Informatie:
Fout:
ID
45759
Beschrijving
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.
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Versies (1)
- 14-06-23 14-06-23 - Chiara Middel
Houder van rechten
Kathleen Barnes, PhD, University of Colorado, Denver, CO, USA
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14 juni 2023
DOI
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Licentie
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).
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent group information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, sex of subjects, and status of unannotated second degree relationships.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- 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).
- This sample attributes table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase and name of project, and study name provided to dbGaP.
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).
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent data table contains subject IDs and consent group information.
- This pedigree data table contains family relationships in the format of family IDs, subject IDs, father IDs, mother IDs, sex of subjects, and status of unannotated second degree relationships.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- 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).
- This sample attributes table includes body site where sample was collected, analyte type, sequencing center, funding source, TOPMed phase and name of project, and study name provided to dbGaP.
Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
SUBJECT_ID
Item
De-identified Subject ID
string
C4684638 (UMLS CUI [1,1])
C2348585 (UMLS CUI [1,2])
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])
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])
CL Item
Missing (NA)
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])
C0004096 (UMLS CUI [1,2])
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])
C2229760 (UMLS CUI [1,2])
C1441070 (UMLS CUI [1,3])
C0242485 (UMLS CUI [1,4])
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])
C0011008 (UMLS CUI [1,2])
C0200345 (UMLS CUI [1,3])
C2229760 (UMLS CUI [1,4])
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])
C0242485 (UMLS CUI [1,2])
C3846158 (UMLS CUI [1,3])
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])
C2700446 (UMLS CUI [1,2])
C0018759 (UMLS CUI [1,3])
C0034394 (UMLS CUI [1,4])
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])
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])
C0006280 (UMLS CUI [1,2])
C0994475 (UMLS CUI [1,3])
C0006935 (UMLS CUI [1,4])
C0302908 (UMLS CUI [1,5])
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])
C0032952 (UMLS CUI [1,2])
C0994475 (UMLS CUI [1,3])
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])
C0038317 (UMLS CUI [1,2])
C0032952 (UMLS CUI [1,3])
C0994475 (UMLS CUI [1,4])
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])
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])
C0006280 (UMLS CUI [1,2])
C0021461 (UMLS CUI [1,3])
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])
C0021461 (UMLS CUI [1,2])
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])
C0038317 (UMLS CUI [1,2])
C0021461 (UMLS CUI [1,3])
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])
C0021461 (UMLS CUI [1,2])
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])
C0086073 (UMLS CUI [1,2])
C0021461 (UMLS CUI [1,3])
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])
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])
C0006280 (UMLS CUI [1,2])
C0027524 (UMLS CUI [1,3])
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])
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])
C2599602 (UMLS CUI [1,2])
FEV1_FVC
Item
FEV1/FVC (pre-bronchodilator)
float
C3815113 (UMLS CUI [1,1])
C2599602 (UMLS CUI [1,2])
C2599602 (UMLS CUI [1,2])
Item
Answer to "Have you ever smoked cigarettes?"
text
C3475470 (UMLS CUI [1,1])
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])
CL Item
Missing (NA)
Item
Answer to "Are you smoking now?"
text
C0521116 (UMLS CUI [1,1])
C0700219 (UMLS CUI [1,2])
C0700219 (UMLS CUI [1,2])
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])
C0425310 (UMLS CUI [1,2])
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])
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])
C0678446 (UMLS CUI [1,2])
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])
C0240766 (UMLS CUI [1,2])
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])
C0700219 (UMLS CUI [1,2])
C0231335 (UMLS CUI [1,3])
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])
C0700219 (UMLS CUI [1,2])
C0231335 (UMLS CUI [1,3])
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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