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.

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Short Name	Title	TOPMed Accession #	Description	Ethics statement
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.
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