SARCOIDOSIS GENETIC ANALYSIS (SAGA)
Principal Investigator: Kathryn Hirst, Ph.D.
Principal Investigator: Sarah E. Fowler, Ph.D.
Sarcoidosis is a systemic granulomatous disease of unknown etiology that likely involves some environmental agent in a genetically susceptible host. The National Heart, Lung, and Blood Institute (NHLBI) sponsored Sarcoidosis Genetic Analysis (SAGA) consortium will identify sarcoidosis susceptibility genes and to determine how these genes and environmental risk factors interact to cause sarcoidosis. The 10-site multi-center consortium will recruit a sample of sarcoidosis families for analysis. The study enrolled 338 African American sarcoidosis-affected sibling pairs and a percentage of their parents and unaffected siblings for a total of 1038 subjects. The study collected phenotypic data on sibling pairs with sarcoidosis and, for each family member enrolled, collected demographic and environmental data and a blood sample for genetic analysis. The study scanned the genome for linked chromosomal regions using affected sibling pair linkage analysis; evaluated candidate genes in those regions with evidence for linkage using transmission disequilibrium testing; and collected data on environmental exposures to test for possible interactions of susceptibility genes with exogenous risk factors. The Biostatistics Center served as the coordinating center for the study.
NIH/NHLBI Cooperative Agreement: U01-HL60263-01A1, 1999 - 2004.)