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DZHK Data Catalogue - Laboratory

- 2022-06-08 - 1 Formulário, 4 Grupos de itens, 68 Elementos de dados, 2 Idiomas

Grupos de itens: EDTA blood for Haematology and HbA1c, Serum and heparin plasma for clinical chemistry, Citrate Plasma (Coagulation), Urinalysis

With permission from the DZHK Main Office and Transfer Office, we present the DZHK Data Catalogue: The DZHK (Deutsches Zentrum für Herz-Kreislauf-Forschung e.V.; German Center for Cardiovascular Research) is a joint cooperation of twenty-eight institutions in seven locations throughout Germany and develop new therapies and diagnostic procedures that have an impact on the lives of people suffering from cardiovascular diseases. (https://dzhk.de/dzhk-heart-bank) They developed a data catalogue that contains a detailed description of the data and biospecimen collected in their clinical studies, including the associated metadata, shown on their DZHK Heart Bank website (https://dzhk.de/en/dzhk-heart-bank/data-and-biospecimens/resource-with-liquid-samples-and-image-data/data-catalogue/). The version shown here contains the metadata part only. The form Laboratory is used to document different measurement parameters of laboratory examinations. The documentation of clinical data has to be performed according to the DZHK's SOPs, which can be accessed at https://service4studies.dzhk.de/studienzentren/klinische-daten/. For more informations or to request data and/or biospecimens please visit the DZHK Heart Bank.

ACCF/AHA 2011 Key Data Elements and Definitions of a Base Cardiovascular Vocabulary for Electronic Health Records - Key Data Elements

- 2021-06-25 - 1 Formulário, 11 Grupos de itens, 110 Elementos de dados, 2 Idiomas

Grupos de itens: History and Physical Examination Elements, Patient History, Family History, Patient Assessment, Laboratory Results Elements, Diagnostic and Therapeutic Procedures Elements, Diagnostic Procedure Results, Therapeutic Procedures, Therapeutic Procedure Device Implants, Pharmacological Therapy Data Elements, Outcomes Data Elements

http://circ.ahajournals.org/content/124/1/103.full

dbGaP phs000925 PAGE: IPM BioMe Biobank - Eligibility

- 2024-04-28 - 5 Formulários, 1 Grupo de itens, 1 Elemento de dados, 1 Idioma

Grupo de itens: IG.elig

Principal Investigator: Ruth Loos, PhD, The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA MeSH: Cardiovascular Diseases,Obesity,Diabetes Mellitus, Type 2,Glucose,Kidney Failure, Chronic,Cholesterol, HDL,Cholesterol, LDL,Triglycerides,Coronary Disease,Myocardial Infarction,Inflammation,Stroke,Body Height https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000925 The Institute for Personalized Medicine (IPM) Bio*Me* Biobank is a consented, EMR-linked medical care setting biorepository of the Mount Sinai Medical Center (MSMC) drawing from a population of over 70,000 inpatients and 800,000 outpatient visits annually. MSMC serves diverse local communities of upper Manhattan, including Central Harlem (86% African American), East Harlem (88% Hispanic Latino), and Upper East Side (88% Caucasian/white) with broad health disparities. IPM Bio*Me* Biobank populations include 28% African American, 38% Hispanic Latino predominantly of Caribbean origin, 23% Caucasian/White. IPM BioMe Biobank disease burden is reflective of health disparities with broad public health impact. Biobank operations are fully integrated in clinical care processes, including direct recruitment from clinical sites waiting areas and phlebotomy stations by dedicated Biobank recruiters independent of clinical care providers, prior to or following a clinician standard of care visit. Recruitment currently occurs at a broad spectrum of over 30 clinical care sites. This study is part of the Population Architecture using Genomics and Epidemiology (PAGE) study (phs000356).

pht005176.v1.p1

1 Grupo de itens 4 Elementos de dados

pht005178.v1.p1

1 Grupo de itens 6 Elementos de dados

pht006203.v1.p1

1 Grupo de itens 6 Elementos de dados

pht005177.v1.p1

1 Grupo de itens 5 Elementos de dados

dbGaP phs000924 NextGen Consortium: The iPSCORE (iPSC Collection for Omic Research) Resource - Eligibility

- 2024-04-28 - 6 Formulários, 1 Grupo de itens, 1 Elemento de dados, 1 Idioma

Grupo de itens: IG.elig

Principal Investigator: Kelly Frazer, PhD, University of California San Diego, CA, USA MeSH: Heart Diseases,Cardiovascular Diseases,Healthy Volunteers https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000924 The iPSCORE Resource of human induced pluripotent stem cells (hiPSCs) was created as part of the Next-Gen Consortium funded by the NHLBI. The overarching purpose of the iPSCORE Resource is to provide a large collection of hiPSCs for use in studying the impact of genetic variation on molecular and physiological phenotypes. This Resource is being used in a number of ongoing studies for which genomic data will be generated and deposited into public repositories and linked through dbGaP. A total of 273 individuals have participated in the study for which 222 have had hiPSCs generated from fibroblasts (available through WiCell (http://www.wicell.org/)). Of the 273 individuals, 181 are part of 55 families that include 24 monozygotic twin pairs and 5 dizygotic twin pairs, allowing for the incorporation of familial relationships into genetic analyses. Germline DNA has been sequenced from blood or fibroblast samples for all 273 individuals (see phs001325) and other genomic data (RNA-seq, DNA methylation, and genotype arrays) has been generated from the 222 hiPSCs derived from a subset of these individuals (phs000924). Current studies include differentiation of these hiPSCs to other cell types, including cardiomyocytes and retinal pigment epithelium, and the generation of additional genomic data.

pht006320.v3.p1

1 Grupo de itens 3 Elementos de dados

pht006321.v1.p1

1 Grupo de itens 7 Elementos de dados

pht006322.v4.p1

1 Grupo de itens 2 Elementos de dados

pht006323.v2.p1

1 Grupo de itens 22 Elementos de dados

pht006324.v4.p1

1 Grupo de itens 31 Elementos de dados

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

- 2024-04-06 - 7 Formulários, 1 Grupo de itens, 2 Elementos de dados, 1 Idioma

Grupo de itens: 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 Grupo de itens 4 Elementos de dados

pht007145.v1.p1

1 Grupo de itens 7 Elementos de dados

pht007146.v1.p1

1 Grupo de itens 6 Elementos de dados

pht007147.v1.p1

1 Grupo de itens 8 Elementos de dados

pht007148.v1.p1

1 Grupo de itens 8 Elementos de dados

pht007149.v1.p1

1 Grupo de itens 9 Elementos de dados

dbGaP phs000956 NHLBI TOPMed: Genetics of Cardiometabolic Health in the Amish - pht005003.v2.p1

- 2024-02-07 - 6 Formulários, 1 Grupo de itens, 10 Elementos de dados, 1 Idioma

Grupo de itens: pht005003

Principal Investigator: Braxton D. Mitchell, PhD, University of Maryland, Baltimore, MD, USA MeSH: Cardiovascular Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000956 The Amish Complex Disease Research Program includes a set of large community-based studies focused largely on cardiometabolic health carried out in the Old Order Amish (OOA) community of Lancaster, Pennsylvania (http://medschool.umaryland.edu/endocrinology/amish/research-program.asp). The OOA population of Lancaster County, PA immigrated to the Colonies from Western Europe in the early 1700's. There are now over 30,000 OOA individuals in the Lancaster area, nearly all of whom can trace their ancestry back 12-14 generations to approximately 700 founders. Investigators at the University of Maryland School of Medicine have been studying the genetic determinants of cardiometabolic health in this population since 1993. To date, over 7,000 Amish adults have participated in one or more of our studies. Due to their ancestral history, the OOA may be enriched for rare variants that arose in the population from a single founder (or small number of founders) and propagated through genetic drift. Many of these variants have large effect sizes and identifying them can lead to new biological insights about health and disease. The parent study for this WGS project provides one (of multiple) examples. In our parent study, we identified through a genome-wide association analysis a haplotype that was highly enriched in the OOA that is associated with very high LDL-cholesterol levels. At the present time, the identity of the causative SNP - and even the implicated gene - is not known because the associated haplotype contains numerous genes, none of which are obvious lipid candidate genes. A major goal of the WGS that will be obtained through the NHLBI TOPMed Consortium will be to identify functional variants that underlie some of the large effect associations observed in this unique population.

Cardiovascular Diseases

pht005768.v2.p1

1 Grupo de itens 7 Elementos de dados

pht005000.v1.p1

1 Grupo de itens 4 Elementos de dados

pht005001.v3.p1

1 Grupo de itens 2 Elementos de dados

pht005002.v1.p1

1 Grupo de itens 51 Elementos de dados

Eligibility

1 Grupo de itens 1 Elemento de dados

dbGaP phs000968 The Cardiopulmonary Effects of Particulate Exposure - Eligibility

- 2024-01-26 - 5 Formulários, 1 Grupo de itens, 2 Elementos de dados, 1 Idioma

Grupo de itens: IG.elig

Principal Investigator: David Christiani, MD, MPH, Harvard T.H. Chan School of Public Health, Boston, MA, USA MeSH: Cardiovascular Disease https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000968 The study was initially designed as a longitudinal cohort study of cardiovascular effects of particulate exposure. Participants were boilermaker construction workers who were exposed to particulate matter (PM) component (e.g. a focus on metal constituents) while performing welding, grinding or cutting work in the welding plants. Participants were followed up approximately half a year for a non-work day and a work day from 1999 to 2012, and blood, urine, blood pressure, as well as real-time PM2.5 samples were collected from each participant. In this specific study, we conducted epigenome-wide DNA methylation profiling through Center for Inherited Disease Research (CIDR) services using Illumina Infinium HumanMethylation450, which will give us more compete epigenome-wide coverage. Genome-wide DNA methylation was carried out on paired samples pre- and post-work shift at a welding apprentice school. With transcriptomic and metabolomic data already generated from the same panel study, we will be able to conduct integrative analysis to gain insights into mechanisms of gene-metal interactions and maximize the probability of finding genes functionally relevant to PM-induced adverse cardiovascular outcomes.

Cardiovascular Diseases

pht004912.v1.p1

1 Grupo de itens 2 Elementos de dados

pht004913.v2.p1

1 Grupo de itens 2 Elementos de dados

pht004914.v1.p1

1 Grupo de itens 10 Elementos de dados

pht004915.v1.p1

1 Grupo de itens 7 Elementos de dados

dbGaP phs000964 NHLBI TOPMed: The Jackson Heart Study (JHS) - Eligibility

- 2024-01-22 - 5 Formulários, 1 Grupo de itens, 1 Elemento de dados, 1 Idioma

Grupo de itens: IG.elig

Principal Investigator: Adolfo Correa, MD, MPH, PhD, Jackson Heart Study, University of Mississippi Medical Center, Jackson, MS, USA MeSH: Cardiovascular Diseases,Hypertension,Diabetes Mellitus https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000964 Since there is a greater prevalence of cardiovascular disease among African Americans, the purpose of the Jackson Heart Study (JHS) is to explore the reasons for this disparity and to uncover new approaches to reduce it. The JHS is a large, community-based, observational study whose 5306 participants were recruited from among the non-institutionalized African-American adults from urban and rural areas of the three counties (Hinds, Madison, and Rankin) that make up the Jackson, MS, metropolitan statistical area (MSA). Jackson is the capital of Mississippi, the state with the largest percentage (36.3%) of African Americans in the United States. The JHS design included participants from the Jackson ARIC study who had originally been recruited through random selection from a drivers' license registry. Approximately six months before the JHS was to begin, an amendment to the federal Driver's Privacy Protection Act was passed that changed the level of consent for public release of personal information from driver's license lists from an "opt out" to an "opt in" basis. The Mississippi Highway Patrol was no longer able to release a complete listing of all persons with driver's licenses or state identification cards, which prevented its use in the JHS. New JHS participants were chosen randomly from the Accudata America commercial listing, which provides householder name, address, zip code, phone number (if available), age group in decades, and family components. The Accudata list was deemed to provide the most complete count of households for individuals aged 55 years and older in the Jackson MSA. A structured volunteer sample was also included in which demographic cells for recruitment were designed to mirror the eligible population. Enrollment was opened to volunteers who met census-derived age, sex, and socioeconomic status (SES) eligibility criteria for the Jackson MSA. In addition, a family component was included in the JHS. The sampling frame for the family study was a participant in any one of the ARlC, random, or volunteer samples whose family size met eligibility requirements. Eligibility included having at least two full siblings and four first degree relatives (parents, siblings, children over the age of 21) who lived in the Jackson MSA and who were willing to participate in the study. No upper age limit was placed on the family sample. Known contact information was obtained during the baseline clinic examination from the index family member with a verbal pedigree format to identify name(s), age(s), address (es), and telephone number(s). Recruitment was limited to persons 35-84 years old except in the family cohort, where those 21 years old and above were eligible. Only persons who otherwise met study criteria but were deemed to be physically or mentally incompetent by trained recruiters were excluded from study eligibility.sup1/sup sup1/sup Wyatt SB, Diekelmann N, Henderson F, Andrew ME, Billingsley G, Felder SH et al. A community-driven model of research participation: the Jackson Heart Study Participant Recruitment and Retention Study. Ethn Dis 2003; 13(4):438-455 (PMID: 14632263).

pht004838.v1.p1

1 Grupo de itens 4 Elementos de dados

pht004839.v3.p1

1 Grupo de itens 2 Elementos de dados

pht004840.v2.p1

1 Grupo de itens 11 Elementos de dados

pht005766.v2.p1

1 Grupo de itens 7 Elementos de dados

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

- 2023-12-01 - 4 Formulários, 1 Grupo de itens, 1 Elemento de dados, 1 Idioma

Grupo de itens: 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 Grupo de itens 2 Elementos de dados

pht004910.v4.p3

1 Grupo de itens 2 Elementos de dados

pht004911.v3.p3

1 Grupo de itens 9 Elementos de dados

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

- 2023-11-25 - 4 Formulários, 1 Grupo de itens, 2 Elementos de dados, 1 Idioma

Grupo de itens: 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 Grupo de itens 2 Elementos de dados

pht005013.v2.p2

1 Grupo de itens 3 Elementos de dados

pht005015.v2.p2

1 Grupo de itens 9 Elementos de dados

dbGaP phs001012 The Diabetes Heart Study (DHS) - Eligibility

- 2023-10-26 - 6 Formulários, 1 Grupo de itens, 2 Elementos de dados, 1 Idioma

Grupo de itens: IG.elig

Principal Investigator: Donald W. Bowden, Wake Forest School of Medicine, Winston-Salem, NC, USA MeSH: Cardiovascular Diseases,Vascular Calcification,Diabetes Mellitus https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001012 The Diabetes Heart Study is a family based study enriched for type 2 diabetes (T2D). The cohort included 1220 self-reported European Americans from 475 families (Bowden et al 2010 Review of Diabetic Studies 7:188-201: PMID: 21409311; Bowden et al 2008 Annals of Human Genetics 72:598-601 PMID: 18460048) and included siblings concordant for T2D; where possible unaffected siblings were also recruited. The cohort was recruited between 1998 and 2006. Participants were extensively phenotyped for measures of subclinical CVD and other known CVD risk factors. Primary outcomes were quantified burden of vascular calcified plaque in the coronary artery, carotid artery and abdominal aorta all determined from non-contrast computed tomography scans.

pht005547.v1.p1

1 Grupo de itens 2 Elementos de dados

pht005548.v1.p1

1 Grupo de itens 5 Elementos de dados

pht005549.v1.p1

1 Grupo de itens 3 Elementos de dados

pht005550.v1.p1

1 Grupo de itens 16 Elementos de dados

pht005551.v1.p1

1 Grupo de itens 3 Elementos de dados

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

- 2023-05-17 - 4 Formulários, 1 Grupo de itens, 5 Elementos de dados, 1 Idioma

Grupo de itens: 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

1 Grupo de itens 2 Elementos de dados

pht005757.v3.p3

1 Grupo de itens 12 Elementos de dados

pht005754.v4.p3

1 Grupo de itens 4 Elementos de dados

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