The genetics of spondyloarthropathies - 01/01/06

Doi : 10.1016/j.jbspin.2005.11.010

Maxime Breban ^a,^b,^⁎ , Corinne Miceli-Richard ^c, Elena Zinovieva ^a, Dominique Monnet ^a,^d, Roula Said-Nahal ^a,^b
^a Département d'immunologie, institut Cochin, Inserm U567/CNRS UMR8104/IFR116, hôpital Cochin, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France
^b Service de rhumatologie, hôpital Ambroise-Paré, APHP, université Paris-Saint-Quentin en Yvelines, 9, avenue Charles-de-Gaulle, 92100 Boulogne-Billancourt, France
^c Service de rhumatologie, hôpital Bicêtre, APHP, 78, rue du Général-Leclerc, 94270 Le Kremlin-Bicêtre, France
^d Service d'ophtalmologie, hôpital Cochin, APHP, université Paris-V, 27, rue du Faubourg-Saint-Jacques, 75014 Paris, France

Corresponding author. Tel.: +33 1 49 09 56 72; fax: +33 1 49 09 58 65.

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Abstract

The spondyloarthropathies constitute a group of inflammatory joint diseases linked by shared characteristics that include a strong common genetic background. Genetic factors include major histocompatibility complex (MHC) genes, among which HLA-B27 contributes 30% of the overall genetic susceptibility to spondyloarthropathies, and non-MHC genes, none of which have been identified to date. Genome screens have identified regions that may contain susceptibility genes for spondyloarthropathies. In particular, a locus on the long arm of chromosome 9 (9q31-34) was identified by two groups working independently from each other. Studies using the candidate gene approach ruled out a role for most of the tested genes, including CARD15/NOD2. However, several independent groups have reported significant associations between ankylosing spondylitis and the IL-1 gene cluster on the long arm of chromosome 2.

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Keywords : Genetics, Spondyloarthropathy, Ankylosing spondylitis