ID

45438

Description

Principal Investigator: David A. Schwartz, MD, University of Colorado Denver, Aurora CO, USA MeSH: Idiopathic Pulmonary Fibrosis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000582 The NHLBI "Grand Opportunity" Exome Sequencing Project (GO-ESP), a signature project of the NHLBI Recovery Act investment, was designed to identify genetic variants in coding regions (exons) of the human genome (the "exome") that are associated with heart, lung and blood diseases. These and related diseases that are of high impact to public health and individuals from diverse racial and ethnic groups will be studied. These data may help researchers understand the causes of disease, contributing to better ways to prevent, diagnose, and treat diseases, as well as determine whether to tailor prevention and treatments to specific populations. This could lead to more effective treatments and reduce the likelihood of side effects. GO-ESP is comprised of five collaborative components: 3 cohort consortia - HeartGO, LungGO, and WHISP - and 2 sequencing centers - BroadGO and SeattleGO. The Familial Interstitial Pneumonia (FIP) project seeks to identify genetic variants in coding regions of the human genome that are linked to FIP by examining the coding regions among relatives with FIP. These data will be used in conjunction with our other genetic studies to help us better understand how and why some individuals develop pulmonary fibrosis.

Link

dbGaP study = phs000582

Keywords

Versions (1)
  1. 11/29/22 11/29/22 - Simon Heim
Copyright Holder

David A. Schwartz, MD, University of Colorado Denver, Aurora CO, USA

Uploaded on

November 29, 2022

DOI

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Creative Commons BY 4.0
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dbGaP phs000582 NHLBI GO-ESP: Family Studies (Familial Interstitial Pneumonia)

English

Eligibility Criteria

6 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Inclusion: Familial Interstitial Pneumonia (FIP) families qualify for this study after the evaluation described below identifies the presence of two or more cases of definite or probable idiopathic interstitial pneumonia (IIP) in individuals genetically related within three degrees. In at least one of these cases, the IIP diagnosis must be definite/probable idiopathic pulmonary fibrosis/usual interstitial pneumonia (IPF/UIP); requiring one case of IPF/UIP anchors the FIP families with the most common and severe form of IIP and creates consistency between the families.
Description

Inclusion: Familial Interstitial Pneumonia (FIP) families qualify for this study after the evaluation described below identifies the presence of two or more cases of definite or probable idiopathic interstitial pneumonia (IIP) in individuals genetically related within three degrees. In at least one of these cases, the IIP diagnosis must be definite/probable idiopathic pulmonary fibrosis/usual interstitial pneumonia (IPF/UIP); requiring one case of IPF/UIP anchors the FIP families with the most common and severe form of IIP and creates consistency between the families.

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0241888
UMLS CUI [1,3]
C0206061
UMLS CUI [1,4]
C0220825
UMLS CUI [1,5]
C5446819
UMLS CUI [1,6]
C3844700
UMLS CUI [1,7]
C2350236
UMLS CUI [1,8]
C0445223
UMLS CUI [1,9]
C1800706
UMLS CUI [1,10]
C4721509
Exclusion: Because this is a study of genetic etiological factors in pulmonary fibrosis, we exclude subjects with: 1) medical conditions associated with the development of interstitial lung disease (ILD), including collagen vascular diseases; 2) clinically significant medication, drug, occupational, environmental, or avocational exposures known to be associated with the development of ILD; 3) known genetic diseases associated with ILD, such as Hermansky-Pudlak Syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; and 4) cases of pulmonary fibrosis occurring in those less than 20 years of age. Although early onset cases are often considered to be valuable in genetic studies, it is very likely that cases of ILD occurring before age 20 do not represent pulmonary fibrosis and are likely to be etiologically different than cases of ILD in adults.
Description

Exclusion: Because this is a study of genetic etiological factors in pulmonary fibrosis, we exclude subjects with: 1) medical conditions associated with the development of interstitial lung disease (ILD), including collagen vascular diseases; 2) clinically significant medication, drug, occupational, environmental, or avocational exposures known to be associated with the development of ILD; 3) known genetic diseases associated with ILD, such as Hermansky-Pudlak Syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; and 4) cases of pulmonary fibrosis occurring in those less than 20 years of age. Although early onset cases are often considered to be valuable in genetic studies, it is very likely that cases of ILD occurring before age 20 do not represent pulmonary fibrosis and are likely to be etiologically different than cases of ILD in adults.

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C0314603
UMLS CUI [1,3]
C1254373
UMLS CUI [1,4]
C0034069
UMLS CUI [1,5]
C4745084
UMLS CUI [1,6]
C1527148
UMLS CUI [1,7]
C0206062
UMLS CUI [1,8]
C0262428
UMLS CUI [1,9]
C0013227
UMLS CUI [1,10]
C3544061
UMLS CUI [1,11]
C0028798
UMLS CUI [1,12]
C0019247
UMLS CUI [1,13]
C0079504
UMLS CUI [1,14]
C0162678
UMLS CUI [1,15]
C0041341
UMLS CUI [1,16]
C0028064
UMLS CUI [1,17]
C0017205
UMLS CUI [1,18]
C0342637
UMLS CUI [1,19]
C0001779
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Similar models

Eligibility Criteria

6 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Inclusion: Familial Interstitial Pneumonia (FIP) families qualify for this study after the evaluation described below identifies the presence of two or more cases of definite or probable idiopathic interstitial pneumonia (IIP) in individuals genetically related within three degrees. In at least one of these cases, the IIP diagnosis must be definite/probable idiopathic pulmonary fibrosis/usual interstitial pneumonia (IPF/UIP); requiring one case of IPF/UIP anchors the FIP families with the most common and severe form of IIP and creates consistency between the families.
Item
Inclusion: Familial Interstitial Pneumonia (FIP) families qualify for this study after the evaluation described below identifies the presence of two or more cases of definite or probable idiopathic interstitial pneumonia (IIP) in individuals genetically related within three degrees. In at least one of these cases, the IIP diagnosis must be definite/probable idiopathic pulmonary fibrosis/usual interstitial pneumonia (IPF/UIP); requiring one case of IPF/UIP anchors the FIP families with the most common and severe form of IIP and creates consistency between the families.
boolean
C1512693 (UMLS CUI [1,1])
C0241888 (UMLS CUI [1,2])
C0206061 (UMLS CUI [1,3])
C0220825 (UMLS CUI [1,4])
C5446819 (UMLS CUI [1,5])
C3844700 (UMLS CUI [1,6])
C2350236 (UMLS CUI [1,7])
C0445223 (UMLS CUI [1,8])
C1800706 (UMLS CUI [1,9])
C4721509 (UMLS CUI [1,10])
Exclusion: Because this is a study of genetic etiological factors in pulmonary fibrosis, we exclude subjects with: 1) medical conditions associated with the development of interstitial lung disease (ILD), including collagen vascular diseases; 2) clinically significant medication, drug, occupational, environmental, or avocational exposures known to be associated with the development of ILD; 3) known genetic diseases associated with ILD, such as Hermansky-Pudlak Syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; and 4) cases of pulmonary fibrosis occurring in those less than 20 years of age. Although early onset cases are often considered to be valuable in genetic studies, it is very likely that cases of ILD occurring before age 20 do not represent pulmonary fibrosis and are likely to be etiologically different than cases of ILD in adults.
Item
Exclusion: Because this is a study of genetic etiological factors in pulmonary fibrosis, we exclude subjects with: 1) medical conditions associated with the development of interstitial lung disease (ILD), including collagen vascular diseases; 2) clinically significant medication, drug, occupational, environmental, or avocational exposures known to be associated with the development of ILD; 3) known genetic diseases associated with ILD, such as Hermansky-Pudlak Syndrome, neurofibromatosis, tuberous sclerosis, Neimann-Pick disease, Gaucher's disease, and familial hypocalciuric hypercalcemia; and 4) cases of pulmonary fibrosis occurring in those less than 20 years of age. Although early onset cases are often considered to be valuable in genetic studies, it is very likely that cases of ILD occurring before age 20 do not represent pulmonary fibrosis and are likely to be etiologically different than cases of ILD in adults.
boolean
C0680251 (UMLS CUI [1,1])
C0314603 (UMLS CUI [1,2])
C1254373 (UMLS CUI [1,3])
C0034069 (UMLS CUI [1,4])
C4745084 (UMLS CUI [1,5])
C1527148 (UMLS CUI [1,6])
C0206062 (UMLS CUI [1,7])
C0262428 (UMLS CUI [1,8])
C0013227 (UMLS CUI [1,9])
C3544061 (UMLS CUI [1,10])
C0028798 (UMLS CUI [1,11])
C0019247 (UMLS CUI [1,12])
C0079504 (UMLS CUI [1,13])
C0162678 (UMLS CUI [1,14])
C0041341 (UMLS CUI [1,15])
C0028064 (UMLS CUI [1,16])
C0017205 (UMLS CUI [1,17])
C0342637 (UMLS CUI [1,18])
C0001779 (UMLS CUI [1,19])
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