Asthma probands for both the extended pedigrees and the trios were selected on the basis of a physician diagnosis of asthma; a history of recurrent asthma attacks or at least 2 respiratory symptoms; and either airway hyperresponsiveness to methacholine or significant response to bronchodilator (Albuterol) administration. These criteria are identical to the criteria used in the Childhood Asthma Management Program (CAMP).
Item
Asthma probands for both the extended pedigrees and the trios were selected on the basis of a physician diagnosis of asthma; a history of recurrent asthma attacks or at least 2 respiratory symptoms; and either airway hyperresponsiveness to methacholine or significant response to bronchodilator (Albuterol) administration. These criteria are identical to the criteria used in the Childhood Asthma Management Program (CAMP).
boolean
C1948021 (UMLS CUI [1,1])
C0030761 (UMLS CUI [1,2])
C0242802 (UMLS CUI [1,3])
C0031831 (UMLS CUI [1,4])
C1546899 (UMLS CUI [1,5])
C0004096 (UMLS CUI [1,6])
C0262926 (UMLS CUI [1,7])
C0347950 (UMLS CUI [1,8])
C2945760 (UMLS CUI [1,9])
C0037090 (UMLS CUI [1,10])
C0035228 (UMLS CUI [1,11])
C0600370 (UMLS CUI [1,12])
C3548479 (UMLS CUI [1,13])
C0264408 (UMLS CUI [1,14])
C1303150 (UMLS CUI [1,15])
*Asthma Extended Pedigrees*
Item
*Asthma Extended Pedigrees*
boolean
C0030761 (UMLS CUI [1,1])
C0004096 (UMLS CUI [1,2])
At least 15 families, each having at least two siblings and no more than one parent with a physician diagnosis of asthma were ascertained and enrolled into this study in Costa Rica. All available first- and second-degree relatives of these probands were enrolled, including affected and unaffected individuals. Probands and their families were recruited from a group of 72 asthmatic children ages 6-12 yr that participated in phase II of the International Study of Asthma and Allergies in Childhood (ISAAC). The Principal Investigator for this study in Costa Rica, Dr. Manuel Soto-Quiros, has been collaborating with us first on a pilot study of the genetics of asthma in Costa Rica. Informed consent for this study was approved by the IRB of the Hospital Nacional de Ninos (San Jose, Costa Rica) and the Costa Rican Ministry of Health, and approval was obtained from the Institutional Review Board of the Brigham and Women's Hospital for genotyping and data analysis. The parents of these children provided information on their respiratory health status and that of their children. Lineages for these 72 children (the probands) were traced back at least three generations using church records. All of these children have at least 6 great-grandparents from the Central Valley of Costa Rica, and are therefore descended primarily from the original founders of the population of the Central Valley of Costa Rica. After determining eligibility, Dr. Soto-Quiros contacted the parents of eligible children. We did, however, exclude trios that are selected for pedigree extension from any of the analyses planned on parent-child trios recruited for the present study. Parents of eligible children were contacted by Dr. Soto-Quiros by mail or by phone, according to their preference. Once an asthmatic child's family was selected for extension, we gave copies of a brief study description to the proband's parents, so that they could keep a copy for themselves and distribute the others to interested relatives. We then asked the proband's parents to ask their relatives for permission to be contacted regarding the study. Relatives that had given us permission to be contacted through the proband's parents were called by telephone to explain the study and to set up interviews.
Item
At least 15 families, each having at least two siblings and no more than one parent with a physician diagnosis of asthma were ascertained and enrolled into this study in Costa Rica. All available first- and second-degree relatives of these probands were enrolled, including affected and unaffected individuals. Probands and their families were recruited from a group of 72 asthmatic children ages 6-12 yr that participated in phase II of the International Study of Asthma and Allergies in Childhood (ISAAC). The Principal Investigator for this study in Costa Rica, Dr. Manuel Soto-Quiros, has been collaborating with us first on a pilot study of the genetics of asthma in Costa Rica. Informed consent for this study was approved by the IRB of the Hospital Nacional de Ninos (San Jose, Costa Rica) and the Costa Rican Ministry of Health, and approval was obtained from the Institutional Review Board of the Brigham and Women's Hospital for genotyping and data analysis. The parents of these children provided information on their respiratory health status and that of their children. Lineages for these 72 children (the probands) were traced back at least three generations using church records. All of these children have at least 6 great-grandparents from the Central Valley of Costa Rica, and are therefore descended primarily from the original founders of the population of the Central Valley of Costa Rica. After determining eligibility, Dr. Soto-Quiros contacted the parents of eligible children. We did, however, exclude trios that are selected for pedigree extension from any of the analyses planned on parent-child trios recruited for the present study. Parents of eligible children were contacted by Dr. Soto-Quiros by mail or by phone, according to their preference. Once an asthmatic child's family was selected for extension, we gave copies of a brief study description to the proband's parents, so that they could keep a copy for themselves and distribute the others to interested relatives. We then asked the proband's parents to ask their relatives for permission to be contacted regarding the study. Relatives that had given us permission to be contacted through the proband's parents were called by telephone to explain the study and to set up interviews.
boolean
C0015576 (UMLS CUI [1,1])
C3844700 (UMLS CUI [1,2])
C0557094 (UMLS CUI [1,3])
C0205447 (UMLS CUI [1,4])
C0030551 (UMLS CUI [1,5])
C0004096 (UMLS CUI [1,6])
C1546899 (UMLS CUI [1,7])
C0031831 (UMLS CUI [1,8])
C5419021 (UMLS CUI [1,9])
C0010182 (UMLS CUI [1,10])
C0470187 (UMLS CUI [1,11])
C1517194 (UMLS CUI [1,12])
C1519210 (UMLS CUI [1,13])
C2986417 (UMLS CUI [1,14])
C0522476 (UMLS CUI [1,15])
C0001779 (UMLS CUI [1,16])
C5447141 (UMLS CUI [1,17])
C0264408 (UMLS CUI [1,18])
C1521895 (UMLS CUI [1,19])
C0282116 (UMLS CUI [1,20])
C0031928 (UMLS CUI [1,21])
C0010182 (UMLS CUI [1,22])
C0021430 (UMLS CUI [1,23])
*Parent-Child Trios*
Item
*Parent-Child Trios*
boolean
C0260096 (UMLS CUI [1,1])
Probands for the trios were selected using the same asthma eligibility criteria outlined above. 1,200 asthmatic children and their parents (3,600 individuals) were ascertained and enrolled in this study in the Central Valley of Costa Rica. Probands were recruited from approximately 3,500 school children, ages 6-12 yr, from the Central Valley of Costa Rica. A short screening questionnaire was administered to the parents of these children to obtain information about the child's respiratory health status and the last names of both of his/her parents. The parents were instructed to have their child take the completed questionnaire back to school in a sealed envelope. Based on this information, we selected over 800 children with a physician diagnosis of asthma; either ≥ 2 respiratory symptoms or history of recurrent asthma attacks; and a high probability of having ≥ 6 great-grandparents from Central Valley origins, as determined by our genealogist. Once an asthmatic child's family was selected, we asked permission of the parents to conduct methacholine challenge testing on the index children to determine whether or not they are true asthmatics.
Item
Probands for the trios were selected using the same asthma eligibility criteria outlined above. 1,200 asthmatic children and their parents (3,600 individuals) were ascertained and enrolled in this study in the Central Valley of Costa Rica. Probands were recruited from approximately 3,500 school children, ages 6-12 yr, from the Central Valley of Costa Rica. A short screening questionnaire was administered to the parents of these children to obtain information about the child's respiratory health status and the last names of both of his/her parents. The parents were instructed to have their child take the completed questionnaire back to school in a sealed envelope. Based on this information, we selected over 800 children with a physician diagnosis of asthma; either ≥ 2 respiratory symptoms or history of recurrent asthma attacks; and a high probability of having ≥ 6 great-grandparents from Central Valley origins, as determined by our genealogist. Once an asthmatic child's family was selected, we asked permission of the parents to conduct methacholine challenge testing on the index children to determine whether or not they are true asthmatics.
boolean
C4554048 (UMLS CUI [1,1])
C0242802 (UMLS CUI [1,2])
C0004096 (UMLS CUI [1,3])
C1516637 (UMLS CUI [1,4])
C0008059 (UMLS CUI [2,1])
C0004096 (UMLS CUI [2,2])
C0030551 (UMLS CUI [2,3])
C5419021 (UMLS CUI [2,4])
C0010182 (UMLS CUI [2,5])
C0017446 (UMLS CUI [2,6])
C0001779 (UMLS CUI [2,7])
C1134635 (UMLS CUI [3,1])
C1521801 (UMLS CUI [3,2])
C0030551 (UMLS CUI [3,3])
C0521346 (UMLS CUI [3,4])
C0018759 (UMLS CUI [3,5])
C0008059 (UMLS CUI [3,6])
C1301584 (UMLS CUI [3,7])
C1442085 (UMLS CUI [4,1])
C0030551 (UMLS CUI [4,2])
C2826970 (UMLS CUI [4,3])
C0040756 (UMLS CUI [4,4])
C0036375 (UMLS CUI [4,5])
C4528946 (UMLS CUI [4,6])
C0349677 (UMLS CUI [4,7])
C0347950 (UMLS CUI [5,1])
C2945760 (UMLS CUI [5,2])
C4699572 (UMLS CUI [5,3])
C0439093 (UMLS CUI [5,4])
C1265611 (UMLS CUI [5,5])
C0337480 (UMLS CUI [5,6])
C0017446 (UMLS CUI [5,7])
C0010182 (UMLS CUI [5,8])
C0017298 (UMLS CUI [5,9])
C0242802 (UMLS CUI [6,1])
C0521104 (UMLS CUI [6,2])
C0430567 (UMLS CUI [6,3])
C0039593 (UMLS CUI [6,4])
C0004096 (UMLS CUI [6,5])
*Inclusion Criteria*
Item
*Inclusion Criteria*
boolean
C1512693 (UMLS CUI [1,1])
A family was eligible for inclusion in this study only if the asthmatic proband in that family meets all of the following criteria. Each proband must: Be at least 6 years of age
Item
A family was eligible for inclusion in this study only if the asthmatic proband in that family meets all of the following criteria. Each proband must: Be at least 6 years of age
boolean
C1512693 (UMLS CUI [1,1])
C1948021 (UMLS CUI [1,2])
C0004096 (UMLS CUI [1,3])
C1516637 (UMLS CUI [1,4])
C1550543 (UMLS CUI [1,5])
C0001779 (UMLS CUI [1,6])
Have a physician diagnosis of asthma and either ≥ 2 respiratory symptoms or a history of recurrent asthma attacks
Item
Have a physician diagnosis of asthma and either ≥ 2 respiratory symptoms or a history of recurrent asthma attacks
boolean
C0004096 (UMLS CUI [1,1])
C0031831 (UMLS CUI [1,2])
C0037090 (UMLS CUI [1,3])
C1265611 (UMLS CUI [1,4])
C0262926 (UMLS CUI [1,5])
C0347950 (UMLS CUI [1,6])
C2945760 (UMLS CUI [1,7])
Have either airway hyperresponsiveness to methacholine (PD20 ≤ 16 mg/ml) or (if the FEV1 is ≤ 65% of predicted) a significant bronchodilator response (an increase of at least 12% from baseline FEV1)
Item
Have either airway hyperresponsiveness to methacholine (PD20 ≤ 16 mg/ml) or (if the FEV1 is ≤ 65% of predicted) a significant bronchodilator response (an increase of at least 12% from baseline FEV1)
boolean
C4761238 (UMLS CUI [1,1])
C0600370 (UMLS CUI [1,2])
C3548479 (UMLS CUI [1,3])
C0750502 (UMLS CUI [1,4])
Have at least 6 great-grandparents born in the Central Valley of Costa Rica
Item
Have at least 6 great-grandparents born in the Central Valley of Costa Rica
boolean
C1265611 (UMLS CUI [1,1])
C0337480 (UMLS CUI [1,2])
C0032040 (UMLS CUI [1,3])
C0010182 (UMLS CUI [1,4])
Have his/her parents give voluntary written consent to participate in the study
Item
Have his/her parents give voluntary written consent to participate in the study
boolean
C0811741 (UMLS CUI [1,1])
C0030551 (UMLS CUI [1,2])
Give his/her assent to participate in the study
Item
Give his/her assent to participate in the study
boolean
C5446092 (UMLS CUI [1,1])
Have at least 2 siblings with physician-diagnosed asthma and no more than one parent with a physician diagnosis of asthma
Item
Have at least 2 siblings with physician-diagnosed asthma and no more than one parent with a physician diagnosis of asthma
boolean
C0439093 (UMLS CUI [1,1])
C0449788 (UMLS CUI [1,2])
C0037047 (UMLS CUI [1,3])
C3843752 (UMLS CUI [1,4])
C1518422 (UMLS CUI [2,1])
C5142998 (UMLS CUI [2,2])
C0030551 (UMLS CUI [2,3])
C3843752 (UMLS CUI [2,4])
All first- and second-degree relatives of the proband, affected and unaffected were enrolled in the study of 15 large, multigenerational family pedigrees if available and willing to participate.
Item
All first- and second-degree relatives of the proband, affected and unaffected were enrolled in the study of 15 large, multigenerational family pedigrees if available and willing to participate.
boolean
C1517194 (UMLS CUI [1,1])
C1519210 (UMLS CUI [1,2])
C0522476 (UMLS CUI [1,3])
C2986417 (UMLS CUI [1,4])
C5419021 (UMLS CUI [1,5])
C0470187 (UMLS CUI [1,6])
C3669174 (UMLS CUI [1,7])
C0030699 (UMLS CUI [1,8])
The natural mother and father of the proband were enrolled in the study of 600 parent-child trios if available and willing to participate.
Item
The natural mother and father of the proband were enrolled in the study of 600 parent-child trios if available and willing to participate.
boolean
C0337494 (UMLS CUI [1,1])
C0337486 (UMLS CUI [1,2])
C1948021 (UMLS CUI [1,3])
C1516879 (UMLS CUI [1,4])
C0470187 (UMLS CUI [1,5])
C0260096 (UMLS CUI [1,6])
C0449788 (UMLS CUI [1,7])
C0679823 (UMLS CUI [1,8])
*Exclusion Criteria*
Item
*Exclusion Criteria*
boolean
C0680251 (UMLS CUI [1,1])
A subject was not eligible for inclusion in this study if any of the following criteria apply. Each subject must not: Be adopted
Item
A subject was not eligible for inclusion in this study if any of the following criteria apply. Each subject must not: Be adopted
boolean
C0013893 (UMLS CUI [1,1])
C1512693 (UMLS CUI [1,2])
C0947630 (UMLS CUI [1,3])
C1518422 (UMLS CUI [1,4])
C0425382 (UMLS CUI [1,5])
Have a chronic respiratory disorder other than asthma (e.g., active tuberculosis, bronchiectasis). Inactive tuberculosis is not an exclusion criterion
Item
Have a chronic respiratory disorder other than asthma (e.g., active tuberculosis, bronchiectasis). Inactive tuberculosis is not an exclusion criterion
boolean
C1385073 (UMLS CUI [1,1])
C4723751 (UMLS CUI [1,2])
C0004096 (UMLS CUI [1,3])
C0151332 (UMLS CUI [1,4])
C0006267 (UMLS CUI [1,5])
C1609538 (UMLS CUI [2,1])
C1518422 (UMLS CUI [2,2])
C0680251 (UMLS CUI [2,3])
For the study of large, multigenerational pedigrees only: Have a familial relationship to any of the remaining fourteen (14) families over the last four generations.
Item
For the study of large, multigenerational pedigrees only: Have a familial relationship to any of the remaining fourteen (14) families over the last four generations.
boolean
C0030761 (UMLS CUI [1,1])
C0015341 (UMLS CUI [1,2])
C0015608 (UMLS CUI [1,3])
C1527428 (UMLS CUI [1,4])
C4554048 (UMLS CUI [1,5])
C0332119 (UMLS CUI [1,6])
C0079411 (UMLS CUI [1,7])
C0449788 (UMLS CUI [1,8])
*Subject Reconsideration for Inclusion*
Item
*Subject Reconsideration for Inclusion*
boolean
C0681850 (UMLS CUI [1,1])
C3846158 (UMLS CUI [1,2])
C1512693 (UMLS CUI [1,3])
Subjects fulfilling the following exclusion criteria below might have been eligible for inclusion in the study at a later date provided that the study physician did not feel that their participation woulld adversely influence the results of the study. Subjects who had taken antibiotics for respiratory disease within one month or have had respiratory infection within 6 weeks of the visit.
Item
Subjects fulfilling the following exclusion criteria below might have been eligible for inclusion in the study at a later date provided that the study physician did not feel that their participation woulld adversely influence the results of the study. Subjects who had taken antibiotics for respiratory disease within one month or have had respiratory infection within 6 weeks of the visit.
boolean
C0681850 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
C3245505 (UMLS CUI [1,3])
C1548635 (UMLS CUI [1,4])
C1512693 (UMLS CUI [1,5])
C1548197 (UMLS CUI [1,6])
C0031831 (UMLS CUI [1,7])
C5418626 (UMLS CUI [1,8])
C0879626 (UMLS CUI [1,9])
C4054723 (UMLS CUI [1,10])
C0683954 (UMLS CUI [1,11])
C0681850 (UMLS CUI [2,1])
C0003232 (UMLS CUI [2,2])
C5204646 (UMLS CUI [2,3])
C0035242 (UMLS CUI [2,4])
C0332168 (UMLS CUI [2,5])
C0332152 (UMLS CUI [2,6])
C0545082 (UMLS CUI [2,7])