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 |
|---|---|---|---|---|
| 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. |
Study approval was granted by the human subjects committee at Group Health, and written informed consent was provided by all study participants. |
| 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. |
Study approval was granted by the human subjects committee at Group Health, and written informed consent was provided by all study participants. |
| HyperGEN | Hypertension Genetic Epidemiology Network | phs001293 | All HyperGEN participants provided informed consent, and the study was approved by the Institutional Review Board of the University of Kentucky. | |
| 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. | |
| IPF | Whole Genome Sequencing in Familial and Sporadic Idiopathic Pulmonary Fibrosis | phs001607 | ||
| JHS | Jackson Heart Study | phs000964 | The JHS study was approved by Jackson State University, Tougaloo College, and the University of Mississippi Medical Center IRBs, and all participants provided written informed consent. | |
| JHU_AF | The Johns Hopkins University School of Medicine Atrial Fibrillation Genetics Study | phs001598 | ||
| 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. | |
| Mayo_VTE | Mayo Clinic Venous Thromboembolism Study | phs001402 | All Mayo_VTE participants provided informed consent and the study was approved by the Institutional Review Board of Mayo Clinic, Rochester, MN. | |
| MDS | Genomics of Myelodysplastic Syndromes | phs002360 | ||
| MESA | Multi-Ethnic Study of Atherosclerosis | phs001416 | All MESA participants provided written informed consent, and the study was approved by the Institutional Review Boards at The Lundquist Institute (formerly Los Angeles BioMedical Research Institute) at Harbor-UCLA Medical Center, University of Washington, Wake Forest School of Medicine, Northwestern University, University of Minnesota, Columbia University, and Johns Hopkins University. | |
| MESA AA_CAC | Multi-Ethnic Study of Atherosclerosis Family cohort | phs001416 | All MESA/AA_CAC participants provided written informed consent, and the study was approved by the Institutional Review Boards at The Lundquist Institute (formerly Los Angeles BioMedical Research Institute) at Harbor-UCLA Medical Center, University of Washington, Wake Forest School of Medicine, Northwestern University, University of Minnesota, Columbia University, and Johns Hopkins University. | |
| 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 | All OMG-SCD participants provided informed consent, and the study was approved by the Institutional Review Board of Duke University. | |
| 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 | 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. | |
| 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 | All SAFS participants provided informed consent, and the study was approved by Institutional Review Board at the University of Texas Rio Grande Valley. | |
| 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 | All Samoan study participants provided written informed consent, and the study was approved by the Institutional Review Board at Brown University, and the Health Research Committee of the Samoa Ministry of Health. | |
| SAPPHIRE_asthma | Study of Asthma Phenotypes & Pharmacogenomic Interactions by Race-Ethnicity | phs001467 | All SAPPHIRE participants provided informed consent, and the study was approved by the Institutional Review Board for Henry Ford Health System. | |
| 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. | All sarcoidosis study participants provided informed consent, and the study was approved by the IRB at the Oklahoma Medical Research Foundation. |
| 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 | All THRV participants provided informed consent, and the study was approved by the Institutional Review Board at The Lundquist Institute (formerly Los Angeles BioMedical Research Institute) at Harbor-UCLA Medical Center. All THRV participants provided informed consent, and the study was approved by the Institutional Review Board at Washington University in St. Louis. | |
| 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. | |
| 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 |
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