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dbGaP phs000906 eMERGE Network PGx Cohort - pht007150.v1.p1

- 2024-04-06 - 7 Formulär, 1 Item-grupp, 2 Dataelement, 1 Språk
Item-grupp: pht007150
Principal Investigator: Isaac Kohane, Boston Children's Hospital, Boston, MA, USA MeSH: Pharmacogenetics,Atrial Fibrillation,Attention Deficit Disorder with Hyperactivity,Cardiovascular Diseases,Epilepsy,Heart Failure,Hypertension,Malignant Hyperthermia,Long QT Syndrome,Atomoxetine,Clopidogrel,Methylphenidate,Simvastatin,Warfarin,Hydroxymethylglutaryl-CoA Reductase Inhibitors https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000906 eMERGE-PGx is a multi-site test of the concept that sequence information can be coupled to electronic medical records (EMRs) for use in healthcare. The promise of personalized medicine - health care guided by each individual's biological characteristics - is being fostered by increasingly powerful and economical methods to acquire clinically relevant biomarkers from large numbers of people. One therapeutic area that seems especially ripe for an early test of the personalized medicine concept is pharmacogenomics (PGx) - the idea that individual variation in drug response includes a genomic component. Drug response variation is an accepted feature of virtually all drug treatments, and contemporary molecular biologic tools continue to identify key genes mediating drug metabolism, transport, and targets. Importantly, common variation in these genes is an increasingly well-recognized contributor, sometimes with large effects, to variation in drug responses. As a result, recommendations for genotype-guided therapy are increasing. These evidence-based recommendations, if implemented in health care practice, could reduce adverse drug events and improve time to therapeutic response. Through eMERGE-PGx, we are developing strategies for the optimal implementation of genetic sequence data into the clinical environment with the ultimate goal of improving patient care. *Site and participants include*: *Children's Hospital of Pennsylvania (CHOP)*: The Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP) is a high-throughput, highly automated genotyping and sequencing facility equipped with state-of-the-art genotyping and sequencing platforms. Children who are treated at the Children's Hospital Healthcare Network and their parents may be eligible to take part in a major initiative to collect more than 100,000 blood samples, covering a wide range of pediatric diseases. The PGx population selected for sequencing with the PGRNseq panel at CHOP is 1,650 children from CAG's biorepository with well-documented drug-related severe adverse events (SAEs) or EHR-based drug response profiles. SAEs were extracted from EPIC records and from CHOP's Adverse Event (AE) database, which documents every AE at CHOP. These AEs are classified by a medical review panel according to the causal relationship with the suspected drug into 'doubtful', 'possible', and 'probable'. Individuals with events classified as probable, severe and objective, were selected for sequencing. The drugs more frequently associated with adverse events are antibiotics, antineoplastics, immunosuppressants and psychotropic drugs. This cohort constitutes 50% of the target population. The remaining subjects were selected using EHR-based algorithms that we have developed and validated at CAG for identifying patients not responding to ADHD medication (primarily atomoxetine) and patients refractory to antiepileptic treatment from responders. *Cincinnati Children's Hospital Medical Center/Boston's Children's Hospital (CCHMC/BCH)*: 811 CCHMC samples were obtained from children, adolescents or young adults exposed to medication or at risk for needing medication of study interest. 55% of participants were exposed to one or more opioids and their DNA source was a CCHMC study-specific biobank; while 27% of participants were at risk for needing an opioid for surgical pain management and were newly recruited. The remainder of the cohort was exposed to methylphenidate and their DNA samples were obtained from a CCHMC study-specific biobank. The focus of Boston Children's Hospital eMERGE PGx project is on individuals with epilepsy. Samples were taken from a current pharmacogenomics study already in place through which DMET analysis was run and used as confirmation for PGRN-Seq results. A total of 109 samples were sent for PGRN-Seq analysis at University of Washington. The remaining 141 epilepsy samples were from Children's Hospital of Philadelphia and underwent testing with PGRN-Seq at CHOP. *Geisinger Health System*: A research cohort of adult Geisinger Clinic patients was enrolled from community-based primary care clinics of the Geisinger Health System. Patients were eligible for enrollment if they were a primary care patient of a Geisinger Clinic physician and were scheduled for a non-emergent clinic visit. All data are from Geisinger patients who consent to participate in the MyCode project. MyCode participants agree to provide biological samples for broad research use, including genomic analysis, and for linking of sample data to information in the participant's Geisinger health record. The consent also permits sharing of de-identified data for research purposes. *Group Health(GH)/University of Washington (UW)*: Potential GH participants for the PGx project were enrolled in the eMERGE Network through the Northwest Institute of Genetic Medicine (NWIGM) biorepository, and provided the appropriate consent to receive clinically relevant genetic results (N~6300). Participants were eligible if aged 50 - 65 years old at the time of their enrollment into the NWIGM repository, living, enrolled in GH's integrated group practice, and had completed an online Health Risk Appraisal. The selection algorithm was based on several data sources from the EHR at Group Health: 1. Demographics - participants with self-reported race as Asian or African ancestry were prioritized and selected to enrich for non-European ancestry; 2. Diagnosis and procedure codes - participants were selected if found to have a history of hypertension, atrial fibrillation (AF,) or congestive heart failure (CHF). Participants with a history of arrhythmia were added if the entire selection algorithm did not generate 900 individuals. We also enriched for participants with EHR evidence of actionable indications related to PGRNSeq genes. Participants were selected if found to have an ICD9 code for malignant hyperthermia, hypertension, atrial fibrillation, congestive heart failure or long QT syndrome (LQTS); 3. Laboratory values - if a participant had any laboratory event of creatine kinase (CK) 1000, and were dispensed statins within 6 months of the event, then they were selected; and 4. Medications - participants were excluded if ever on carbamazepine or had a current regimen of warfarin. *Essentia Institute of Rural Health, Marshfield Clinic, Pennsylvania State University (Marshfield)*: For this study, 750 subjects were selected and enrolled into PGx based on Vanderbilt's algorithm designed to enrich for patients who are most likely to receive one of three common drugs (Clopidogrel, Warfarin or Simvastatin) in the next 2-3 years. These patients were sent a letter of invitation and description of the PGx project. Follow-up phone calls were made, and interested subjects came in for a one time meeting to discuss the project and go through the informed consent with the research coordinator. If they were interested they signed the consent and HIPAA forms and gave blood. Subjects were chosen and enrolled into PGx independently of previous biobank participation. *Mayo Clinic*: The Right Drug, Right Dose, Right Time - Using Genomic Data to Individualize Treatment (The RIGHT Protocol) enrolled 1013 patients to test the hypothesis that prescribers could deliver genome-guided drug therapy at the point-of-care by using pharmacogenomic data preemptively integrated in the electronic medical record. Complete details regarding the study population have been previously described (Bielinski et al., 2014). *Icahn School of Medicine at Mount Sinai School (Mt Sinai)*: Our study site is the Primary Care Associates (PCA) practice group of the Mount Sinai Faculty Practice Associates (FPA) of the Mount Sinai Medical Center in New York City. This practice has 12 physician providers. All patient encounters are documented and managed with EpicCare ambulatory electronic medical record. Active PCA Patients eligible for enrollment fulfilled the following criteria: a) age 50 or older receiving clinical care at Mount Sinai FPA PCA practice with at least one practice encounter within 18 months prior to commencement of enrollment; b) no history or current use of clopidogrel, warfarin, or simvastatin. Eligible patients were invited to participate through *de novo* recruitment by letter sent by their provider. Interested patients were screened for eligibility and enrolled to participate in the eMERGE PGX study on site by a dedicated research coordinator. In addition to *de novo* enrollment from clinical practice, patients of FPA PCA who had previously enrolled in Mount Sinai's BioMe Biobank program AND fulfilled eligibility criteria as stated under a) and b) were identified by chart review and samples sequenced at CIDR using PGRNseq platform (N=300). PGRNseq data from 291 samples passed stringent quality control and are included in the current data set. Furthermore, 56 of these patients carrying known and validated 'actionable' variants affecting prescribing of clopidogrel, warfarin, and/or simvastatin were enrolled in the eMERGE PGX study following invitation through recontacting by the Principal Investigator of the BioMe Program. *Northwestern University*: Participants for this study were recruited from the General Internal Medicine (GIM) clinic at Northwestern Medical Group (NMG). Patients were selected for invitation to participate if they had been seen a minimum of two times over the last four years, having a high likelihood to receive a prescription for warfarin, Plavix, or a statin, and are seeing a physician who has agreed to allow their patients to be contacted for the study. We utilized an algorithm developed at Vanderbilt and tailored to our population which uses our EHR to estimate the probability that individuals will receive a prescription for warfarin, Plavix, or a statin in the next three years. Participants were sent a letter explaining the study prior to their GIM appointment and offered participation at the time of their visit. Participants were consented on-site and blood drawn after consent was obtained. The GIM clinic consists of 39 primary care physicians who provide approximately 80,000 patient encounters per year. As with any large primary care clinic, a significant proportion of patients in GIM clinic suffer from a variety of chronic health conditions, such as diabetes, hypertension, and coronary artery disease. Over 50,000 individuals have been seen by GIM doctors in the past 5 years; 11,562 of these patients have evidence of a statin prescription in the EHR, 3,436 have evidence of a warfarin prescription, and 1,872 have evidence of a Plavix prescription. *Vanderbilt University*: The more than 1000 participants enrolled into Vanderbilt's eMERGE PGx study were newly recruited from the Cardiology and Internal Medicine Clinics and the Hillsboro Medical Group within Vanderbilt University Medical Center (VUMC). Patients were selected based on a predictive algorithm estimating the patient's likelihood of receiving Clopidogrel, Warfarin, and/or Simvastatin. The algorithm identifies primarily older middle-aged patients, and the mean age of the study group is 74. The cohort is approximately 45% female with 75% of subjects self-identified as EA and 24% as AA. Subjects were consented in person by study personnel following a routine clinic visit and an introduction to the study staff by their doctor. VUMC is a comprehensive health care facility dedicated to patient care, research, and the education of health care professionals. Translational research into the causes and treatment of disease as well as studying fundamental biological properties is the primary focus of discovery at Vanderbilt. Clinical research is conducted in Vanderbilt University Hospital, the Nashville Veterans Administration Hospital, Meharry General Hospital and in their associated outpatient clinics. These hospitals and clinics, all associated with the Vanderbilt system, each have full time Vanderbilt faculty and medical housestaff and provide clinical care and participate in research programs. The Vanderbilt Clinic is comprised of more than 95 adult outpatient specialty practices and received over 1.5 million ambulatory visits in 2012-13. The Vanderbilt Heart and Vascular Institute offers a comprehensive heart program offering diagnosis, medical treatment, minimally invasive therapies, surgical intervention and disease management, tailored to each individual's unique needs. All programs within the Vanderbilt Clinic have survival figures that surpass the national average.

pht007144.v1.p1

1 Item-grupp 4 Dataelement

pht007145.v1.p1

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pht007146.v1.p1

1 Item-grupp 6 Dataelement

pht007147.v1.p1

1 Item-grupp 8 Dataelement

pht007148.v1.p1

1 Item-grupp 8 Dataelement

pht007149.v1.p1

1 Item-grupp 9 Dataelement

dbGaP phs000974 NHLBI TOPMed: Whole Genome Sequencing and Related Phenotypes in the Framingham Heart Study - Eligibility

- 2023-12-01 - 4 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Vasan Ramachandran, Department of Medicine, Boston University School of Medicine, Boston, MA, USA MeSH: Cardiovascular Diseases,Atherosclerosis,Atrial Fibrillation,Death, Sudden, Cardiac,Diabetes Mellitus, Type 2,Heart Failure,Blood Pressure,Hypertension,Body Mass Index,Adiposity,Lipids,Pulmonary Disease, Chronic Obstructive,Renal Insufficiency, Chronic,Stroke,Osteoporosis,Risk Factors,Biological Markers,Biomarkers, Pharmacological https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000974 The Framingham Heart Study (FHS) is a prospective cohort study of 3 generations of subjects who have been followed up to 65 years to evaluate risk factors for cardiovascular disease. Its large sample of ~15,000 men and women who have been extensively phenotyped with repeated examinations make it ideal for the study of genetic associations with cardiovascular disease risk factors and outcomes. DNA samples have been collected and immortalized since the mid-1990s and are available on ~8000 study participants in 1037 families. These samples have been used for collection of GWAS array data and exome chip data in nearly all with DNA samples, and for targeted sequencing, deep exome sequencing and light coverage whole genome sequencing in limited numbers. Additionally, mRNA and miRNA expression data, DNA methylation data, metabolomics and other 'omics data are available on a sizable portion of study participants. This project will focus on deep whole genome sequencing (mean 30X coverage) in ~4100 subjects and imputed to all with GWAS array data to more fully understand the genetic contributions to cardiovascular, lung, blood and sleep disorders. Comprehensive phenotypic and pedigree data for study participants are available through dbGaP phs000007.

pht004909.v3.p3

1 Item-grupp 2 Dataelement

pht004910.v4.p3

1 Item-grupp 2 Dataelement

pht004911.v3.p3

1 Item-grupp 9 Dataelement

dbGaP phs000993 NHLBI TOPMed: Heart and Vascular Health Study (HVH) - Eligibility

- 2023-11-25 - 4 Formulär, 1 Item-grupp, 2 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Susan R. Heckbert, MD, PhD, University of Washington, Seattle, WA, USA MeSH: Cardiovascular Disease,Venous Thrombosis,Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000993 *Objectives*br The Heart and Vascular Health Study (HVH) is a case-control study of risk factors for the development of myocardial infarction (MI), stroke, venous thrombosis (VT), and atrial fibrillation (AF). The study setting is Group Health, an integrated health care delivery system in Washington State. Only VT cases and early-onset AF cases are included as part of TOPMed. *Background*br The HVH study originated in 1988 with the examination of risk factors for MI. Over the ensuing years, the study has been funded by a series of grants which have added case subjects with stroke, VT, and AF. Study aims focused on the associations of medication use with cardiovascular events, and starting in 1997, the study aims expanded to include genetic associations with cardiovascular disease. Participants recruited in 2009 or later who provided blood samples for genetic analysis were asked for consent to deposit genetic and phenotypic data in dbGaP. *Design*br As part of the HVH study, case subjects were identified by searching for ICD-9 codes consistent with MI, stroke, VT, or AF, and medical records were reviewed to confirm the diagnosis. Control subjects were identified at random from the Group Health enrollment and were matched to MI cases. All subjects have an index date. For cases, the index date was assigned as the date that the cardiovascular event (MI, stroke, VT, or AF) came to clinical attention. For controls, the index date was a random date within the range of the case index dates. For both cases and controls, information was collected from the inpatient and outpatient medical record, by telephone interview with consenting survivors, and from the Group Health pharmacy and laboratory databases. Consenting participants provided a blood specimen. *Subjects*br Only VT and early-onset AF cases from HVH are included in TOPMed. Within the HVH study, VT and AF cases were diagnosed in both inpatient and outpatient settings, and only incident cases are eligible for inclusion in TOPMed. *Genetic Research*br Genetic factors underlying cardiovascular disease are studied using DNA isolated from the blood samples. Phenotype data for HVH study participants are available through dbGaP phs001013.

pht005014.v3.p2

1 Item-grupp 2 Dataelement

pht005013.v2.p2

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pht005015.v2.p2

1 Item-grupp 9 Dataelement

dbGaP phs000997 NHLBI TOPMed - NHGRI CCDG: The Vanderbilt AF Ablation Registry - Eligibility

- 2023-11-13 - 5 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: M. Benjamin Shoemaker, MD, Vanderbilt University, Nashville, TN,USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000997 The Vanderbilt Atrial Fibrillation Ablation Registry (VAFAR) was founded in 2011. Patients with AF referred for AF ablation are prospectively enrolled. A detailed clinical history is recorded, along with imaging data (cardiac MRI or CT). Blood samples are obtained for DNA extraction at the time of ablation. Details of the ablation procedure are recorded. Patients are longitudinally followed to monitor for AF recurrence. VAFAR contributed 171 samples submitted to dbGaP for WGS: 115 were from male subjects, of which 113 were white/non-Hispanic and 2 were Hispanic; 56 were from females, of which all 56 were white/non-Hispanic.

pht005087.v3.p2

1 Item-grupp 3 Dataelement

pht005088.v3.p2

1 Item-grupp 2 Dataelement

pht005089.v4.p2

1 Item-grupp 9 Dataelement

pht005688.v3.p2

1 Item-grupp 17 Dataelement

dbGaP phs001001 MGH Atrial Fibrillation Study - pht005657.v1.p1

- 2023-10-27 - 8 Formulär, 1 Item-grupp, 4 Dataelement, 1 Språk
Item-grupp: pht005657
Principal Investigator: Patrick Ellinor, MD, PhD, Massachusetts General Hospital, Boston, MA, USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001001 The Massachusetts General Hospital (MGH) Atrial Fibrillation Study was initiated in 2001. The study has enrolled serial probands, unaffected and affected family members with atrial fibrillation. At enrollment participants undergo a structured interview to systematically capture their past medical history, AF treatments, and family history. An electrocardiogram is performed; the results of an echocardiogram are obtained; and blood samples are obtained. *The Massachusetts General Hospital (MGH) Atrial Fibrillation Study is utilized in the following dbGaP substudies.* To view genotypes, analysis, other molecular data, and derived variables collected in these substudies, please click on the following substudies below or in the "Substudies" box located on the right hand side of this top-level study page phs001001 Massachusetts General Hospital (MGH) Atrial Fibrillation Study.- phs001116 MGH AF CHARGE-S - phs001117 MGH AF Exome Sequencing - phs001118 MGH AF Medical Resequencing

pht005653.v1.p1

1 Item-grupp 5 Dataelement

pht005655.v1.p1

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pht005656.v1.p1

1 Item-grupp 4 Dataelement

pht005674.v1.p1

1 Item-grupp 4 Dataelement

pht007525.v1.p1

1 Item-grupp 5 Dataelement

Eligibility

1 Item-grupp 1 Dataelement

dbGaP phs001024 NHLBI TOPMed: Partners HealthCare Biobank - pht005116.v2.p1

- 2023-10-09 - 5 Formulär, 1 Item-grupp, 5 Dataelement, 1 Språk
Item-grupp: pht005116
Principal Investigator: Patrick Ellinor, MD, PhD, Massachusetts General Hospital, Boston, MA, USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001024 The Atrial Fibrillation Genetics Consortium (AFGen) was organized to identify common and rare genetic variation associated with atrial fibrillation risk. In the current study, we have performed whole genome sequencing in cases with early-onset atrial fibrillation. Samples in this study were enrolled as a part of the Partners HealthCare Biobank. Cases with early-onset atrial fibrillation were identified from the Biobank (defined as atrial fibrillation onset prior to 61 years and in the absence of structural heart disease).

pht005117.v2.p1

1 Item-grupp 2 Dataelement

pht005118.v2.p1

1 Item-grupp 9 Dataelement

pht005693.v1.p1

1 Item-grupp 16 Dataelement

Eligibility

1 Item-grupp 1 Dataelement

dbGaP phs001032 NHLBI TOPMed: The Vanderbilt Atrial Fibrillation Registry (VU_AF) - pht005098.v2.p2

- 2023-08-15 - 6 Formulär, 1 Item-grupp, 5 Dataelement, 1 Språk
Item-grupp: pht005098
Principal Investigator: Dan Roden, MD, Vanderbilt University, Nashville, TN,USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001032 The Vanderbilt Atrial Fibrillation (AF) Registry was founded in 2001. Patients with AF and family members are prospectively enrolled. At enrollment a detailed past medical history is obtained along with an AF symptom severity assessment. Blood samples are obtained for DNA extraction. Patients are followed longitudinally along with serial collection of AF symptom severity assessments.

pht005099.v3.p2

1 Item-grupp 2 Dataelement

pht005100.v2.p2

1 Item-grupp 9 Dataelement

pht005675.v3.p2

1 Item-grupp 17 Dataelement

pht007135.v1.p2

1 Item-grupp 5 Dataelement

Eligibility

1 Item-grupp 1 Dataelement

dbGaP phs001040 NHLBI TOPMed: Novel Risk Factors for the Development of Atrial Fibrillation in Women - Eligibility

- 2023-07-29 - 5 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Christine M. Albert, MD, MPH, Brigham and Women's Hospital, Boston, MA, USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001040 The Women's Genome Health Study (WGHS) is a prospective cohort comprised of over 25,000 initially healthy female health professionals enrolled in the Women's Health Study, which began in 1992-1994. All participants in WGHS provided baseline blood samples and extensive survey data. Women who reported atrial fibrillation during the course of the study were asked to report diagnoses of AF at baseline, 48 months, and then annually thereafter. Participants enrolled in the continued observational follow-up who reported an incident AF event on at least one yearly questionnaire were sent an additional questionnaire to confirm the episode and to collect additional information. They were also asked for permission to review their medical records, particularly available ECGs, rhythm strips, 24-hour ECGs, and information on cardiac structure and function. For all deceased participants who reported AF during the trial and extended follow-up period, family members were contacted to obtain consent and additional relevant information. An end-point committee of physicians reviewed medical records for reported events according to predefined criteria. An incident AF event was confirmed if there was ECG evidence of AF or if a medical report clearly indicated a personal history of AF. The earliest date in the medical records when documentation was believed to have occurred was set as the date of onset of AF.

pht005204.v3.p1

1 Item-grupp 2 Dataelement

pht005205.v2.p1

1 Item-grupp 9 Dataelement

pht005682.v3.p1

1 Item-grupp 45 Dataelement

pht005203.v2.p1

1 Item-grupp 5 Dataelement

dbGaP phs001062 NHLBI TOPMed - NHGRI CCDG: Massachusetts General Hospital (MGH) Atrial Fibrillation Study - Eligibility

- 2023-06-23 - 4 Formulär, 1 Item-grupp, 1 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Patrick Ellinor, MD, PhD, Massachusetts General Hospital, Boston, MA, USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001062 The Massachusetts General Hospital (MGH) Atrial Fibrillation Study was initiated in 2001. The study has enrolled serial probands, unaffected and affected family members with atrial fibrillation. At enrollment participants undergo a structured interview to systematically capture their past medical history, AF treatments, and family history. An electrocardiogram is performed; the results of an echocardiogram are obtained; and blood samples are obtained. For the TOPMed WGS project only early-onset atrial fibrillation cases were sequenced. Early-onset atrial fibrillation was defined as an age of onset prior to 66 years of age. Comprehensive phenotypic and pedigree data for study participants are available through dbGaP phs001001.

pht005261.v3.p2

1 Item-grupp 5 Dataelement

pht005262.v4.p2

1 Item-grupp 2 Dataelement

pht005263.v3.p2

1 Item-grupp 9 Dataelement

dbGaP phs001211 NHLBI TOPMed - NHGRI CCDG: Atherosclerosis Risk in Communities (ARIC) - Eligibility

- 2023-05-17 - 4 Formulär, 1 Item-grupp, 5 Dataelement, 1 Språk
Item-grupp: IG.elig
Principal Investigator: Eric Boerwinkle, PhD, Human Genetics Center, University of Texas Health Science Center at Houston, Houston, TX, USA MeSH: Cardiovascular Diseases,Thromboembolism,Venous Thromboembolism,Arrhythmias, Cardiac,Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001211 Participants from the Atherosclerosis Risk in Communities (ARIC) Study, a large population-based longitudinal cohort study, have been included in this Project and whole genome sequencing will be performed to contribute to analyses of early-onset atrial fibrillation and venous thromboembolism. Additional phenotype and genotype data are available for these individuals on dbGaP and can be accessed through the parent ARIC Cohort accession (phs000280). The National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so, this program seeks to uncover factors that increase or decrease the risk of disease, identify subtypes of disease, and develop more targeted and personalized treatments. The Whole Genome Sequencing (WGS) Project is part of NHLBI's TOPMed program and serves as an initial step for the larger initiative.

pht005755.v4.p3

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pht005757.v3.p3

1 Item-grupp 12 Dataelement

pht005754.v4.p3

1 Item-grupp 4 Dataelement

dbGaP phs000439 PGRN-RIKEN: Rate Control Therapy in Patients with Atrial Fibrillation - pht002930.v1.p1

- 2022-10-12 - 4 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: pht002930
Principal Investigator: Dawood Darbar, MD, PhD, Vanderbilt University Medical Center, Nashville, TN, USA MeSH: Atrial Fibrillation https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000439 The goal of this study was to identify genetic predictors of response to rate control therapy in patients with AF. We conducted a genome-wide association study (GWAS) focusing on subjects with a history of atrial fibrillation. Rate control therapy for AF uses a range of drugs (beta-adrenergic receptor blockers, calcium channel blockers, and digitalis) to depress conduction through the AV node, thereby preventing rapid rates and minimizing symptoms. In large groups of patients, such as the Vanderbilt AF Registry (a clinical and genetic repository with over 1200 patients with ECG-confirmed AF) from which these study subjects were drawn, approximately 5% display failure of aggressive AV nodal-blocking therapy to control ventricular rate. In these patients, interruption of the AV node by ablation and pacemaker implantation are necessary for adequate rate control. Study cases were individuals who underwent AV node ablation and pacemaker implantation after combined therapy with 3 AV nodal-blocking agents was ineffective in rate control. Controls for this study were individuals who met standardized rate-control efficacy criteria (as described in AFFIRM study, Wyse et al, NEJM 2002; PMID: 12466506) for optimal rate control with 2 or fewer AV nodal-blocking agents. Two additional groups were genotyped by RIKEN: An additional group of patients with AF as well as subjects undergoing cardiac surgery in whom AF did not occur post-operatively. All study participants were recruited and treated/evaluated at Vanderbilt University Medical Center. This study was conducted by the Pharmacogenomics of Arrhythmia Therapy subgroup of the Pharmacogenetics Research Network, a nationwide collaboration of scientists studying the genetic contributions to drug response variability. Genotyping was performed by the RIKEN research institute in Japan using the Illumina 610 Quad Beadchip platform.

pht002931.v1.p1

1 Item-grupp 3 Dataelement

pht002932.v1.p1

1 Item-grupp 11 Dataelement

Eligibility

1 Item-grupp 5 Dataelement

dbGaP phs000362 NHLBI GO-ESP: Family Studies: (Familial Atrial Fibrillation) - Eligibility

- 2022-10-12 - 6 Formulär, 1 Item-grupp, 3 Dataelement, 1 Språk
Item-grupp: IG.elig
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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1 Item-grupp 5 Dataelement

pht003228.v1.p1

1 Item-grupp 5 Dataelement

pht003229.v1.p1

1 Item-grupp 5 Dataelement

pht003231.v1.p1

1 Item-grupp 5 Dataelement

pht003230.v1.p1

1 Item-grupp 4 Dataelement

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