ID
45190
Description
Principal Investigator: Dawood Darbar, MD, Vanderbilt University, Nashville, TN, USA MeSH: Atrial Fibrillation,Atrial fibrillation, familial 1 https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000362 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. Large epidemiological studies have demonstrated a significant heritable component in atrial fibrillation (AF), especially the Lone forms, suggesting a monogenic syndrome. Although substantial genetic contribution has been made to the etiology of AF, the specific genes have not yet been identified. The familial form of this disease remains poorly characterized and largely undetermined. Here we seek to identify, characterize and determine the natural course of AF in our clinical practice. We identified four large multi-generation families (FAF 1-4). In FAF 1-2, most family members have symptomatic paroxysmal Atrial Fibrillation (AF) and were adequately treated with a combination of rate and rhythm therapies. By contrast, the AF substrate in FAF 3 and 4 was resistant to anti-arrhythmic drugs and ablation therapies.
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Versions (2)
- 19/08/2022 19/08/2022 - Simon Heim
- 12/10/2022 12/10/2022 - Adrian Schulz
Détendeur de droits
Dawood Darbar, MD, Vanderbilt University, Nashville, TN, USA
Téléchargé le
12 octobre 2022
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs000362 NHLBI GO-ESP: Family Studies: (Familial Atrial Fibrillation)
Sample ID, body site where samples were obtained, analyte type, tumor status, and histological type of samples obtained from subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- Family ID, subject ID, mother ID, father ID, and sex of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- Subject ID, sample ID, sample source, and sample source ID of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project
- Subject ID, age, sex, and race of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- Sample ID, body site where samples were obtained, analyte type, tumor status, and histological type of samples obtained from subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
Similar models
Sample ID, body site where samples were obtained, analyte type, tumor status, and histological type of samples obtained from subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID, consent group, subject source, subject source ID, and affection status of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- Family ID, subject ID, mother ID, father ID, and sex of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- Subject ID, sample ID, sample source, and sample source ID of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project
- Subject ID, age, sex, and race of subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
- Sample ID, body site where samples were obtained, analyte type, tumor status, and histological type of samples obtained from subjects with or without atrial fibrillation and involved in the "NHLBI GO-ESP: Family Studies (Familial Atrial Fibrillation)" project.
C1299222 (UMLS CUI [1,2])