ID

45881

Description

Principal Investigator: Marlene Rabinovitch, PhD, Cardiovascular Institute and Department of Pediatrics, Genetics, and Medicine, Stanford University School of Medicine, CA, USA MeSH: Pulmonary Arterial Hypertension https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000998 The transcriptome of pulmonary arterial endothelial cells from healthy lungs and from lungs of patients with idiopathic pulmonary arterial hypertension have been analyzed and specific differences in disease-relevant pathways were identified. The genes identified as altered in these patients have direct effects on pulmonary arterial endothelial cell function. This finding may underlie the inability of the pulmonary vasculature to respond to and repair the damage observed in pulmonary hypertension.

Link

dbGaP study = phs000998

Keywords

Versions (1)
  1. 11/13/23 11/13/23 - Simon Heim
Copyright Holder

Marlene Rabinovitch, PhD, Cardiovascular Institute and Department of Pediatrics, Genetics, and Medicine, Stanford University School of Medicine, CA, USA

Uploaded on

November 13, 2023

DOI

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License

Creative Commons BY 4.0
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dbGaP phs000998 Transcriptome Profile of Endothelial Cells in PAH Patients vs Controls

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
*Control donor lung exclusion criteria: *
Description

*Control donor lung exclusion criteria: *

Data type

boolean

Alias
UMLS CUI [1,1]
C0680251
UMLS CUI [1,2]
C2242763
UMLS CUI [1,3]
C0009932
Unused donor lungs were not considered for study if the following criteria were met: <ol type="1">
Description

Unused donor lungs were not considered for study if the following criteria were met: <ol type="1">

Data type

boolean

Alias
UMLS CUI [1,1]
C0445107
UMLS CUI [1,2]
C5551647
UMLS CUI [1,3]
C0680251
Lungs from donors ≥ 65 years old (no lower age limit)
Description

Lungs from donors ≥ 65 years old (no lower age limit)

Data type

boolean

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C2242763
Lungs from donors with arterial blood gas results showing a PaO2/FiO2 ratio of <300 mmHg (the donor should be mechanically ventilated using a conventional ventilator mode with positive end-expiratory pressure of ≤ 8 mm Hg.)
Description

Lungs from donors with arterial blood gas results showing a PaO2/FiO2 ratio of <300 mmHg (the donor should be mechanically ventilated using a conventional ventilator mode with positive end-expiratory pressure of ≤ 8 mm Hg.)

Data type

boolean

Alias
UMLS CUI [1,1]
C5551647
UMLS CUI [1,2]
C0024109
UMLS CUI [1,3]
C0150411
UMLS CUI [1,4]
C1696484
UMLS CUI [1,5]
C0199470
UMLS CUI [1,6]
C2223979
UMLS CUI [1,7]
C0032740
Lungs from donors who are seropositive for HIV, HCV or HBV (Hepatitis B surface antigen).
Description

Lungs from donors who are seropositive for HIV, HCV or HBV (Hepatitis B surface antigen).

Data type

boolean

Alias
UMLS CUI [1,1]
C0029206
UMLS CUI [1,2]
C0024109
UMLS CUI [1,3]
C0019699
UMLS CUI [1,4]
C0019196
UMLS CUI [1,5]
C0019169
UMLS CUI [1,6]
C0521143
Lungs from donors who are high risk for HIV, HCV or HBV infections (e.g., known history of intravenous drug abuse and/or other high-risk behavior).
Description

Lungs from donors who are high risk for HIV, HCV or HBV infections (e.g., known history of intravenous drug abuse and/or other high-risk behavior).

Data type

boolean

Alias
UMLS CUI [1,1]
C0024109
UMLS CUI [1,2]
C0029206
UMLS CUI [1,3]
C4319571
UMLS CUI [1,4]
C0019693
UMLS CUI [1,5]
C0019163
UMLS CUI [1,6]
C0019196
UMLS CUI [1,7]
C0262926
UMLS CUI [1,8]
C0086181
UMLS CUI [1,9]
C1171309
Lungs from donors with a history of amphetamine/methamphetamine use
Description

Lungs from donors with a history of amphetamine/methamphetamine use

Data type

boolean

Alias
UMLS CUI [1,1]
C0024109
UMLS CUI [1,2]
C0029206
UMLS CUI [1,3]
C0262926
UMLS CUI [1,4]
C0805080
UMLS CUI [1,5]
C0013146
Lungs noted to have gross aspiration/infiltrates involving both lungs on chest radiographs (unless the infiltrates are due to volume overload and these infiltrates resolved with diuresis.)
Description

Lungs noted to have gross aspiration/infiltrates involving both lungs on chest radiographs (unless the infiltrates are due to volume overload and these infiltrates resolved with diuresis.)

Data type

boolean

Alias
UMLS CUI [1,1]
C0024109
UMLS CUI [1,2]
C0332448
UMLS CUI [1,3]
C1720922
UMLS CUI [1,4]
C3842377
UMLS CUI [1,5]
C0546817
UMLS CUI [1,6]
C0151225
UMLS CUI [1,7]
C3714811
UMLS CUI [1,8]
C0012797
Lungs from donors who have received massive transfusion (≥10 units of packed red blood cells, 10 units of fresh frozen plasma or 10 units of platelets.
Description

Lungs from donors who have received massive transfusion (≥10 units of packed red blood cells, 10 units of fresh frozen plasma or 10 units of platelets.

Data type

boolean

Alias
UMLS CUI [1,1]
C0024109
UMLS CUI [1,2]
C0029206
UMLS CUI [1,3]
C0456675
UMLS CUI [1,4]
C2316467
UMLS CUI [1,5]
C0016709
UMLS CUI [1,6]
C0086818
Lungs with unexpected pulmonary problems such as significant emphysema or pulmonary fibrosis noted on radiographic studies or significant pulmonary hypertension (right ventricular dilatation and/or estimated systolic pulmonary arterial pressure ≤45 mmHg) noted on echocardiography
Description

Lungs with unexpected pulmonary problems such as significant emphysema or pulmonary fibrosis noted on radiographic studies or significant pulmonary hypertension (right ventricular dilatation and/or estimated systolic pulmonary arterial pressure ≤45 mmHg) noted on echocardiography

Data type

boolean

Alias
UMLS CUI [1,1]
C0024109
UMLS CUI [1,2]
C0740941
UMLS CUI [1,3]
C4055646
UMLS CUI [1,4]
C0034067
UMLS CUI [1,5]
C0034069
UMLS CUI [1,6]
C0043299
UMLS CUI [1,7]
C0020542
UMLS CUI [1,8]
C0344893
UMLS CUI [1,9]
C0428643
UMLS CUI [1,10]
C0750572
UMLS CUI [1,11]
C0013516
Lung from donors who have a smoking history of ≥ 50 pack-years.
Description

Lung from donors who have a smoking history of ≥ 50 pack-years.

Data type

boolean

Alias
UMLS CUI [1,1]
C0024109
UMLS CUI [1,2]
C0029206
UMLS CUI [1,3]
C1519384
UMLS CUI [1,4]
C1277691
Hospitalization for >7 days. - *If lungs from cardiac death donors, further exclusion criteria apply.*
Description

Hospitalization for >7 days. - *If lungs from cardiac death donors, further exclusion criteria apply.*

Data type

boolean

Alias
UMLS CUI [1,1]
C0019993
UMLS CUI [1,2]
C0449238
UMLS CUI [1,3]
C0376297
UMLS CUI [1,4]
C0029206
UMLS CUI [1,5]
C0680251
UMLS CUI [1,6]
C1517331
Infiltrates on the last chest x-ray (this X-ray must be taken within 24 hrs of donor's death.)
Description

Infiltrates on the last chest x-ray (this X-ray must be taken within 24 hrs of donor's death.)

Data type

boolean

Alias
UMLS CUI [1,1]
C0239018
UMLS CUI [1,2]
C0449238
UMLS CUI [1,3]
C0332152
UMLS CUI [1,4]
C1301931
Fever >38.2°C (100.7°F) within 24 hrs of donor' demise
Description

Fever >38.2°C (100.7°F) within 24 hrs of donor' demise

Data type

boolean

Alias
UMLS CUI [1,1]
C0015967
UMLS CUI [1,2]
C0449238
UMLS CUI [1,3]
C0332152
UMLS CUI [1,4]
C0011065
Lungs harvested >60 min after donor's demise
Description

Lungs harvested >60 min after donor's demise

Data type

boolean

Alias
UMLS CUI [1,1]
C0396602
UMLS CUI [1,2]
C0687676
UMLS CUI [1,3]
C0011065
UMLS CUI [1,4]
C0449238
*Case inclusion criteria* <ol type="1">
Description

*Case inclusion criteria* <ol type="1">

Data type

boolean

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C1706256
Diagnosis of idiopathic or familial pulmonary arterial hypertension
Description

Diagnosis of idiopathic or familial pulmonary arterial hypertension

Data type

boolean

Alias
UMLS CUI [1,1]
C0011900
UMLS CUI [1,2]
C3203102
UMLS CUI [1,3]
C1701939
Consent for donation
Description

Consent for donation

Data type

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1318453
Age 18-65 years
Description

Age 18-65 years

Data type

boolean

Alias
UMLS CUI [1,1]
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])
*Control donor lung exclusion criteria: *
Item
*Control donor lung exclusion criteria: *
boolean
C0680251 (UMLS CUI [1,1])
C2242763 (UMLS CUI [1,2])
C0009932 (UMLS CUI [1,3])
Unused donor lungs were not considered for study if the following criteria were met: <ol type="1">
Item
Unused donor lungs were not considered for study if the following criteria were met: <ol type="1">
boolean
C0445107 (UMLS CUI [1,1])
C5551647 (UMLS CUI [1,2])
C0680251 (UMLS CUI [1,3])
Lungs from donors ≥ 65 years old (no lower age limit)
Item
Lungs from donors ≥ 65 years old (no lower age limit)
boolean
C0001779 (UMLS CUI [1,1])
C2242763 (UMLS CUI [1,2])
Lungs from donors with arterial blood gas results showing a PaO2/FiO2 ratio of <300 mmHg (the donor should be mechanically ventilated using a conventional ventilator mode with positive end-expiratory pressure of ≤ 8 mm Hg.)
Item
Lungs from donors with arterial blood gas results showing a PaO2/FiO2 ratio of <300 mmHg (the donor should be mechanically ventilated using a conventional ventilator mode with positive end-expiratory pressure of ≤ 8 mm Hg.)
boolean
C5551647 (UMLS CUI [1,1])
C0024109 (UMLS CUI [1,2])
C0150411 (UMLS CUI [1,3])
C1696484 (UMLS CUI [1,4])
C0199470 (UMLS CUI [1,5])
C2223979 (UMLS CUI [1,6])
C0032740 (UMLS CUI [1,7])
Lungs from donors who are seropositive for HIV, HCV or HBV (Hepatitis B surface antigen).
Item
Lungs from donors who are seropositive for HIV, HCV or HBV (Hepatitis B surface antigen).
boolean
C0029206 (UMLS CUI [1,1])
C0024109 (UMLS CUI [1,2])
C0019699 (UMLS CUI [1,3])
C0019196 (UMLS CUI [1,4])
C0019169 (UMLS CUI [1,5])
C0521143 (UMLS CUI [1,6])
Lungs from donors who are high risk for HIV, HCV or HBV infections (e.g., known history of intravenous drug abuse and/or other high-risk behavior).
Item
Lungs from donors who are high risk for HIV, HCV or HBV infections (e.g., known history of intravenous drug abuse and/or other high-risk behavior).
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C4319571 (UMLS CUI [1,3])
C0019693 (UMLS CUI [1,4])
C0019163 (UMLS CUI [1,5])
C0019196 (UMLS CUI [1,6])
C0262926 (UMLS CUI [1,7])
C0086181 (UMLS CUI [1,8])
C1171309 (UMLS CUI [1,9])
Lungs from donors with a history of amphetamine/methamphetamine use
Item
Lungs from donors with a history of amphetamine/methamphetamine use
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C0262926 (UMLS CUI [1,3])
C0805080 (UMLS CUI [1,4])
C0013146 (UMLS CUI [1,5])
Lungs noted to have gross aspiration/infiltrates involving both lungs on chest radiographs (unless the infiltrates are due to volume overload and these infiltrates resolved with diuresis.)
Item
Lungs noted to have gross aspiration/infiltrates involving both lungs on chest radiographs (unless the infiltrates are due to volume overload and these infiltrates resolved with diuresis.)
boolean
C0024109 (UMLS CUI [1,1])
C0332448 (UMLS CUI [1,2])
C1720922 (UMLS CUI [1,3])
C3842377 (UMLS CUI [1,4])
C0546817 (UMLS CUI [1,5])
C0151225 (UMLS CUI [1,6])
C3714811 (UMLS CUI [1,7])
C0012797 (UMLS CUI [1,8])
Lungs from donors who have received massive transfusion (≥10 units of packed red blood cells, 10 units of fresh frozen plasma or 10 units of platelets.
Item
Lungs from donors who have received massive transfusion (≥10 units of packed red blood cells, 10 units of fresh frozen plasma or 10 units of platelets.
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C0456675 (UMLS CUI [1,3])
C2316467 (UMLS CUI [1,4])
C0016709 (UMLS CUI [1,5])
C0086818 (UMLS CUI [1,6])
Lungs with unexpected pulmonary problems such as significant emphysema or pulmonary fibrosis noted on radiographic studies or significant pulmonary hypertension (right ventricular dilatation and/or estimated systolic pulmonary arterial pressure ≤45 mmHg) noted on echocardiography
Item
Lungs with unexpected pulmonary problems such as significant emphysema or pulmonary fibrosis noted on radiographic studies or significant pulmonary hypertension (right ventricular dilatation and/or estimated systolic pulmonary arterial pressure ≤45 mmHg) noted on echocardiography
boolean
C0024109 (UMLS CUI [1,1])
C0740941 (UMLS CUI [1,2])
C4055646 (UMLS CUI [1,3])
C0034067 (UMLS CUI [1,4])
C0034069 (UMLS CUI [1,5])
C0043299 (UMLS CUI [1,6])
C0020542 (UMLS CUI [1,7])
C0344893 (UMLS CUI [1,8])
C0428643 (UMLS CUI [1,9])
C0750572 (UMLS CUI [1,10])
C0013516 (UMLS CUI [1,11])
Lung from donors who have a smoking history of ≥ 50 pack-years.
Item
Lung from donors who have a smoking history of ≥ 50 pack-years.
boolean
C0024109 (UMLS CUI [1,1])
C0029206 (UMLS CUI [1,2])
C1519384 (UMLS CUI [1,3])
C1277691 (UMLS CUI [1,4])
Hospitalization for >7 days. - *If lungs from cardiac death donors, further exclusion criteria apply.*
Item
Hospitalization for >7 days. - *If lungs from cardiac death donors, further exclusion criteria apply.*
boolean
C0019993 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0376297 (UMLS CUI [1,3])
C0029206 (UMLS CUI [1,4])
C0680251 (UMLS CUI [1,5])
C1517331 (UMLS CUI [1,6])
Infiltrates on the last chest x-ray (this X-ray must be taken within 24 hrs of donor's death.)
Item
Infiltrates on the last chest x-ray (this X-ray must be taken within 24 hrs of donor's death.)
boolean
C0239018 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C1301931 (UMLS CUI [1,4])
Fever >38.2°C (100.7°F) within 24 hrs of donor' demise
Item
Fever >38.2°C (100.7°F) within 24 hrs of donor' demise
boolean
C0015967 (UMLS CUI [1,1])
C0449238 (UMLS CUI [1,2])
C0332152 (UMLS CUI [1,3])
C0011065 (UMLS CUI [1,4])
Lungs harvested >60 min after donor's demise
Item
Lungs harvested >60 min after donor's demise
boolean
C0396602 (UMLS CUI [1,1])
C0687676 (UMLS CUI [1,2])
C0011065 (UMLS CUI [1,3])
C0449238 (UMLS CUI [1,4])
*Case inclusion criteria* <ol type="1">
Item
*Case inclusion criteria* <ol type="1">
boolean
C1512693 (UMLS CUI [1,1])
C1706256 (UMLS CUI [1,2])
Diagnosis of idiopathic or familial pulmonary arterial hypertension
Item
Diagnosis of idiopathic or familial pulmonary arterial hypertension
boolean
C0011900 (UMLS CUI [1,1])
C3203102 (UMLS CUI [1,2])
C1701939 (UMLS CUI [1,3])
Consent for donation
Item
Consent for donation
boolean
C0021430 (UMLS CUI [1,1])
C1318453 (UMLS CUI [1,2])
Age 18-65 years
Item
Age 18-65 years
boolean
C0001779 (UMLS CUI [1,1])
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