TOPMed
Parent/Study Descriptions and Statements
Notes: “phs” is a dbGaP study accession number prefix indicating a phenotype study. A study accession number is a unique, stable, and versioned identifier.
For studies with no description in the table below, click on the phs number to see the summary provided on dbGaP. In the table, you may encounter phs links that redirect to a dbGaP error page. If so, this is because the TOPMed dbGaP study webpages do not go live until the study accession is released.
The table below provides the names of institutions providing ethics approval or oversight so TOPMed authors can respond to journals that require documentation for ethics review of studies involving human subjects.
Is your study missing a description? Contact the TOPMed ACC.
| Short Name | Title | TOPMed Accession # | Description | Ethics statement |
|---|---|---|---|---|
| AFLMU | Atrial Fibrillation Biobank Ludwig Maximilian University Study | phs001543 | ||
| Africa6K | Integrative Genomic Studies of Heart and Blood Related Traits in Africans | phs002194 | All NHLBI TOPMed: Integrative Genomic Studies of Heart and Blood Related Traits in Africans (Africa6K) participants provided informed consent, and the study was approved by the Institutional Review Board of the University of Pennsylvania, Case Western Reserve University, Vanderbilt University, Dartmouth College, and Regional Hospital, Sunyani. | |
| Amish | Genetics of Cardiometabolic Health in the Amish | phs000956 | All study protocols were approved by the institutional review board at the University of Maryland Baltimore. Informed consent was obtained from each study participant. | |
| ARIC | Atherosclerosis Risk in Communities Study VTE cohort | 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 | NIH guidelines for conducting human genetic research were followed. The Institutional Review Boards (IRB) of Johns Hopkins University (GRAAD, BASS and BAGS), Howard University (CRAD and HUFS), Wake Forest University (SARP), the University of California, San Francisco (coordinating center for the SAGE II and GALA II studies), the Western Institutional Review Board for the recruitment in Puerto Rico (GALA II Puerto Ricans), Children’s Hospital and Research Center Oakland and Kaiser Permanente-Vallejo Medical Center (SAGE II), the University of Chicago (CAG), University of the West Indies, Mona, Jamaica and Cave Hill Campus, Barbados (BAGS), University of Mississippi Medical Center (JHS), Henry Ford Health System (SAPPHIRE), the Universidad Católica de Honduras in San Pedro Sula (HONDAS), Federal University of Bahia (BIAS and ProAR), the University of Cartagena (PGCA), all reviewed and approved this study. All participants provided written informed consent. | |
| BCC-PREG | The Boston-Colombia Collaborative for Adverse Pregnancy Outcomes | |||
| BioMe | Mount Sinai BioMe Biobank | phs001644 | The BioMe Biobank is an ongoing, prospective, hospital- and outpatient- based population research program operated by The Charles Bronfman Institute for Personalized Medicine (IPM) at Mount Sinai. BioMe has enrolled over 50,000 participants between September 2007 and July 2019. BioMe is an Electronic Medical Record (EMR)-linked biobank that integrates research data and clinical care information for consented patients at The Mount Sinai Medical Center, which serves diverse local communities of upper Manhattan with broad health disparities. IPM BioMe populations include 25% of African American ancestry (AA), 36% of Hispanic Latino ancestry (HL), 30% of white European ancestry (EA), and 9% of other ancestry. The BioMe disease burden is reflective of health disparities in the local communities. BioMe operations are fully integrated in clinical care processes, including direct recruitment from clinical sites waiting areas and phlebotomy stations by dedicated BioMe 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. | The BioMe cohort was approved by the Institutional Review Board at the Icahn School of Medicine at Mount Sinai. All BioMe participants provided written, informed consent for genomic data sharing. |
| 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 | All CAMP study parents provided informed consent and participants provided consent/assent and the study was approved by the Institutional Review Boards of all 8 clinical sites (Denver, St. Louis, San Diego, Boston, Baltimore, Albaquerque, Toronto, Seattle) and the Data Coordinating Center (Baltimore). | |
| 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 |
All CARDIA participants provided informed consent, and the study was approved by the Institutional Review Boards of the University of Alabama at Birmingham and the University of Texas Health Science Center at Houston. |
| 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. | Cleveland Family Study was approved by the Institutional Review Board (IRB) of Case Western Reserve University and Mass General Brigham (formerly Partners HealthCare). Written informed consent was obtained from 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. | All CHS participants provided informed consent, and the study was approved by the Institutional Review Board [or ethics review committee] of University Washington. |
| 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 | All COPDGene participants provided written informed consent, and the study was approved by the Institutional Review Boards of the participating clinical centers. | |
| COPDGene COPDMet | Genetic Epidemiology of COPD Study | phs000951 | ||
| CRA | The Genetic Epidemiology of Asthma in Costa Rica - Asthma in Costa Rica cohort | phs000988 | All Genetics of Asthma in Costa Rica parents provided informed consent and all children provided assent for participation in the study and the study was approved by the Institutional Review Board of the Hospital de Ninos in San Juan, Costa Rica and by the Institutional Review Board of Brigham and Women's Hospital, Boston MA. | |
| 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 | All ECLIPSE participants provided written informed consent, and the study was approved by the Institutional Review Boards of the participating clinical centers. | |
| EGCUT | Estonian Genome Center | phs001606 | All analyses in EGCUT were approved by the Ethics Review Committee of the University of Tartu. All participants provided written informed consent. | |
| EOCOPD | Boston Early-Onset COPD Study | phs000946 | All Boston Early-Onset COPD Study participants provided written informed consent, and the study was approved by the Institutional Review Board at Brigham and Women's Hospital. | |
| FamHS | Family Heart Study | sequencing not planned | The Family Heart Study (FamHS) was approved by the Institutional Review Board at the Washington University in St. Louis. Written informed consent including consent to participate in genetic studies was obtained from each participant. | |
| FHS | Framingham Heart Study | phs000974 | The Framingham Heart Study was approved by the Institutional Review Board of the Boston University Medical Center. All study participants provided written informed consent. | |
| 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. |
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| 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. |
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| 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. |
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| GCPD-A | Genetics of Complex Pediatric Disorders - Asthma | phs001661 | ||
| GENAF | The GENetics in Atrial Fibrillation Study | phs001547 | ||
| GeneSTAR | Genetic Studies of Atherosclerosis Risk | phs001218 | All participants provided written informed consent and the study was approved by the Johns Hopkins Medicine Institutional Review Board. | |
| 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. | Written informed consent was obtained from all subjects and approval was granted by participating institutional reviewboards (University of Michigan, University of Mississippi Medical Center, and Mayo Clinic). |
| 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. | Written informed consent was obtained from all subjects and approval was granted by participating institutional review boards (University of Michigan, University of Mississippi Medical Center, and Mayo Clinic). |
| GenSalt | Genetic Epidemiology Network of Salt Sensitivity | phs001217 | All subjects provided informed consent and the GenSalt study was approved by the Institutional Review Board (IRB) of all participating institutes in the US and China. | |
| 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. |
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| GOLDN | Genetics of Lipid Lowering Drugs and Diet Network | phs001359 | All GOLDN participants provided informed consent, and the study was approved by the Institutional Review Board of the University of Kentucky. | |
| 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. |
This study was approved by the institutional review boards (IRBs) at each field center, where all participants gave written informed consent, and by the Non-Biomedical IRB at the University of North Carolina at Chapel Hill, to the HCHS/SOL Data Coordinating Center. All IRBs approving the study are: Non-Biomedical IRB at the University of North Carolina at Chapel Hill. Chapel Hill, NC; Einstein IRB at the Albert Einstein College of Medicine of Yeshiva University. Bronx, NY; IRB at Office for the Protection of Research Subjects (OPRS), University of Illinois at Chicago. Chicago, IL; Human Subject Research Office, University of Miami. Miami, FL; Institutional Review Board of San Diego State University. San Diego, CA. |
| HIPS | Hemophilia Inhibitor PUPs study | phs002302 |
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