Program (SARP)*/li (*CAG, CSGA, and SARP are part of the NHLBI-supported SNP Typing for Association with Multiple Phenotypes from Existing Epidemiologic Data (STAMPEED) consortium.) For the GWAS, we developed a common set of 1 million genotyped and imputed SNPs from the EVE Asthma Genetics Consortium to be tested for association with asthma and associated phenotypes in all samples and combined p-values for a grand meta-analysis for asthma gene discovery. A subset of 296 individuals representing African American, European American, and Latino ancestry were selected for whole genome sequencing. The broad goals of this project were to characterize the genetic architecture of asthma and associated quantitative phenotypes (e.g., lung function, total serum IgE) in ethnically diverse populations from the U.S., Mexico, Puerto Rico, and Barbados.

Link

dbGaP-study=phs001156

Palavras-chave

  1. 05/06/2023 05/06/2023 - Chiara Middel
Titular dos direitos

Carole Ober, PhD, University of Chicago, Chicago, IL, USA

Transferido a

5 de junho de 2023

DOI

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Licença

Creative Commons BY 4.0

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    dbGaP phs001156 The EVE Asthma Genetics Consortium: Building Upon GWAS

    This subject phenotype data table includes subject's gender, race (n=2 variables), asthma status, age of asthma onset and diagnosis, allergy symptoms, skin test results for any aeroallergen, and food allergy diagnosis.

    pht007050
    Descrição

    pht007050

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Descrição

    SUBJID

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Corresponding Study
    Descrição

    Study_Designation

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0332281 (Associated with)
    SNOMED
    47429007
    UMLS CUI [1,2]
    C0008976 (Clinical Trials)
    SNOMED
    110465008
    LOINC
    LP231796-6
    Asthma Case?
    Descrição

    Asthma

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0004096 (Asthma)
    SNOMED
    195967001
    LOINC
    MTHU020815
    UMLS CUI [1,2]
    C1698493 (Case Subject)
    Gender
    Descrição

    Gender

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0079399 (Gender)
    SNOMED
    263495000
    LOINC
    LP61312-2
    Subject Ethnicity
    Descrição

    Race

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0015031 (Ethnic group)
    SNOMED
    398089004
    LOINC
    LP36231-6
    Subject Ethnicity (specify)
    Descrição

    Race_Specify

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0015031 (Ethnic group)
    SNOMED
    398089004
    LOINC
    LP36231-6
    UMLS CUI [1,2]
    C1521902 (To specify)
    Asthma symptom onset?
    Descrição

    AgeOnset

    Tipo de dados

    text

    Unidades de medida
    • years
    Alias
    UMLS CUI [1,1]
    C0004096 (Asthma)
    SNOMED
    195967001
    LOINC
    MTHU020815
    UMLS CUI [1,2]
    C1457887 (Symptoms)
    LOINC
    MTHU021540
    UMLS CUI [1,3]
    C0439659 (Beginning)
    SNOMED
    255395001
    LOINC
    LP21371-7
    years
    Doc diagnosed asthma
    Descrição

    AgeOnset_Doc_dx

    Tipo de dados

    text

    Unidades de medida
    • years
    Alias
    UMLS CUI [1,1]
    C0031831 (Physicians)
    SNOMED
    158965000
    LOINC
    LA18968-0
    UMLS CUI [1,2]
    C0011900 (Diagnosis)
    SNOMED
    439401001
    LOINC
    LP30831-9
    UMLS CUI [1,3]
    C0004096 (Asthma)
    SNOMED
    195967001
    LOINC
    MTHU020815
    Allergy symptoms?
    Descrição

    Allergies

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0020517 (Hypersensitivity)
    SNOMED
    421961002
    LOINC
    LP20697-6
    UMLS CUI [1,2]
    C1457887 (Symptoms)
    LOINC
    MTHU021540
    Skin test positive for any aeroallergen
    Descrição

    Spt_AnyAeroallergen

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0430561 (Skin prick test)
    SNOMED
    37968009
    UMLS CUI [1,2]
    C1446409 (Positive)
    SNOMED
    10828004
    UMLS CUI [1,3]
    C0001697 (Aeroallergen)
    SNOMED
    260871008
    Doc diagnosed allergy to foods?
    Descrição

    food_allergy_Doc_dx

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0031831 (Physicians)
    SNOMED
    158965000
    LOINC
    LA18968-0
    UMLS CUI [1,2]
    C0011900 (Diagnosis)
    SNOMED
    439401001
    LOINC
    LP30831-9
    UMLS CUI [1,3]
    C0016470 (Food Allergy)
    SNOMED
    414285001

    Similar models

    This subject phenotype data table includes subject's gender, race (n=2 variables), asthma status, age of asthma onset and diagnosis, allergy symptoms, skin test results for any aeroallergen, and food allergy diagnosis.

    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    pht007050
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    Subject ID
    text
    C2348585 (UMLS CUI [1,1])
    Study_Designation
    Item
    Corresponding Study
    text
    C0332281 (UMLS CUI [1,1])
    C0008976 (UMLS CUI [1,2])
    Item
    Asthma Case?
    text
    C0004096 (UMLS CUI [1,1])
    C1698493 (UMLS CUI [1,2])
    Code List
    Asthma Case?
    CL Item
    No (N)
    CL Item
    Yes (Y)
    Item
    Gender
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Gender
    CL Item
    Female (F)
    C0086287 (UMLS CUI [1,1])
    CL Item
    Male (M)
    C0086582 (UMLS CUI [1,1])
    Item
    Subject Ethnicity
    text
    C0015031 (UMLS CUI [1,1])
    Code List
    Subject Ethnicity
    CL Item
    European (non-Jewish) (1)
    CL Item
    European (Jewish) (2)
    CL Item
    Hispanic/Latino (3)
    CL Item
    Black or African American (4)
    CL Item
    American Indian or Alaskan Native (5)
    CL Item
    East/Southeast Asian (6)
    CL Item
    Asian Indian (7)
    CL Item
    Native Hawaiian (8)
    CL Item
    Other (9)
    CL Item
    Multiple Races (10)
    C0034510 (UMLS CUI [1,1])
    CL Item
    Uncertain (11)
    CL Item
    Refused (12)
    Race_Specify
    Item
    Subject Ethnicity (specify)
    text
    C0015031 (UMLS CUI [1,1])
    C1521902 (UMLS CUI [1,2])
    AgeOnset
    Item
    Asthma symptom onset?
    text
    C0004096 (UMLS CUI [1,1])
    C1457887 (UMLS CUI [1,2])
    C0439659 (UMLS CUI [1,3])
    Item
    Doc diagnosed asthma
    text
    C0031831 (UMLS CUI [1,1])
    C0011900 (UMLS CUI [1,2])
    C0004096 (UMLS CUI [1,3])
    Code List
    Doc diagnosed asthma
    CL Item
    Don't know (DK)
    CL Item
    No (N)
    CL Item
    Yes (Y)
    Item
    Allergy symptoms?
    text
    C0020517 (UMLS CUI [1,1])
    C1457887 (UMLS CUI [1,2])
    Code List
    Allergy symptoms?
    CL Item
    Don't know (DK)
    CL Item
    No (N)
    CL Item
    Yes (Y)
    Item
    Skin test positive for any aeroallergen
    text
    C0430561 (UMLS CUI [1,1])
    C1446409 (UMLS CUI [1,2])
    C0001697 (UMLS CUI [1,3])
    Code List
    Skin test positive for any aeroallergen
    CL Item
    Don't know (DK)
    CL Item
    No (N)
    CL Item
    Yes (Y)
    Item
    Doc diagnosed allergy to foods?
    text
    C0031831 (UMLS CUI [1,1])
    C0011900 (UMLS CUI [1,2])
    C0016470 (UMLS CUI [1,3])
    Code List
    Doc diagnosed allergy to foods?
    CL Item
    Don't know (DK)
    CL Item
    No (N)
    CL Item
    Yes (Y)

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