Parent Study Descriptions & Ethics Statements

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Parent study's short name Parent Study Long Name TOPMed Accession # Description
AFLMU Atrial Fibrillation Biobank Ludwig Maximilian University Study phs001543
Africa6K Integrative Genomic Studies of Heart and Blood Related Traits in Africans phs002194
Amish Genetics of Cardiometabolic Health in the Amish phs000956
ARIC Atherosclerosis Risk in Communities Study VTE cohort phs001211
ARIC AFGen Atherosclerosis Risk in Communities Study phs001211
AustralianFamilialAF Molecular Mechanisms of Inherited Cardiomyopathies and Arrhythmias in the Australian Familial AF Study phs001435 The Australian Familial AF cohort is comprised of probands with a positive family history of atrial fibrillation. All subjects have provided informed written consent and have undergone medical history, ECG and echocardiogram, and blood or buccal samples collected for genetics analyses. Study protocols have been reviewed by the St Vincent's Hospital Human Research Ethics Committee.
BAGS New Approaches for Empowering Studies of Asthma in Populations of African Descent - Barbados Asthma Genetics Study phs001143
BCC-PREG The Boston-Colombia Collaborative for Adverse Pregnancy Outcomes
BioMe AFGen Mount Sinai BioMe Biobank phs001644
BioVU_AF The Vanderbilt University BioVU Atrial Fibrillation Genetics Study phs001624
Boston-Brazil_SCD Boston-Brazil Collaborative Study of Sickle Cell Disease phs001599
CAMP Childhood Asthma Management Program phs001726
CARDIA Coronary Artery Risk Development in Young Adults phs001612 The Coronary Artery Risk Development in Young Adults (CARDIA) Study is a study examining the development and determinants of clinical and subclinical cardiovascular disease and their risk factors. It began in 1985-6 with a group of 5115 black and white men and women aged 18-30 years. The participants were selected so that there would be approximately the same number of people in subgroups of race, gender, education (high school or less and more than high school) and age (18-24 and 25-30) in each of 4 centers: Birmingham, AL; Chicago, IL; Minneapolis, MN; and Oakland, CA. These same participants were asked to participate in follow-up examinations during 1987-1988 (Year 2), 1990-1991 (Year 5), 1992-1993 (Year 7), 1995-1996 (Year 10), 2000-2001 (Year 15), 2005-2006 (Year 20), 2010-2011 (Year 25), and 2015-2016 (Year 30). A majority of the group has been examined at each of the follow-up examinations (91%, 86%, 81%, 79%, 74%, 72%, 72%, and 71%, respectively). While the specific aims of each examination have varied, data have been collected on a variety of factors believed to be related to heart disease. These include conditions with clear links to heart disease such as blood pressure, cholesterol and other lipids, and glucose. Data have also been collected on physical measurements such as weight and body composition as well as lifestyle factors such as dietary and exercise patterns, substance use (tobacco and alcohol), behavioral and psychological variables, medical and family history, and other chemistries (e.g., insulin). In addition, subclinical atherosclerosis has been measured via echocardiography during Years 5, 10, 25, and 30, a chest CT scan during Years 15, 20, and 25, an abdominal CT scan during Year 25, and carotid ultrasound during Year 20. A brain MRI was performed on a subset of participants at Years 25 and 30. The CARDIA cohort, born between 1955 and 1968, has been influenced substantially by the obesity epidemic at ages younger than participants in other established NHLBI cohorts. Further investigation of the mechanisms linking obesity to derangements in cardiovascular structure and function and the etiology of clinical events promises to generate important new knowledge to inform health promotion and disease prevention efforts. see https://www.cardia.dopm.uab.edu/cardia-overview/overview-more
CARE_BADGER Childhood Asthma Research and Education Network: Best Add-on Therapy Giving Effective Responses phs001728
CARE_CLIC Childhood Asthma Research and Education Network: Characterizing the Response to a Leuikotriene Receptor Agonis and an Inhaled Corticosteroid phs001729
CARE_PACT Childhood Asthma Research and Education Network: Pediatric Asthma Controller Trial phs001730
CARE_TREXA Childhood Asthma Research and Education Network: Treating Children to Prevent Exacerbations of Asthma phs001732
CATHGEN The Duke CATHeterization GENetics Study phs001600
CCAF Cleveland Clinic Atrial Fibrillation Study phs001189 Cleveland Clinic Lone Atrial Fibrillation GeneBank Study (CCAF) has enrolled patients with lone atrial fibrillation, defined as atrial fibrillation in the absence of significant structural heart disease. Participants were at least 18 years of age with a history of recurring or persistent lone atrial fibrillation, ≤50% coronary artery stenosis in the coronary arteries (if cardiac catheterization done) or with normal stress test results (documentation of normal cardiac catheterization or stress test required if age ≥50 years), and had normal left ventricular ejection fraction (LVEF) 50%. Individuals were excluded if they had heart failure, history of significant valvular disease (>2+ valvular regurgitation, any valvular stenosis), significant coronary artery disease (>50% coronary artery stenosis), prior myocardial infarction, prior percutaneous coronary intervention, or coronary artery bypass graft, or latest LVEF <50%.
CFS Cleveland Family Study - WGS Collaboration phs000954 The Cleveland Family Study (CFS) was designed to examine the genetic basis of sleep apnea in 2,534 African-American and European-American individuals from 356 families. Index probands with confirmed sleep apnea were recruited from sleep centers in northern Ohio, supplemented with additional family members and neighborhood control families [{Redline1995}]. Four visits occurred between 1990 and 2006; in the first 3, data were collected in participants’ homes while the last occurred in a clinical research center (2000 - 2006). Measurements included sleep apnea monitoring, blood pressure, anthropometry, spirometry and other related phenotypes. Blood samples (overnight fasting, before bed and following an oral glucose tolerance test), nasal and oral ultrasound, and ECG were also obtained during the 4th exam. Institutional Review Board approval and signed informed consent was obtained for all participants.
ChildrensHS_GAP Children's Health Study: Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma phs001602 The Integrative Genetic Approaches to Gene-Air Pollution Interactions in Asthma (GAP) study was proposed to use an innovative genetics approach in mice and humans to identify novel variants that interact with traffic-related pollutant exposures to affect lung function phenotypes and the risk of childhood asthma. The study participants were enrolled from the original southern California Children’s Health Study (CHS) with Institutional Review Board oversight and receipt of informed consent from all participants. In the TOPMed project, seven Hispanic White participants who did not have asthma history were included in the WGS analysis.
ChildrensHS_IGERA Children's Health Study: Integrative Genomics and Environmental Research of Asthma phs001603 The Integrative Genomics and Environmental Research of Asthma (IGERA) Study was proposed to collect immortalized cell lines, RNA, cDNA and DNA from 400 well-characterized subjects who participated in the southern California Children’s Health Study (CHS) and to develop an accompanying database for these samples consisting of extensive phenotype, exposure, genome-wide genotype, gene expression, and methylation data. The study participants were enrolled from the original southern California Children’s Health Study (CHS) with Institutional Review Board oversight and receipt of informed consent from all participants. A subset of Hispanic-White participants (n=160) were included in the TOPMed project, including 77 asthma cases and 83 controls.
ChildrensHS_MetaAir Children's Health Study: Effects of Air Pollution on the Development of Obesity in Children phs001604 The Effects of Air Pollution on the Development of Obesity in Children (Meta-AIR) study was proposed to study a subset of the Children’s Health Study (CHS) participants representing the extremes of long-term traffic-related air pollution exposure occurring in Southern California CHS communities. The primary aim of the Meta-AIR study was to investigate whether lifetime exposure to air pollution increases risk for obesity and metabolic dysfunction at 17-18 years of age. The study participants were enrolled from the original southern California Children’s Health Study (CHS) with Institutional Review Board oversight and receipt of informed consent from all participants. A total of 54 Hispanic White participants (15 asthma cases and 39 controls) were included in the TOPMed project.
CHIRAH Genetics Sub-Study of Chicago Initiative to Raise Asthma Health Equity phs001605
CHS Cardiovascular Health Study phs001368 The Cardiovascular Health Study (CHS) is a population-based cohort study initiated by the National Heart, Lung and Blood Institute (NHLBI) in 1987 to determine the risk factors for development and progression of cardiovascular disease (CVD) in older adults, with an emphasis on subclinical measures. The study recruited 5,888 adults aged 65 or older at entry in four U.S. communities and conducted extensive annual clinical exams between 1989-1999 along with semi-annual phone calls, events adjudication, and subsequent data analyses and publications. Additional data are collected by studies ancillary to CHS. In June 1990, four Field Centers (Sacramento, CA; Hagerstown, MD; Winston-Salem, NC; Pittsburgh, PA) completed the recruitment of 5201 participants. Between November 1992 and June 1993, an additional 687 African Americans were recruited using similar methods. Blood samples were drawn from all participants at their baseline examination and during follow-up clinic visits and DNA was subsequently extracted from available samples. CHS analyses were limited to participants with available DNA who consented to genetic studies. The baseline examinations consisted of a home interview and a clinic examination that assessed not only traditional risk factors but also measures of subclinical disease, including carotid ultrasound, echocardiography, electrocardiography, and pulmonary function. Between enrollment and 1998-99, participants were seen in the clinic annually, and contacted by phone at 6-month intervals to collect information about hospitalizations and potential cardiovascular events. Major exam components were repeated during annual follow-up examinations through 1999. Cranial MRI scans, retinal photography, and tests of endothelial function were added as new components. Standard protocols for the identification and adjudication of events were implemented during follow-up. The adjudicated events are CHD, angina, heart failure (HF), stroke, transient ischemic attack (TIA), claudication and mortality. Adjudication of cause of death continues using a streamlined protocol; adjudication of other events ended in June 2015. Deep venous thrombosis and pulmonary embolism events from baseline through 2001 were adjudicated in an ancillary study: the Longitudinal Investigation of Thromboembolism Etiology (LITE). Since 1999, participants have been contacted every 6 months by phone, primarily to ascertain health status and for events follow-up. The study was initially approved by institutional review boards at the Field Centers (Wake Forest, University of California – Davis, Johns Hopkins University, University of Pittsburgh), the Core Laboratory (University of Vermont) and at the Coordinating Center (University of Washington). The University of Washington now handles CHS Data Repository approvals.
CHS VTE Cardiovascular Health Study phs001368 The Cardiovascular Health Study (CHS) is a population-based cohort study initiated by the National Heart, Lung and Blood Institute (NHLBI) in 1987 to determine the risk factors for development and progression of cardiovascular disease (CVD) in older adults, with an emphasis on subclinical measures. The study recruited 5,888 adults aged 65 or older at entry in four U.S. communities and conducted extensive annual clinical exams between 1989-1999 along with semi-annual phone calls, events adjudication, and subsequent data analyses and publications. Additional data are collected by studies ancillary to CHS. In June 1990, four Field Centers (Sacramento, CA; Hagerstown, MD; Winston-Salem, NC; Pittsburgh, PA) completed the recruitment of 5201 participants. Between November 1992 and June 1993, an additional 687 African Americans were recruited using similar methods. Blood samples were drawn from all participants at their baseline examination and during follow-up clinic visits and DNA was subsequently extracted from available samples. CHS analyses were limited to participants with available DNA who consented to genetic studies. The baseline examinations consisted of a home interview and a clinic examination that assessed not only traditional risk factors but also measures of subclinical disease, including carotid ultrasound, echocardiography, electrocardiography, and pulmonary function. Between enrollment and 1998-99, participants were seen in the clinic annually, and contacted by phone at 6-month intervals to collect information about hospitalizations and potential cardiovascular events. Major exam components were repeated during annual follow-up examinations through 1999. Cranial MRI scans, retinal photography, and tests of endothelial function were added as new components. Standard protocols for the identification and adjudication of events were implemented during follow-up. The adjudicated events are CHD, angina, heart failure (HF), stroke, transient ischemic attack (TIA), claudication and mortality. Adjudication of cause of death continues using a streamlined protocol; adjudication of other events ended in June 2015. Deep venous thrombosis and pulmonary embolism events from baseline through 2001 were adjudicated in an ancillary study: the Longitudinal Investigation of Thromboembolism Etiology (LITE). Since 1999, participants have been contacted every 6 months by phone, primarily to ascertain health status and for events follow-up. The study was initially approved by institutional review boards at the Field Centers (Wake Forest, University of California – Davis, Johns Hopkins University, University of Pittsburgh), the Core Laboratory (University of Vermont) and at the Coordinating Center (University of Washington). The University of Washington now handles CHS Data Repository approvals.
COPDGene Genetic Epidemiology of COPD Study phs000951
COPDGene COPDMet Genetic Epidemiology of COPD Study phs000951
CRA The Genetic Epidemiology of Asthma in Costa Rica - Asthma in Costa Rica cohort phs000988
CSCN-OSA Canadian Sleep and Circadian Network - Obstructive Sleep Apnea Project
DECAF Determining the association of chromosomal variants with non-PV triggers and ablation-outcome in DECAF phs001546
DHS Diabetes Heart Study phs001412 African American Diabetes Heart Study (AA-DHS) objectives are to improve understanding of ethnic differences in coronary artery calcification (CAC) and carotid plaque (CP) in populations of African and European ancestry. The AA-DHS consists of self-reported African Americans with T2D recruited from two Wake Forest School of Medicine (WFSM) studies: the family-based Diabetes Heart Study (DHS) and unrelated individuals in the AA-DHS. DHS is a cross-sectional study of European American and African American families with siblings concordant for T2D. AA-DHS started after DHS and enrolled unrelated African Americans. Written informed consent was obtained from all participants and all study protocols were approved by the WFSM institutional review board.
ECLIPSE Evaluation of COPD Longitudinally to Identify Predictive Surrogate End-points phs001472
EGCUT Estonian Genome Center phs001606
EOCOPD Boston Early-Onset COPD Study phs000946
FamHS Family Heart Study sequencing not planned
FHS Framingham Heart Study phs000974
FHS AFGen Framingham Heart Study phs000974
GALAI ATGC Gene-Environment, Admixture and Latino Asthmatics Study I Asthma phs001542 Subjects with asthma and their biological parents were enrolled over a 4-year period in the San Francisco Bay Area, California; New York City, New York; Puerto Rico; and Mexico City, Mexico. Investigators recruited subjects from community schools, clinics, and hospitals that cared for Latino populations. In all health care centers, medical records were reviewed to identify patients with physician-diagnosed asthma, who then were contacted to participate in the study. Asthma cases were between the ages of 8 and 40 years, had physician-diagnosed asthma, and had two or more asthma symptoms (among wheezing, coughing, and shortness of breath) in the 2 years prior to recruitment. Our goal was to recruit equal proportions of subjects with mild and moderate–severe asthma as defined by the study protocol (1). Local institutional review boards, school boards, and clinics approved the study. Recruitment was standardized across all clinical centers. Bilingual and bicultural physicians specialized in asthma were present at all interviews. All forms and questionnaires for subjects were available in English and Spanish. Although questionnaires at each recruitment site were identical, culturally and linguistically competent recruiters interviewed all subjects to account for differences in local Spanish dialects. 1. Burchard EG, Avila PC, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, et al. Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma. Am J Respir Crit Care Med. 2004 Feb 1;169(3):386-92.
GALAII Gene-Environment, Admixture and Latino Asthmatics Study phs000920 The Study of African Americans, Asthma, Genes, & Environments (SAGE) and the Genes-Environments and Admixture in Latino Americans (GALA II) study both began in 2006 and are parallel case-control studies with similar protocols and questionnaires. Subjects were recruited from 5 urban study centers across the mainland United States and Puerto Rico (Oh et al, 2012 Table E1 (2)); SAGE subjects were recruited only from the San Francisco Bay Area. All subjects were 8 to 21 years old with physician-diagnosed asthma (cases) and no history of other lung or chronic illnesses (cases and controls); active smokers were excluded. Parents and grandparents must have self-identified as Latino (GALA II) or black (SAGE). Additional inclusion/exclusion criteria are detailed in Oh et al, 2012 Table E2 (2). SAGE also included a small number of subjects (300 cases and 300 controls between the ages of 8 and 40 years) with similar protocols and questionnaires adapted from GALA I (1). Each participating center’s institutional review board reviewed and approved the study. Written informed consent was provided by each child’s parent or legal guardian and if 18 and older, by the subject. 1. Burchard EG, Avila PC, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, et al. Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma. Am J Respir Crit Care Med. 2004 Feb 1;169(3):386-92. 2. Oh SS, Tcheurekdjian H, Roth LA, Nguyen EA, Sen S, Galanter JM, et al. Effect of secondhand smoke on asthma control among black and Latino children. J Allergy Clin Immunol. 2012 Jun;129(6):1478,83.e7.
GALAII ATGC ATGC Gene-Environment, Admixture and Latino Asthmatics Study II Asthma phs000920 The Study of African Americans, Asthma, Genes, & Environments (SAGE) and the Genes-Environments and Admixture in Latino Americans (GALA II) study both began in 2006 and are parallel case-control studies with similar protocols and questionnaires. Subjects were recruited from 5 urban study centers across the mainland United States and Puerto Rico (Oh et al, 2012 Table E1 (2)); SAGE subjects were recruited only from the San Francisco Bay Area. All subjects were 8 to 21 years old with physician-diagnosed asthma (cases) and no history of other lung or chronic illnesses (cases and controls); active smokers were excluded. Parents and grandparents must have self-identified as Latino (GALA II) or black (SAGE). Additional inclusion/exclusion criteria are detailed in Oh et al, 2012 Table E2 (2). SAGE also included a small number of subjects (300 cases and 300 controls between the ages of 8 and 40 years) with similar protocols and questionnaires adapted from GALA I (1). Each participating center’s institutional review board reviewed and approved the study. Written informed consent was provided by each child’s parent or legal guardian and if 18 and older, by the subject. 1. Burchard EG, Avila PC, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, et al. Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma. Am J Respir Crit Care Med. 2004 Feb 1;169(3):386-92. 2. Oh SS, Tcheurekdjian H, Roth LA, Nguyen EA, Sen S, Galanter JM, et al. Effect of secondhand smoke on asthma control among black and Latino children. J Allergy Clin Immunol. 2012 Jun;129(6):1478,83.e7.
GCPD-A Genetics of Complex Pediatric Disorders - Asthma phs001661
GENAF The GENetics in Atrial Fibrillation Study phs001547
GeneSTAR Genetic Studies of Atherosclerosis Risk phs001218
GeneSTAR AA_CAC Genetic Studies of Atherosclerosis Risk phs001218
GENOA Genetic Epidemiology Network of Arteriopathy phs001345 The Genetic Epidemiology Network of Arteriopathy (GENOA) study, a part of the Family Blood Pressure Program (FBPP Investigators, 2002), consists of hypertensive sibships that were recruited for linkage and association studies in order to identify genes that influence blood pressure and its target organ damage (Daniels, 2004). In the initial phase of the GENOA study (Phase I: 1996-2001), all members of sibships containing ≥ 2 individuals with essential hypertension clinically diagnosed before age 60 were invited to participate, including both hypertensive and normotensive siblings. In the second phase of the GENOA study (Phase II: 2000-2004), 1,239 non-Hispanic white and 1,482 African American participants were successfully re-recruited to measure potential target organ damage due to hypertension.
GENOA AA_CAC Genetic Epidemiology Network of Arteriopathy phs001345 The Genetic Epidemiology Network of Arteriopathy (GENOA) study, a part of the Family Blood Pressure Program (FBPP Investigators, 2002), consists of hypertensive sibships that were recruited for linkage and association studies in order to identify genes that influence blood pressure and its target organ damage (Daniels, 2004). In the initial phase of the GENOA study (Phase I: 1996-2001), all members of sibships containing ≥ 2 individuals with essential hypertension clinically diagnosed before age 60 were invited to participate, including both hypertensive and normotensive siblings. In the second phase of the GENOA study (Phase II: 2000-2004), 1,239 non-Hispanic white and 1,482 African American participants were successfully re-recruited to measure potential target organ damage due to hypertension.
GenSalt Genetic Epidemiology Network of Salt Sensitivity phs001217
GGAF Groningen Genetics of Atrial Fibrillation Study phs001725 (Cite PMID: 29892015 From ""Multi-ethnic genome-wide association study for atrial fibrillation."", NG, 2018) The GGAF cohort (n=2207) is a genotype and phenotype repository of individuals with AF and age- and sex-matched controls from 5 different sources. All studies were approved by the ethical committee, and all individuals provided written informed consent. Individuals with AF (n=1108) were included in 3 registry cohorts at the University Medical Center (www.atrialfibrillationresearch.nl), and Maastricht University Medical Center (AF-Risk n=6). The AF-Risk study (ClinicalTrials.gov Identifier: NCT01510210) is an observational hospital-based cohort (n=500; in GGAF 339) to seek for markers of severity of atrial remodeling and predict outcome of a rhythm control treatment strategy. Patients with a short history of AF were included. Detailed phenotypic information was collected, including non-invasive vascular function measurements, body surface mapping, and detailed information on presence or progression of AF during 5-years follow up is obtained by use of serial ECGs, 24-hour Holter monitoring and recordings from loop recorders. The Young-AF study is an observational hospital-based cohort (n=500; in GGAF 311) to seek describe the phenotypic profile of patients with AF onset at age <60 years and the occurrence of AF progression during 5 years follow up. The phenotypic data that was collected is similar to the AF risk profile study. The Biomarker AF study (ClinicalTrials.gov Identifier: NCT01510197) is an observational hospital-based cohort (n=500; in GGAF 458) to identify a risk profile to guide AF therapy in all-comers with AF. The project is similar in design as the AF risk profile study, with a few modifications. No extra phenotypic information on top of our standard clinical AF protocol was performed, except blood sampling. Age-and sex-matched individuals without AF (controls) were included from 2 cohorts at the University Medical Center Groningen.The GIPS study is a randomized-controlled trial (n=380; in GGAF 362) to evaluate the effect of metformin treatment on preservation of left ventricular function in patients without diabetes presenting with ST-segment elevation myocardial infarction (STEMI). Mean left ventricular ejection fraction after 4 months, assessed by magnetic resonance imaging was 53.1%, and the use of metformin compared with placebo did not improve left ventricular ejection fraction. The PREVEND cohort study (www.prevend.org) is a community-based cohort study including 8592 inhabitants of the city of Groningen, The Netherlands. PREVEND is one of the AFGen consortium participants, see further for more details on cohort description. In the GGAF cohort we included 742 individuals without AF, not previously included in GWAS.
GOLDN Genetics of Lipid Lowering Drugs and Diet Network phs001359
HCHS_SOL Hispanic Community Health Study - Study of Latinos phs001395 The Hispanic Community Health Study/Study of Latinos (HCHS/SOL) is a prospective, population-based cohort study of 16,415 Hispanics/Latino adults (ages 18-74 years) who were selected using a two-stage probability sampling design from four US communities (Chicago, IL; Miami, FL; Bronx, NY; San Diego, CA) (PMID: 20609344; PMID: 20609343). During the enrollment phase, standardized clinical visits were conducted during 2008-2011 at dedicated study field centers by bilingual interviewers and medical technicians. Data collection followed a uniform protocol implemented in the four field centers, overseen by a Coordinating Center, Central Laboratory, and specialized Reading Centers.
HIPS Hemophilia Inhibitor PUPs study phs002302
HLKSCD Genetic Variation of Heart, Lung, and Kidney Disease in Sickle Cell Disease: Pre- and Post-Curative Therapies
HVH Heart and Vascular Health Study phs000993 The Heart and Vascular Health (HVH) VTE Study is a case-control study of risk factors for cardiovascular outcomes set at Group Health (GH), an integrated health care delivery system in western Washington State. Cases include venous thromboembolism (VTE), myocardial infarction (MI), stroke, and atrial fibrillation (AF), with a shared common control group frequency matched to MI cases on age (within decade) sex, treated hypertension, and calendar year of identification. Study approval was granted by the human subjects committee at GH, and written informed consent was provided by all study participants. Eligibility and risk factor information were collected by trained medical record abstractors from a review of the GH medical record using only data available prior to the event date of cases and a randomly selected date for the controls. All VTE, MI, stroke and AF events were verified by medical record review. For the TOPMed data set, only incident idiopathic cases of VT and early-onset (age <=60 years) cases of AF without underlying heart failure, myocardial infarction, or valvular heart disease were included. Within the HVH study, VT and AF cases were diagnosed in both inpatient and outpatient settings. A venous blood sample was collected from all consenting subjects, and DNA was extracted from white blood cells using standard procedures.
HVH VTE Heart and Vascular Health Study phs000993 The Heart and Vascular Health (HVH) VTE Study is a case-control study of risk factors for cardiovascular outcomes set at Group Health (GH), an integrated health care delivery system in western Washington State. Cases include venous thromboembolism (VTE), myocardial infarction (MI), stroke, and atrial fibrillation (AF), with a shared common control group frequency matched to MI cases on age (within decade) sex, treated hypertension, and calendar year of identification. Study approval was granted by the human subjects committee at GH, and written informed consent was provided by all study participants. Eligibility and risk factor information were collected by trained medical record abstractors from a review of the GH medical record using only data available prior to the event date of cases and a randomly selected date for the controls. All VTE, MI, stroke and AF events were verified by medical record review. For the TOPMed data set, only incident idiopathic cases of VT and early-onset (age <=60 years) cases of AF without underlying heart failure, myocardial infarction, or valvular heart disease were included. Within the HVH study, VT and AF cases were diagnosed in both inpatient and outpatient settings. A venous blood sample was collected from all consenting subjects, and DNA was extracted from white blood cells using standard procedures.
HyperGEN Hypertension Genetic Epidemiology Network phs001293
INSPIRE_AF Intermountain Heart Study phs001545
IPF Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis phs001607
JHS Jackson Heart Study phs000964
JHU_AF The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study phs001598
LTRC Lung Tissue Research Consortium phs001662
Mayo_VTE Mayo Clinic Venous Thromboembolism Study phs001402
MDS Genomics of Myelodysplastic Syndromes phs002360
MESA Multi-Ethnic Study of Atherosclerosis phs001416
MESA AA_CAC Multi-Ethnic Study of Atherosclerosis Family cohort phs001416
MGH_AF Massachusetts General Hospital Atrial Fibrillation Study phs001062
miRhythm Defining time-dependent genetic and transcriptomic responses to cardiac injury among patients with arrhythmias phs001434
MLOF My Life, Our Future: Genotyping for Progress in Hemophilia phs001515
MPP Malmo Preventative Project phs001544
MWCCS/Proteomics MWCCS Proteomics
MWCCS/SDS MWCCS Sex Differences Study
nuMoM2b-HHS nuMoM2b-Heart Health Study phs002339
OMG_SCD Outcome Modifying Genes in Sickle Cell Disease phs001608
Partners Partners Healthcare Biorepository phs001024
PCGC_CHD Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank phs001735 Pediatric Cardiac Genomics Consortium (PCGC). CHD subjects were recruited to the Congenital Heart Disease Network Study of the Pediatric Cardiac Genomics Consortium (CHD GENES: ClinicalTrials.gov identifier NCT01196182). The institutional review boards of Boston's Children's Hospital, Brigham and Women's Hospital, Great Ormond Street Hospital, Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Columbia University Medical Center, Icahn School of Medicine at Mount Sinai, Rochester School of Medicine and Dentistry, Steven and Alexandra Cohen Children's Medical Center of New York, and Yale School of Medicine approved the protocols. All subjects or their parents provided informed consent. Subjects were selected for structural CHD (excluding PDA associated with prematurity, and pulmonic stenosis associated with twin-twin transfusion). Individuals with either an identified chromosomal aneuploidy or a CNV that is known to be associated with CHD were not included. For all subjects, cardiac diagnoses were obtained from review of all imaging and operative reports and entered as Fyler codes based on the International Paediatric and Congenital Cardiac Codes. All patients were evaluated at study entry using a standardized protocol consisting of an interview that includes maternal, paternal and birth history and whether the patient has been examined by a geneticist. A comprehensive review of the proband's medical record was performed that included height and weight data, along with presence or absence of a broad range of reported extracardiac malformations, the availability and results of genetic testing and the presence or absence of a clinical genetic diagnosis. For probands under age 1, specialty (other than cardiology) services obtained in the course of clinical care were documented. For probands over age 1, parents were asked if their child was diagnosed with developmental delay and whether educational supports were obtained. Each patient has a three-generation pedigree.
PCGC_DS_CHD Down Syndrome Associated Atrioventricular Septal Defects: New Omic Resources phs001735
PharmHU The Pharmacogenomics of Hydroxyurea in Sickle Cell Disease phs001466
PHBI Pulmonary Hypertension Breakthrough Initiative phs002358
PIMA Pathways to Immunologically Mediated Asthma phs001727
PMBB_AF Early-onset Atrial Fibrillation in the Penn Medicine BioBank Cohort phs001601
PROMIS Pakistan Risk of Myocardial Infarction Study phs001569
PUSH_SCD Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease phs001682
PVDOMICS Pulmonary Vascular Disease Omics Analyses phs002451
REDS-III_Brazil Recipient Epidemiology and Donor Evaluation Study-III phs001468
SAFS Whole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD Risk - San Antonio Family Studies phs001215
SAGE Study of African Americans, Asthma, Genes and Environment phs000921 The Study of African Americans, Asthma, Genes, & Environments (SAGE) and the Genes-Environments and Admixture in Latino Americans (GALA II) study both began in 2006 and are parallel case-control studies with similar protocols and questionnaires. Subjects were recruited from 5 urban study centers across the mainland United States and Puerto Rico (Oh et al, 2012 Table E1 (2)); SAGE subjects were recruited only from the San Francisco Bay Area. All subjects were 8 to 21 years old with physician-diagnosed asthma (cases) and no history of other lung or chronic illnesses (cases and controls); active smokers were excluded. Parents and grandparents must have self-identified as Latino (GALA II) or black (SAGE). Additional inclusion/exclusion criteria are detailed in Oh et al, 2012 Table E2 (2). SAGE also included a small number of subjects (300 cases and 300 controls between the ages of 8 and 40 years) with similar protocols and questionnaires adapted from GALA I (1). Each participating center’s institutional review board reviewed and approved the study. Written informed consent was provided by each child’s parent or legal guardian and if 18 and older, by the subject. 1. Burchard EG, Avila PC, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, et al. Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma. Am J Respir Crit Care Med. 2004 Feb 1;169(3):386-92. 2. Oh SS, Tcheurekdjian H, Roth LA, Nguyen EA, Sen S, Galanter JM, et al. Effect of secondhand smoke on asthma control among black and Latino children. J Allergy Clin Immunol. 2012 Jun;129(6):1478,83.e7.
SAGE ATGC ATGC Study of African Americans, Asthma, Genes and Environment phs000921 The Study of African Americans, Asthma, Genes, & Environments (SAGE) and the Genes-Environments and Admixture in Latino Americans (GALA II) study both began in 2006 and are parallel case-control studies with similar protocols and questionnaires. Subjects were recruited from 5 urban study centers across the mainland United States and Puerto Rico (Oh et al, 2012 Table E1 (2)); SAGE subjects were recruited only from the San Francisco Bay Area. All subjects were 8 to 21 years old with physician-diagnosed asthma (cases) and no history of other lung or chronic illnesses (cases and controls); active smokers were excluded. Parents and grandparents must have self-identified as Latino (GALA II) or black (SAGE). Additional inclusion/exclusion criteria are detailed in Oh et al, 2012 Table E2 (2). SAGE also included a small number of subjects (300 cases and 300 controls between the ages of 8 and 40 years) with similar protocols and questionnaires adapted from GALA I (1). Each participating center’s institutional review board reviewed and approved the study. Written informed consent was provided by each child’s parent or legal guardian and if 18 and older, by the subject. 1. Burchard EG, Avila PC, Nazario S, Casal J, Torres A, Rodriguez-Santana JR, et al. Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma. Am J Respir Crit Care Med. 2004 Feb 1;169(3):386-92. 2. Oh SS, Tcheurekdjian H, Roth LA, Nguyen EA, Sen S, Galanter JM, et al. Effect of secondhand smoke on asthma control among black and Latino children. J Allergy Clin Immunol. 2012 Jun;129(6):1478,83.e7.
Samoan Samoan Adiposity Study phs000972
SAPPHIRE_asthma Study of Asthma Phenotypes & Pharmacogenomic Interactions by Race-Ethnicity phs001467
Sarcoidosis Genetics of Sarcoidosis in African Americans phs001207 Sarcoidosis patients, their relatives and unrelated controls were typed using whole genome sequencing to identify genetic variants associated with susceptibility, severity and specific disease manifestation.
SARP Severe Asthma Research Program phs001446
SCVI Stanford Cardiovascular Institute iPSC Biobank Study phs002338
SIT_SCD Silent Infarction Transfusion (SIT) Sickle Cell Disease (SCD) sequencing not planned
SPIROMICS SubPopulations and InteRmediate Outcome Measures In COPD Study phs001927
SPIROMICS COPDMet SubPopulations and InteRmediate Outcome Measures In COPD Study phs001927
STAGES Sleep Technology Analytics and Genomics of Sleep
THRV Taiwan Study of Hypertension using Rare Variants phs001387
TOPCHeF Trans-Omics for Precision Medicine for Congestive Heart Failure phs002038
UCSF_AF UCSF_AF phs001933
UNID_CM The Genetic Causes of Unexplained Cardiomyopathies phs002382
UNID_CM PCGC_CHD Pediatric Cardiac Genomics Consortium's Congenital Heart Disease Biobank phs001735 Pediatric Cardiac Genomics Consortium (PCGC). CHD subjects were recruited to the Congenital Heart Disease Network Study of the Pediatric Cardiac Genomics Consortium (CHD GENES: ClinicalTrials.gov identifier NCT01196182). The institutional review boards of Boston's Children's Hospital, Brigham and Women's Hospital, Great Ormond Street Hospital, Children's Hospital of Los Angeles, Children's Hospital of Philadelphia, Columbia University Medical Center, Icahn School of Medicine at Mount Sinai, Rochester School of Medicine and Dentistry, Steven and Alexandra Cohen Children's Medical Center of New York, and Yale School of Medicine approved the protocols. All subjects or their parents provided informed consent. Subjects were selected for structural CHD (excluding PDA associated with prematurity, and pulmonic stenosis associated with twin-twin transfusion). Individuals with either an identified chromosomal aneuploidy or a CNV that is known to be associated with CHD were not included. For all subjects, cardiac diagnoses were obtained from review of all imaging and operative reports and entered as Fyler codes based on the International Paediatric and Congenital Cardiac Codes. All patients were evaluated at study entry using a standardized protocol consisting of an interview that includes maternal, paternal and birth history and whether the patient has been examined by a geneticist. A comprehensive review of the proband's medical record was performed that included height and weight data, along with presence or absence of a broad range of reported extracardiac malformations, the availability and results of genetic testing and the presence or absence of a clinical genetic diagnosis. For probands under age 1, specialty (other than cardiology) services obtained in the course of clinical care were documented. For probands over age 1, parents were asked if their child was diagnosed with developmental delay and whether educational supports were obtained. Each patient has a three-generation pedigree.
VAFAR Vanderbilt Atrial Fibrillation Ablation Registry phs000997
VU_AF Vanderbilt Genetic Basis of Atrial Fibrillation phs001032
walk_PHaSST Treatment of Pulmonary Hypertension and Sickle Cell Disease with Sildenafil Therapy phs001514
WGHS Women's Genome Health Study phs001040 The Women’s Genome Health Study is a prospective cohort for genome-wide genetic analysis derived from the Women’s Health Study that was a balanced 2x2 factorial placebo-controled trial of aspirin (100mg every other day) and vitamin E (600 IU every other day) over 10 years beginning 1992-1994 for primary prevention of CVD and cancer among 39,876 female health care professionals, 45 years old and free of known prevalent endpoint conditions at baseline. Approximately 28,346 WHS participants provided a baseline blood sample within which cardiovascular risk factors biomarkers were measured and DNA was extracted for genotyping. Demographic and lifestyle data were collected by questionnaire. Follow-up was by annual questionnaire. Since the conclusion of the trial period, the cohort has continued for observational follow-up.
WHI Women's Health Initiative phs001237 The Women’s Health Initiative (WHI) cohort. The WHI is a prospective national health study focused on identifying optimal strategies for preventing chronic diseases that are the major causes of death and disability in postmenopausal women [refs]. The WHI initially recruited 161,808 women between 1993 and 1997 with the goal of including a socio-demographically diverse population with racial/ethnic minority groups proportionate to the total minority population of US women aged 50-79 years. The WHI consists of two major parts: a set of randomized Clinical Trials and an Observational Study. The WHI Clinical Trials (CT; N=68,132) includes three overlapping components, each a randomized controlled comparison: the Hormone Therapy Trials (HT), Dietary Modification Trial, and Calcium and Vitamin D Trial. A parallel prospective observational study (OS; N = 93,676) examined biomarkers and risk factors associated with various chronic diseases. While the HT trials ended in the mid-2000s, active follow-up of the WHI-CT and WHI-OS cohorts has continued for over 25 years, with the accumulation of large numbers of diverse clinical outcomes, risk factor measurements, medication use, and many other types of data.
CSV