ID

45759

Description

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

Keywords

  1. 6/14/23 6/14/23 - Chiara Middel
Copyright Holder

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

Uploaded on

June 14, 2023

DOI

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License

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
Description

pht005905

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

SUBJECT_ID

Data type

string

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

AGE

Data type

text

Measurement units
  • 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
Description

SEX

Data type

text

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

AFFECTION_STATUS

Data type

text

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

IGE_BATCH

Data type

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
Description

AGE_IGE

Data type

text

Measurement units
  • 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
Description

RAW_PHADIATOP_PAU_L

Data type

float

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

AGE_ONSET_ASTHMA

Data type

text

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

ALLERGIC_RHINITIS

Data type

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)
Description

BRONCHODILATOR_PILLS

Data type

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
Description

BRONCHODILATOR_PILLS_RELIEF

Data type

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)
Description

STEROID_PILLS

Data type

text

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

STEROID_PILLS_RELIEF

Data type

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)
Description

BRONCHODILATOR_INHALERS

Data type

text

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

BRONCHODILATOR_INHALERS_RELIEF

Data type

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)
Description

STEROID_INHALERS

Data type

text

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

STEROID_INHALERS_RELIEF

Data type

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)
Description

CROMOLYN_INHALERS

Data type

text

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

CROMOLYN_INHALERS_RELIEF

Data type

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)
Description

BRONCHODILATOR_NEBULIZER

Data type

text

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

BRONCHODILATOR_NEBULIZER_RELIEF

Data type

text

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

FEV1_PREBD

Data type

float

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

FVC_PREBD

Data type

float

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

FEV1_FVC

Data type

float

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

EVER_SMOKED_CIGARETTES

Data type

text

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

AGE_START_SMOKING

Data type

text

Measurement units
  • years
Alias
UMLS CUI [1,1]
C3260575
Answer to "Are you smoking now?"
Description

CURRENT_SMOKING

Data type

text

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

AGE_STOPPED_SMOKING

Data type

text

Measurement units
  • 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?"
Description

DAILY_NR_CIGARETTES

Data type

text

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

EVER_SMOKED_CIGARS

Data type

text

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

EVER_SMOKED_PIPE

Data type

text

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

MOTHER_SMOKED

Data type

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?"
Description

FATHER_SMOKED

Data type

text

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

LOG10_IGE_NG_ML

Data type

float

Measurement units
  • ng/ml
Alias
UMLS CUI [1,1]
C2229760
ng/ml
Subject weight in kg
Description

WEIGHT_KG

Data type

float

Measurement units
  • kg
Alias
UMLS CUI [1,1]
C0005910
kg
Subject height in cm
Description

HEIGHT_CM

Data type

float

Measurement units
  • 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
Type
Description | Question | Decode (Coded Value)
Data type
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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