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
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.