Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6.

ABSTRACT

Familial Mediterranean Fever (FMF) is an autosomal recessive disease manifested by recurrent short episodes of fever associated with polyserositis. Although the biochemical defect is unknown, there are several immunologic abnormalities which have been described in this disease. To examine critically whether there is linkage between FMF and the immunogenetic region (major histocompatibility complex-MHC) on chromosome 6, including the HLA, BF, and GLO1 loci, blood samples from members of 13 nuclear Armenian families were tested for these genetic markers. These 13 families included 28 affected and 42 unaffected family members. Linkage could be excluded at 7.5% recombination with the HLA ABC and D loci. Linkage could be excluded at 2.5% recombination for GLO1. Linkage could not be excluded with BF individually, but can be rejected based on the haplotype data. No association was found with either BF, GLO1, and HLA DQ alleles. HLA DR4 was found more often in affected cases than in controls; however, after adjusting for the number of antigens tested this was not significant. Our results would appear to exclude the immunogenetic region on chromosome 6 from linkage with FMF in the Armenian population.