NHLBI TOPMed: Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE)

Started in 2007, the Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-ethnicity (SAPPHIRE) is one of the largest asthma cohort studies in the United States. Its overarching goal is to elucidate the genetic underpinnings of asthma and asthma medication treatment response. The cohort was recruited from a large health care system serving southeast Michigan and the Detroit metropolitan area, and the participants broadly represent the demographic and socioeconomic diversity of the region. Control participants (i.e., patients without a diagnosis with asthma) were recruited from the same health system and geographic region. By virtue of their health system enrollment, both asthma case and control patients have longitudinal clinical information which was routinely collected as part of their care. Both case and control patients underwent at detailed evaluation at the time of enrollment which included lung function testing and bronchodilator response. The SAPPHIRE cohort is a member of the Asthma Translational Genomics Collaborative (ATGC). The latter was selected for whole genome sequencing in Phase 3 of the National Heart Lung and Blood Institute's TOPMed Program. The SAPPHIRE sample selected for sequencing includes African American and/or Latino individuals with and without asthma.]]>
TOPMed Whole Genome Sequencing Methods: Freeze 8TOPMed Whole Genome Sequencing Methods: Freeze 9Both case and control patients were between the age of 12-56 years at the time of enrollment. Case patients had a documented clinical diagnosis of asthma, whereas control patients did not. Case and control patients were excluded from participation if they had a prior diagnosis of congestive heart failure or chronic obstructive pulmonary disease.]]>
The SAPPHIRE cohort was initially funded as a grant from the American Asthma Foundation (then the Sandler Program for Asthma Research) to study the pharmacogenomics of inhaled corticosteroid response. The study was subsequently expanded with additional funding from the National Institute of Allergy and Infectious Diseases (R01AI079139). Both asthma case and control patients were recruited from a large, multisite health system serving the greater Detroit metropolitan area and southeast Michigan. Therefore, both case and control patients broadly reflect the demographic and socioeconomic diversity of the region. The SAPPHIRE cohort has received additional funding from the National Heart Lung and Blood Institute to characterize the blood transcriptome of asthma case and control participants (R01HL118267). A subset of the SAPPHIRE cohort has also been selected through the Asthma Translational Genomics Collaborative to undergo whole genome sequencing as part of phase 3 of the NHLBI's TOPMed Project (X01HL134589).]]>