Link to Pubmed [PMID] – 15234954
Hum. Mol. Genet. 2004 Aug;13(15):1641-8
Spondyloarthropathy (SpA) is a frequent rheumatologic disorder with a prevalence of 0.3% in Caucasian populations from western Europe. It commonly presents as chronic axial and/or peripheral arthritis with potential disabling outcome. SpA is also variably associated with extra-articular manifestations. The pathogenesis of SpA is considered as complex, with a strong genetic component. Human leukocyte antigen B27 has been identified as a predisposing factor for SpA, but family and twin studies suggest that additional genetic risk factors exist outside the major histocompatibility complex (MHC). To map SpA susceptibility loci, 120 multiplex SpA families were included in a genome-wide scan. Linkage analyses performed on the first 65 families allowed us to identify four candidate non-MHC regions on chromosomes 5q, 9q, 13q and 17q, which were further explored in the remaining 55 multiplex families (extension study). Non-parametric multipoint linkage analyses of the whole data set yielded evidence of significant linkage to 9q31-34, in the vicinity of marker D9S1776 (NPL=4.87, LOD=5.15, P=0.00002). This result provides evidence for the presence of a non-MHC susceptibility locus for SpA mapping to 9q31-34.