Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies

Interleukin 1 alpha (IL-1 alpha) has been implicated in the pathogenesis of infectious, auto-immune and inflammatory diseases. Polymorphisms in the ge nes encoding IL-1 alpha, IL-1 beta and the IL-1 receptor antagonist (ILRN) molecules have been associated with several inflammatory diseases. As the m arker D2S160 has been characterized as a candidate locus for Ankylosing Spo ndylitis (AS) after a genome-wide scan, and since this locus is located app roximately 0.3 cM telomeric to the IL-1 gene cluster, we hypothesized that these cytokines might be good candidates for Spondylarthropathies (SpA), Th erefore we tested this hypothesis using the transmission disequilibrium tes t (TDT) in 37 families representing 217 subjects from three intragenic IL-1 gene cluster polymorphisms, the IL1B TaqI, the ILRN 2nd intron, and the IL 1A NcoI, taking HLA B27 status into account or not. In conclusion, by means of intra-familial TDT analysis we found no linkage or intra-familial assoc iation between SpA and the three IL-1 gene-cluster polymorphisms in SpA mul tiplex family material. (C) 2001 Academic Press.