ID
45186
Description
Principal Investigator: James E. Loyd, MD, Vanderbilt University , Nashville, TN, USA MeSH: Hypertension, Pulmonary https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000354 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. Pulmonary arterial hypertension (PAH) is a progressive disease characterized by widespread occlusion of the smallest arteries of the lungs. Pulmonary vascular obstruction leads to increased pulmonary vascular resistance, which subsequently causes heart failure with mean survival of 3 years. PAH occurs at all ages and affects women more than twice as frequently as men. Sporadic Idiopathic pulmonary arterial hypertension (IPAH), comprises 94% of what was formerly known as primary pulmonary hypertension, and is clinically and pathologically indistinguishable from familial PAH (FPAH). Most FPAH is due to mutation in BMPR2, including more than 120 families in the US. Our goal here is to find other genes that are a basis for FPAH, so we selected for exome sequencing 5 families among 40 who do not have mutation in BMPR2, or other known genes (ACVRL1, SMAD8, ENG) that rarely are the basis for FPAH.
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Versions (2)
- 8/19/22 8/19/22 - Simon Heim
- 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder
James E. Loyd, MD, Vanderbilt University , Nashville, TN, USA
Uploaded on
October 12, 2022
DOI
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License
Creative Commons BY 4.0
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dbGaP phs000354 NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Family ID, subject ID, mother ID, father ID, and sex of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Subject ID, sample ID, and sample use variable of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Subject ID, de-identified ID used in laboratory, de-identified subject ID, disease phenotype, and race of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Sample ID, body site where sample was collected, analyte type, tumor status, and histological type of samples obtained from of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
Similar models
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Family ID, subject ID, mother ID, father ID, and sex of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Subject ID, sample ID, and sample use variable of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Subject ID, de-identified ID used in laboratory, de-identified subject ID, disease phenotype, and race of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
- Sample ID, body site where sample was collected, analyte type, tumor status, and histological type of samples obtained from of participants with or without pulmonary arterial hypertension and involved in the "NHLBI GO-ESP Family Studies: Pulmonary Arterial Hypertension" study.
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