HLA-DQB1 and HLA-DPB1 genotypes in familial sarcoidosis.

Numerous reports on the familial occurrence of sarcoidosis, on regionally different prevalences and on its associations with genetic polymorphisms point to the existence of predisposing genes. We have started to establish a collection of DNA from families with two or more sarcoidosis patients for the purpose of genetic linkage and association studies. In this report we present HLA class II genotypes of affected first-degree relatives from 17 families, including eight instances of affected parent and offspring, six sib pairs, and three sib triplets. Genotyping for HLA-DQB1 revealed an over-representation of DQB1*0603 and DQB1*0604 among alleles shared by affected first degree relatives. The same was found for HLA-DPB1*0201 (Glu69 positive). However, none of the sib triplets had any of these alleles in common.