ABSTRACT
Genetic factors in sarcoidosis susceptibility and disease expression are pre-
sently being defined. Two complementary methods exist for identifying disease genes in sarcoidosis: association studies and genome scanning. Both
methods have been successfully applied to other familial granulomatous
diseases, namely Crohn’s disease and Blau syndrome. The success in iden-
tifying disease genes in Crohn’s disease and Blau syndrome serves to pro-
vide an insight into possible mechanisms in sarcoidosis. Human
leukocyte antigen (HLA) associations with sarcoidosis susceptibility and
phenotypes have clearly been demonstrated. Several other attractive candi-
date genes have been evaluated; but it is too early to tell if any of these genes play an important role in sarcoidosis susceptibility or progression. Two
genome scans, one in German families and the other in African American
families, have identified linked chromosome regions. Potential candidate
genes in these linked regions are now being evaluated.
