0 Bedömningar

ID

45759

Beskrivning

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.

Länk

dbGaP-study=phs001143

Nyckelord

  1. 2023-06-14 2023-06-14 - Chiara Middel
Rättsinnehavare

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

Uppladdad den

14 juni 2023

DOI

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Licens

Creative Commons BY 4.0

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

    This subject phenotype table includes age, sex, and affection status for asthma. Additional variables have been added: smoking status (n=9 variables; includes mother and father smoking status), asthma age of onset, allergic rhinitis, weight, height, IgE measurements (n=3 variables), phadiatop measurements, spirometry measurements (n=3 variables), bronchodilator pills/inhalers/nebulizer (n=6 variables), steroid pills/inhalers (n=4 variables), and cromolyn inhalers (n=2 variables).

    pht005905
    Beskrivning

    pht005905

    Alias
    UMLS CUI [1,1]
    C3846158
    De-identified Subject ID
    Beskrivning

    SUBJECT_ID

    Datatyp

    string

    Alias
    UMLS CUI [1,1]
    C4684638
    UMLS CUI [1,2]
    C2348585
    Subject age at health questionnaire administration and lung function measurement
    Beskrivning

    AGE

    Datatyp

    text

    Måttenheter
    • years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C0011008
    UMLS CUI [1,3]
    C0205197
    UMLS CUI [1,4]
    C0018759
    UMLS CUI [1,5]
    C0034394
    UMLS CUI [1,6]
    C0024119
    Sex of participant
    Beskrivning

    SEX

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Case control status of the subject for asthma
    Beskrivning

    AFFECTION_STATUS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C3274646
    UMLS CUI [1,2]
    C0004096
    Batch in which total serum IgE and phadiatop measurements were run
    Beskrivning

    IGE_BATCH

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C3641829
    UMLS CUI [1,2]
    C2229760
    UMLS CUI [1,3]
    C1441070
    UMLS CUI [1,4]
    C0242485
    Age of subject when sample used for total serum IgE measurement was collected
    Beskrivning

    AGE_IGE

    Datatyp

    text

    Måttenheter
    • years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C0011008
    UMLS CUI [1,3]
    C0200345
    UMLS CUI [1,4]
    C2229760
    Phadiatop measurements in PAU/L
    Beskrivning

    RAW_PHADIATOP_PAU_L

    Datatyp

    float

    Måttenheter
    • PAU/l
    Alias
    UMLS CUI [1,1]
    C1441070
    UMLS CUI [1,2]
    C0242485
    UMLS CUI [1,3]
    C3846158
    PAU/l
    Age of asthma onset
    Beskrivning

    AGE_ONSET_ASTHMA

    Datatyp

    text

    Måttenheter
    • years
    Alias
    UMLS CUI [1,1]
    C0206132
    UMLS CUI [1,2]
    C0004096
    Self-reported allergic rhinitis based on health questionnaire
    Beskrivning

    ALLERGIC_RHINITIS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C2607914
    UMLS CUI [1,2]
    C2700446
    UMLS CUI [1,3]
    C0018759
    UMLS CUI [1,4]
    C0034394
    Bronchodilator pills, capsules, or liquids (current use according to health questionnaire)
    Beskrivning

    BRONCHODILATOR_PILLS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0006280
    UMLS CUI [1,2]
    C1533734
    UMLS CUI [1,3]
    C0006935
    UMLS CUI [1,4]
    C0994475
    UMLS CUI [1,5]
    C0302908
    Relief from bronchodilator pills, capsules, or liquids
    Beskrivning

    BRONCHODILATOR_PILLS_RELIEF

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0564405
    UMLS CUI [1,2]
    C0006280
    UMLS CUI [1,3]
    C0994475
    UMLS CUI [1,4]
    C0006935
    UMLS CUI [1,5]
    C0302908
    Steroid/prednisone pills (current use according to health questionnaire)
    Beskrivning

    STEROID_PILLS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0038317
    UMLS CUI [1,2]
    C0032952
    UMLS CUI [1,3]
    C0994475
    Relief from steroid/prednisone pills
    Beskrivning

    STEROID_PILLS_RELIEF

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0564405
    UMLS CUI [1,2]
    C0038317
    UMLS CUI [1,3]
    C0032952
    UMLS CUI [1,4]
    C0994475
    Bronchodilator inhalers (current use according to health questionnaire)
    Beskrivning

    BRONCHODILATOR_INHALERS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0006280
    UMLS CUI [1,2]
    C0021461
    Relief from bronchodilator inhalers
    Beskrivning

    BRONCHODILATOR_INHALERS_RELIEF

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0564405
    UMLS CUI [1,2]
    C0006280
    UMLS CUI [1,3]
    C0021461
    Steroid inhalers (current use according to health questionnaire)
    Beskrivning

    STEROID_INHALERS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0038317
    UMLS CUI [1,2]
    C0021461
    Relief from steroid inhalers
    Beskrivning

    STEROID_INHALERS_RELIEF

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0564405
    UMLS CUI [1,2]
    C0038317
    UMLS CUI [1,3]
    C0021461
    Cromolyn inhalers (current use according to health questionnaire)
    Beskrivning

    CROMOLYN_INHALERS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0086073
    UMLS CUI [1,2]
    C0021461
    Relief from cromolyn inhalers
    Beskrivning

    CROMOLYN_INHALERS_RELIEF

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0564405
    UMLS CUI [1,2]
    C0086073
    UMLS CUI [1,3]
    C0021461
    Bronchodilator by nebulizer (current use according to health questionnaire)
    Beskrivning

    BRONCHODILATOR_NEBULIZER

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0006280
    UMLS CUI [1,2]
    C0027524
    Relief from bronchodilator by nebulizer
    Beskrivning

    BRONCHODILATOR_NEBULIZER_RELIEF

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0564405
    UMLS CUI [1,2]
    C0006280
    UMLS CUI [1,3]
    C0027524
    FEV1 = Forced Expiratory Volume 1 (pre-bronchodilator)
    Beskrivning

    FEV1_PREBD

    Datatyp

    float

    Måttenheter
    • liters/second
    Alias
    UMLS CUI [1,1]
    C0748133
    UMLS CUI [1,2]
    C2599602
    liters/second
    FVC = Forced Vital Capacity (pre-bronchodilator)
    Beskrivning

    FVC_PREBD

    Datatyp

    float

    Måttenheter
    • liters
    Alias
    UMLS CUI [1,1]
    C1287681
    UMLS CUI [1,2]
    C2599602
    liters
    FEV1/FVC (pre-bronchodilator)
    Beskrivning

    FEV1_FVC

    Datatyp

    float

    Alias
    UMLS CUI [1,1]
    C3815113
    UMLS CUI [1,2]
    C2599602
    Answer to "Have you ever smoked cigarettes?"
    Beskrivning

    EVER_SMOKED_CIGARETTES

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C3475470
    Answer to "At what age did you start smoking?"
    Beskrivning

    AGE_START_SMOKING

    Datatyp

    text

    Måttenheter
    • years
    Alias
    UMLS CUI [1,1]
    C3260575
    Answer to "Are you smoking now?"
    Beskrivning

    CURRENT_SMOKING

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0521116
    UMLS CUI [1,2]
    C0700219
    Answer to "At what age did you stop smoking?"
    Beskrivning

    AGE_STOPPED_SMOKING

    Datatyp

    text

    Måttenheter
    • years
    Alias
    UMLS CUI [1,1]
    C0001779
    UMLS CUI [1,2]
    C0425310
    Answer to "On average, during the years that you have smoked, how many cigarettes did you smoke daily?"
    Beskrivning

    DAILY_NR_CIGARETTES

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C1510992
    UMLS CUI [1,2]
    C3694146
    Answer to "Have you ever smoked cigars?"
    Beskrivning

    EVER_SMOKED_CIGARS

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C1519384
    UMLS CUI [1,2]
    C0678446
    Answer to "Have you ever smoked a pipe?"
    Beskrivning

    EVER_SMOKED_PIPE

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C1519384
    UMLS CUI [1,2]
    C0240766
    Answer to "Did your mother smoke when you were a baby?"
    Beskrivning

    MOTHER_SMOKED

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0026591
    UMLS CUI [1,2]
    C0700219
    UMLS CUI [1,3]
    C0231335
    Answer to "Did your father smoke when you were a baby?"
    Beskrivning

    FATHER_SMOKED

    Datatyp

    text

    Alias
    UMLS CUI [1,1]
    C0015671
    UMLS CUI [1,2]
    C0700219
    UMLS CUI [1,3]
    C0231335
    Log10 (Total serum IgE in ng/ml)
    Beskrivning

    LOG10_IGE_NG_ML

    Datatyp

    float

    Måttenheter
    • ng/ml
    Alias
    UMLS CUI [1,1]
    C2229760
    ng/ml
    Subject weight in kg
    Beskrivning

    WEIGHT_KG

    Datatyp

    float

    Måttenheter
    • kg
    Alias
    UMLS CUI [1,1]
    C0005910
    kg
    Subject height in cm
    Beskrivning

    HEIGHT_CM

    Datatyp

    float

    Måttenheter
    • cm
    Alias
    UMLS CUI [1,1]
    C0005890
    cm

    Similar models

    This subject phenotype table includes age, sex, and affection status for asthma. Additional variables have been added: smoking status (n=9 variables; includes mother and father smoking status), asthma age of onset, allergic rhinitis, weight, height, IgE measurements (n=3 variables), phadiatop measurements, spirometry measurements (n=3 variables), bronchodilator pills/inhalers/nebulizer (n=6 variables), steroid pills/inhalers (n=4 variables), and cromolyn inhalers (n=2 variables).

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datatyp
    Alias
    Item Group
    pht005905
    C3846158 (UMLS CUI [1,1])
    SUBJECT_ID
    Item
    De-identified Subject ID
    string
    C4684638 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    Item
    Subject age at health questionnaire administration and lung function measurement
    text
    C0001779 (UMLS CUI [1,1])
    C0011008 (UMLS CUI [1,2])
    C0205197 (UMLS CUI [1,3])
    C0018759 (UMLS CUI [1,4])
    C0034394 (UMLS CUI [1,5])
    C0024119 (UMLS CUI [1,6])
    Code List
    Subject age at health questionnaire administration and lung function measurement
    CL Item
    Missing (NA)
    Item
    Sex of participant
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Sex of participant
    CL Item
    Male (1)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Female (2)
    C0086287 (UMLS CUI [1,1])
    CL Item
    Missing (NA)
    Item
    Case control status of the subject for asthma
    text
    C3274646 (UMLS CUI [1,1])
    C0004096 (UMLS CUI [1,2])
    Code List
    Case control status of the subject for asthma
    CL Item
    Uncertain (0)
    CL Item
    Control (1)
    C3274648 (UMLS CUI [1,1])
    CL Item
    Case (2)
    C3274647 (UMLS CUI [1,1])
    CL Item
    Missing (NA)
    Item
    Batch in which total serum IgE and phadiatop measurements were run
    text
    C3641829 (UMLS CUI [1,1])
    C2229760 (UMLS CUI [1,2])
    C1441070 (UMLS CUI [1,3])
    C0242485 (UMLS CUI [1,4])
    Code List
    Batch in which total serum IgE and phadiatop measurements were run
    CL Item
    Missing (NA)
    CL Item
    STRINGS (STRINGS)
    Item
    Age of subject when sample used for total serum IgE measurement was collected
    text
    C0001779 (UMLS CUI [1,1])
    C0011008 (UMLS CUI [1,2])
    C0200345 (UMLS CUI [1,3])
    C2229760 (UMLS CUI [1,4])
    Code List
    Age of subject when sample used for total serum IgE measurement was collected
    CL Item
    Missing (NA)
    RAW_PHADIATOP_PAU_L
    Item
    Phadiatop measurements in PAU/L
    float
    C1441070 (UMLS CUI [1,1])
    C0242485 (UMLS CUI [1,2])
    C3846158 (UMLS CUI [1,3])
    Item
    Age of asthma onset
    text
    C0206132 (UMLS CUI [1,1])
    C0004096 (UMLS CUI [1,2])
    Code List
    Age of asthma onset
    CL Item
    Missing (NA)
    Item
    Self-reported allergic rhinitis based on health questionnaire
    text
    C2607914 (UMLS CUI [1,1])
    C2700446 (UMLS CUI [1,2])
    C0018759 (UMLS CUI [1,3])
    C0034394 (UMLS CUI [1,4])
    Code List
    Self-reported allergic rhinitis based on health questionnaire
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Bronchodilator pills, capsules, or liquids (current use according to health questionnaire)
    text
    C0006280 (UMLS CUI [1,1])
    C1533734 (UMLS CUI [1,2])
    C0006935 (UMLS CUI [1,3])
    C0994475 (UMLS CUI [1,4])
    C0302908 (UMLS CUI [1,5])
    Code List
    Bronchodilator pills, capsules, or liquids (current use according to health questionnaire)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Relief from bronchodilator pills, capsules, or liquids
    text
    C0564405 (UMLS CUI [1,1])
    C0006280 (UMLS CUI [1,2])
    C0994475 (UMLS CUI [1,3])
    C0006935 (UMLS CUI [1,4])
    C0302908 (UMLS CUI [1,5])
    Code List
    Relief from bronchodilator pills, capsules, or liquids
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Steroid/prednisone pills (current use according to health questionnaire)
    text
    C0038317 (UMLS CUI [1,1])
    C0032952 (UMLS CUI [1,2])
    C0994475 (UMLS CUI [1,3])
    Code List
    Steroid/prednisone pills (current use according to health questionnaire)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Relief from steroid/prednisone pills
    text
    C0564405 (UMLS CUI [1,1])
    C0038317 (UMLS CUI [1,2])
    C0032952 (UMLS CUI [1,3])
    C0994475 (UMLS CUI [1,4])
    Code List
    Relief from steroid/prednisone pills
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Bronchodilator inhalers (current use according to health questionnaire)
    text
    C0006280 (UMLS CUI [1,1])
    C0021461 (UMLS CUI [1,2])
    Code List
    Bronchodilator inhalers (current use according to health questionnaire)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Relief from bronchodilator inhalers
    text
    C0564405 (UMLS CUI [1,1])
    C0006280 (UMLS CUI [1,2])
    C0021461 (UMLS CUI [1,3])
    Code List
    Relief from bronchodilator inhalers
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Steroid inhalers (current use according to health questionnaire)
    text
    C0038317 (UMLS CUI [1,1])
    C0021461 (UMLS CUI [1,2])
    Code List
    Steroid inhalers (current use according to health questionnaire)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Relief from steroid inhalers
    text
    C0564405 (UMLS CUI [1,1])
    C0038317 (UMLS CUI [1,2])
    C0021461 (UMLS CUI [1,3])
    Code List
    Relief from steroid inhalers
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Cromolyn inhalers (current use according to health questionnaire)
    text
    C0086073 (UMLS CUI [1,1])
    C0021461 (UMLS CUI [1,2])
    Code List
    Cromolyn inhalers (current use according to health questionnaire)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Relief from cromolyn inhalers
    text
    C0564405 (UMLS CUI [1,1])
    C0086073 (UMLS CUI [1,2])
    C0021461 (UMLS CUI [1,3])
    Code List
    Relief from cromolyn inhalers
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Bronchodilator by nebulizer (current use according to health questionnaire)
    text
    C0006280 (UMLS CUI [1,1])
    C0027524 (UMLS CUI [1,2])
    Code List
    Bronchodilator by nebulizer (current use according to health questionnaire)
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Relief from bronchodilator by nebulizer
    text
    C0564405 (UMLS CUI [1,1])
    C0006280 (UMLS CUI [1,2])
    C0027524 (UMLS CUI [1,3])
    Code List
    Relief from bronchodilator by nebulizer
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    FEV1_PREBD
    Item
    FEV1 = Forced Expiratory Volume 1 (pre-bronchodilator)
    float
    C0748133 (UMLS CUI [1,1])
    C2599602 (UMLS CUI [1,2])
    FVC_PREBD
    Item
    FVC = Forced Vital Capacity (pre-bronchodilator)
    float
    C1287681 (UMLS CUI [1,1])
    C2599602 (UMLS CUI [1,2])
    FEV1_FVC
    Item
    FEV1/FVC (pre-bronchodilator)
    float
    C3815113 (UMLS CUI [1,1])
    C2599602 (UMLS CUI [1,2])
    Item
    Answer to "Have you ever smoked cigarettes?"
    text
    C3475470 (UMLS CUI [1,1])
    Code List
    Answer to "Have you ever smoked cigarettes?"
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Answer to "At what age did you start smoking?"
    text
    C3260575 (UMLS CUI [1,1])
    Code List
    Answer to "At what age did you start smoking?"
    CL Item
    Missing (NA)
    Item
    Answer to "Are you smoking now?"
    text
    C0521116 (UMLS CUI [1,1])
    C0700219 (UMLS CUI [1,2])
    Code List
    Answer to "Are you smoking now?"
    CL Item
    No (0)
    CL Item
    Yes (1)
    CL Item
    Missing (NA)
    Item
    Answer to "At what age did you stop smoking?"
    text
    C0001779 (UMLS CUI [1,1])
    C0425310 (UMLS CUI [1,2])
    Code List
    Answer to "At what age did you stop smoking?"
    CL Item
    Missing (NA)
    Item
    Answer to "On average, during the years that you have smoked, how many cigarettes did you smoke daily?"
    text
    C1510992 (UMLS CUI [1,1])
    C3694146 (UMLS CUI [1,2])
    Code List
    Answer to "On average, during the years that you have smoked, how many cigarettes did you smoke daily?"
    CL Item
    Missing (NA)
    Item
    Answer to "Have you ever smoked cigars?"
    text
    C1519384 (UMLS CUI [1,1])
    C0678446 (UMLS CUI [1,2])
    Code List
    Answer to "Have you ever smoked cigars?"
    CL Item
    No (0)
    CL Item
    Yes ever (1)
    CL Item
    Yes currently (2)
    CL Item
    Missing (NA)
    Item
    Answer to "Have you ever smoked a pipe?"
    text
    C1519384 (UMLS CUI [1,1])
    C0240766 (UMLS CUI [1,2])
    Code List
    Answer to "Have you ever smoked a pipe?"
    CL Item
    No (0)
    CL Item
    Yes ever (1)
    CL Item
    Yes currently (2)
    CL Item
    Missing (NA)
    Item
    Answer to "Did your mother smoke when you were a baby?"
    text
    C0026591 (UMLS CUI [1,1])
    C0700219 (UMLS CUI [1,2])
    C0231335 (UMLS CUI [1,3])
    Code List
    Answer to "Did your mother smoke when you were a baby?"
    CL Item
    No (0)
    CL Item
    Yes light smoker (1)
    CL Item
    Yes heavy smoker (2)
    CL Item
    Missing (NA)
    Item
    Answer to "Did your father smoke when you were a baby?"
    text
    C0015671 (UMLS CUI [1,1])
    C0700219 (UMLS CUI [1,2])
    C0231335 (UMLS CUI [1,3])
    Code List
    Answer to "Did your father smoke when you were a baby?"
    CL Item
    No (0)
    CL Item
    Yes light smoker (1)
    CL Item
    Yes heavy smoker (2)
    CL Item
    Missing (NA)
    LOG10_IGE_NG_ML
    Item
    Log10 (Total serum IgE in ng/ml)
    float
    C2229760 (UMLS CUI [1,1])
    WEIGHT_KG
    Item
    Subject weight in kg
    float
    C0005910 (UMLS CUI [1,1])
    HEIGHT_CM
    Item
    Subject height in cm
    float
    C0005890 (UMLS CUI [1,1])

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