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Human Molecular Genetics, 2004, Vol. 13, No. 15 1641-1648
DOI: 10.1093/hmg/ddh179
Human Molecular Genetics, Vol. 13, No. 15 © Oxford University Press 2004; all rights reserved

Significant linkage to spondyloarthropathy on 9q31–34

Corinne Miceli-Richard1,2,*, Habib Zouali1, Roula Said-Nahal2, Suzanne Lesage1, Françoise Merlin1, Claudia de Toma1, Hélène Blanche1, Mourad Sahbatou1, Maxime Dougados2, Gilles Thomas1, Maxime Breban3, Jean-Pierre Hugot1,4 and Groupe Français d'Etude Génétique des Spondylarthropathies (GFEGS)

1Laboratoire de Génétique des Maladies Inflammatoires de l'Intestin et Fondation Jean Dausset/CEPH, Paris, France, 2Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université René Descartes Paris, France, 3Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Université Paris, Ile de France Ouest Paris, France and 4Equipe Avenir Inserm, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris, Faculté Xavier Bichat, Paris, France

Received March 19, 2004; Accepted June 2, 2004

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.

* To whom correspondence should be addressed at: Centre d'Etude du Polymorphisme Humain/Fondation Jean-Dausset27, rue Juliette Dodu, 75010 Paris, France. Tel: +33 153725020; Fax: +33 153725058; Email: corinne.miceli{at}cephb.fr


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