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
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
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.