Principal Investigator: Kathryn Hirst, Ph.D.

arcoidosis 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-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 will enroll 359 African American sarcoidosis-affected sibling pairs and a percentage of their parents and unaffected siblings for a total of 1078 subjects. The study will collect phenotypic data on sibling pairs with sarcoidosis and, for each family member enrolled, to collect demographic and environmental data and a blood sample for genetic analysis. The study will scan the genome for linked chromosomal regions using affected sibling pair linkage analysis; evaluate candidate genes in those regions with evidence for linkage using transmission disequilibrium testing; and collect data on environmental exposures to test for possible interactions of susceptibility genes with exogenous risk factors. The Biostatistics Center serves as the coordinating center for the study. NIH - NHLBI Cooperative Agreement: U01-HL60263-01A1, 1999 - 2004.