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 # Sort ascending | Description | Ethics statement |
|---|---|---|---|---|
| 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. | |
| SIT_SCD | Silent Infarction Transfusion (SIT) Sickle Cell Disease (SCD) | sequencing not planned | ||
| MWCCS:SDS | MWCCS Sex Differences Study | phs003651 | The MACS-WIHS Combined Cohort Study (MWCCS) is an ongoing multicenter cohort study of people living with HIV and demographically and behaviorally similar people without HIV in the United States. A substudy within MWCCS integrated human gut microbiome data, immune activation markers, metabolomics, proteomics, and sex hormone levels measured in MWCCS to improve the understanding of the etiology of atherosclerosis and CVD in women and men with HIV, guide mechanistic studies, and provide insights to more efficient intervention strategies. | Institutional Review Boards affiliated with each MWCCS clinical research site approved the study protocol, and all MWCCS participants provided informed consent. |
| PVDOMICS | Pulmonary Vascular Disease Omics Analyses | phs002451 | All PVDOMICS participants provided informed consent, and the study was approved by the Institutional Review Board at each enrolling site and at the Data Coordinating Center at the Cleveland Clinic. | |
| UNID_CM | The Genetic Causes of Unexplained Cardiomyopathies | phs002382 | ||
| MDS | Genomics of Myelodysplastic Syndromes | phs002360 | ||
| PHBI | Pulmonary Hypertension Breakthrough Initiative | phs002358 | ||
| nuMoM2b-HHS | nuMoM2b-Heart Health Study | phs002339 | ||
| SCVI | Stanford Cardiovascular Institute iPSC Biobank Study | phs002338 | ||
| HIPS | Hemophilia Inhibitor PUPs study | phs002302 | ||
| 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. | |
| TOPCHeF | Trans-Omics for Precision Medicine for Congestive Heart Failure | phs002038 | All TOPCHeF participants provided informed consent, and the study was approved by the Colorado Multi-Institutional Review Board at the University of Colorado. | |
| UCSF_AF | UCSF_AF | phs001933 | All UCSF_AF participants provided informed consent, and the study was approved by the Institutional Review Board of the University of California, San Francisco. | |
| SPIROMICS COPDMet | SubPopulations and InteRmediate Outcome Measures In COPD Study | phs001927 | ||
| SPIROMICS | SubPopulations and InteRmediate Outcome Measures In COPD Study | phs001927 | ||
| 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. | |
| 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 | ||
| CARE_TREXA | Childhood Asthma Research and Education Network: Treating Children to Prevent Exacerbations of Asthma | phs001732 | ||
| CARE_PACT | Childhood Asthma Research and Education Network: Pediatric Asthma Controller Trial | phs001730 | ||
| CARE_CLIC | Childhood Asthma Research and Education Network: Characterizing the Response to a Leuikotriene Receptor Agonis and an Inhaled Corticosteroid | phs001729 | ||
| CARE_BADGER | Childhood Asthma Research and Education Network: Best Add-on Therapy Giving Effective Responses | phs001728 | ||
| PIMA | Pathways to Immunologically Mediated Asthma | phs001727 | ||
| 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). | |
| 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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| PUSH_SCD | Pulmonary Hypertension and the Hypoxic Response in Sickle Cell Disease | phs001682 | ||
| LTRC | Lung Tissue Research Consortium | phs001662 | All LTRC participants provided written informed consent, and the study was approved by the Institutional Review Boards of the participating clinical centers. | |
| GCPD-A | Genetics of Complex Pediatric Disorders - Asthma | phs001661 | ||
| 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 | ||
| 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. |
| OMG_SCD | Outcome Modifying Genes in Sickle Cell Disease | phs001608 | All OMG-SCD participants provided informed consent, and the study was approved by the Institutional Review Board of Duke University. | |
| IPF | Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis | phs001607 | ||
| 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. | |
| CHIRAH | Genetics Sub-Study of Chicago Initiative to Raise Asthma Health Equity | phs001605 | ||
| 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. | |
| 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_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. | |
| PMBB_AF | Early-onset Atrial Fibrillation in the Penn Medicine BioBank Cohort | phs001601 | ||
| CATHGEN | The Duke CATHeterization GENetics Study | phs001600 | ||
| Boston-Brazil_SCD | Boston-Brazil Collaborative Study of Sickle Cell Disease | phs001599 | ||
| JHU_AF | The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study | phs001598 | ||
| PROMIS | Pakistan Risk of Myocardial Infarction Study | phs001569 | ||
| GENAF | The GENetics in Atrial Fibrillation Study | phs001547 | ||
| DECAF | Determining the association of chromosomal variants with non-PV triggers and ablation-outcome in DECAF | phs001546 | ||
| INSPIRE_AF | Intermountain Heart Study | phs001545 | All INSPIRE_AF participants provided informed consent, and the study was approved by the Institutional Review Board of Intermountain Healthcare. | |
| MPP | Malmo Preventative Project | phs001544 | ||
| AFLMU | Atrial Fibrillation Biobank Ludwig Maximilian University Study | phs001543 | ||
| 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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| MLOF | My Life, Our Future: Genotyping for Progress in Hemophilia | phs001515 |
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