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Cores
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Genetics Core
Director: Esteban Gonzáez Burchard, M.D., M.P.H.,
Associate Professor of Medicine and Biopharmaceutical Sciences
Objective
The Sandler Asthma Genetics Core Facility was established to foster genetic research in asthma. We offer Sandler sponsored investigators a “full service of SNP discovery, genetic testing and analyses.” We analyze promising candidate genes identified by Sandler investigators using biologic material (DNA and plasma) from two large well-phenotyped cohorts of ethnically diverse subjects with asthma. Although we do not send out DNA or other biologic material, we have made the cohorts described below widely available to Sandler sponsored investigators. Projects will be prioritized based on a first come first serve basis and available resources.
SNP Discovery:
Sandler sponsored investigators may request for SNP (sequence variant) discovery within asthma candidate genes. The Genetics Core will perform sequencing of coding regions using our SNP discovery panel which consists of 100 individuals (200 chromosomes) from African American, Latino and Caucasian subjects with asthma. Tagged SNPs and linkage disequilibrium patterns will be determined. Representative SNPs will then be genotyped in our existing cohorts of subjects with asthma.
Population based cohorts of well phenotyped subjects with asthma: The Sandler Asthma Genetics Core makes use of two large asthma cohorts: the Genetics of Asthma in Latino Americans (GALA) Study and the Study of African Americans, Asthma, Genes and Environments (SAGE). Latinos and African Americans were selected because in the U.S. these populations have the highest asthma prevalence, morbidity and mortality rates. Paradoxically, some Latino ethnic groups (Mexicans) have the lowest asthma rates in the U.S.
The GALA Study consists of 700 well-phenotyped Mexican and Puerto Rican families with asthma. Each family consists of an asthmatic proband and both biologic parents. The SAGE Study is a cross-sectional case-control study consisting of 470 well-phenotyped African American asthma cases and controls. Each asthmatic proband has undergone extensive phenotyping including drug responsiveness.
New Cohorts: We are initiating new recruitment efforts to build replicate cohorts. Recruitment will focus on Latino ethnic groups and African Americans, populations known to have high asthma prevalence, morbidity and mortality. All subjects (cases and controls) will complete a comprehensive environmental, demographic and asthma questionnaire. All asthmatics will complete spirometry. In addition, phenotypic assessment in these cohorts will include environmental measures, methacholine challenge and skin testing. Recruitment goals are for 4000 Latino subjects (2000 cases and 2000 controls) as part of the Genes-environments & Admixture in Latino Asthmatics (GALA 2) Study, and 1000 African Americans (500 cases and 500 controls) as part of SAGE 2.
The establishment of the new cohorts will provide important insight into the understanding of genetic and environmental interactions and the impact on racial/ethnic differences in asthma-related and pharmacogenetic traits among Latinos and African Americans. These cohorts will be available to Sandler sponsored investigators.
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